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Gene: Psen2 MGI:109284

Gene Summary

Name:

presenilin 2

Synonyms:

Ad4h, PS2, ALG-3, PS-2

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

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	Allele	Zyg	Life Stage	P Value
abnormal brain morphology	Psen2^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
increased mean corpuscular hemoglobin	Psen2^{em1(IMPC)Ccpcz}	HOM	Early adult	1.10×10^-05
hydrocephaly	Psen2^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal thymus morphology	Psen2^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
preweaning lethality, incomplete penetrance	Psen2^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal heart morphology	Psen2^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
enlarged thymus	Psen2^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal digit morphology	Psen2^{em1(IMPC)Ccpcz}	HOM	Early adult	7.95×10^-05
abnormal seminal vesicle morphology	Psen2^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00

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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

18 Images

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X-ray

XRay Images Forepaw

16 Images

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X-ray

XRay Images Hind Leg and Hip

32 Images

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X-ray

XRay Images Whole Body Dorso Ventral

34 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

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X-ray

XRay Images Skull Lateral Orientation

16 Images

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Human diseases caused by Psen2 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.

Human diseases associated with Psen2 (4 diseases)
Human diseases predicted to be associated with Psen2 (738 diseases)

The table below shows human diseases associated to Psen2 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Familial Isolated Dilated Cardiomyopathy	Dilated cardiomyopathy, Abnormality of neutrophils, Palmoplantar keratoderma	ORPHA:154
Cardiomyopathy, Dilated, 1V	Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul...	OMIM:613697
Alzheimer Disease 4		OMIM:606889
Early-Onset Autosomal Dominant Alzheimer Disease		ORPHA:1020

The table below shows human diseases predicted to be associated to Psen2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 3	Reduced forced expiratory volume in one second, Reduced forced vital capacity, Pulmonary fibrosis...	OMIM:616373
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 4	Reduced forced expiratory volume in one second, Reduced forced vital capacity, Honeycomb lung, Pu...	OMIM:616371
Interstitial Lung Disease 2	Dyspnea, Alveolar cell carcinoma, Elevated bronchoalveolar lavage fluid neutrophil proportion, Pu...	OMIM:178500
Idiopathic Pulmonary Fibrosis	Crackles, Bronchiectasis, Abnormal pulmonary interstitial morphology, Honeycomb lung, Pulmonary f...	ORPHA:2032
Pulmonary Hemosiderosis	Recurrent intrapulmonary hemorrhage, Pulmonary fibrosis, Respiratory insufficiency	OMIM:178550
Cystic Hamartoma Of Lung And Kidney	Hypertension, Recurrent respiratory infections, Respiratory insufficiency, Pulmonary fibrosis	ORPHA:2111
Chronic Beryllium Disease	Lymphocytic interstitial pneumonia, Dyspnea, Hypersensitivity pneumonitis, Abnormality on pulmona...	ORPHA:133
Hypersensitivity Pneumonitis, Familial	Hypersensitivity pneumonitis	OMIM:145300
Asbestos Intoxication	Reduced forced vital capacity, Nonproductive cough, Decreased DLCO, Oxygen desaturation on exerti...	ORPHA:2302
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ...	OMIM:610921
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Ciliary Dyskinesia, Primary, 29	Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili...	OMIM:615872
Interstitial Lung Disease 1	Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Dyspnea, Elevated b...	OMIM:619611
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect...	OMIM:610913
Emphysema, Hereditary Pulmonary	Emphysema, Chronic pulmonary obstruction, Chronic bronchitis	OMIM:130700
Pulmonary Nodular Lymphoid Hyperplasia	Dyspnea, Nodular pattern on pulmonary HRCT, Cough	ORPHA:60026
Sarcoidosis, Susceptibility To, 2	Dyspnea, Pneumothorax, Bronchiectasis, Abnormal pulmonary interstitial morphology, Hypoxemia, Res...	OMIM:612387
Mucus Inspissation Of Respiratory Tract	Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr...	OMIM:253240
Ciliary Dyskinesia, Primary, 21	Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Decreased nasal nitric oxide, Br...	OMIM:615294
Pulmonary Venoocclusive Disease 1, Autosomal Dominant	Pulmonary venous occlusion, Abnormally loud pulmonic component of the second heart sound, Interlo...	OMIM:265450
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Dyspnea, Tachypnea, Abnormal pulmonary interstitial morphology, Restrictive ventilatory defect, H...	OMIM:616414
Bronchiolitis Obliterans With Obstructive Pulmonary Disease	Pneumonia, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Dyspnea...	ORPHA:1303
Acute Interstitial Pneumonia	Peribronchovascular interstitial thickening, Crackles, Nodular pattern on pulmonary HRCT, Nonprod...	ORPHA:79126
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Crackles, Portal hypertension, Abnormal pleura morphology, Dyspnea, Restrictive ventilatory defec...	ORPHA:210136
Thrombophilia Due To Thrombomodulin Defect	Pulmonary embolism	OMIM:614486
Ciliary Dyskinesia, Primary, 33	Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Recurrent lower respir...	OMIM:616726
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Respiratory tract infection, Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Wheezin...	ORPHA:79127
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Syndactyly, Postaxial hand polydactyly, Hydrocephalus, Ventriculomegaly	OMIM:615938
Hermansky-Pudlak Syndrome 4	Abnormal bleeding, Epistaxis, Restrictive ventilatory defect, Menorrhagia, Pulmonary fibrosis, Br...	OMIM:614073
Thrombophilia, X-Linked, Due To Factor Viii Defect	Pulmonary embolism	OMIM:301071
Antithrombin Iii Deficiency	Arterial occlusion, Pulmonary embolism	OMIM:613118
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 5	Pulmonary fibrosis	OMIM:618674
Limited Cutaneous Systemic Sclerosis	Pulmonary arterial hypertension, Telangiectasia of the skin, Pulmonary fibrosis, Mucosal telangie...	ORPHA:220402
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1	Crackles, Dyspnea, Reticular pattern on pulmonary HRCT, Pulmonary fibrosis, Cough, Decreased DLCO...	OMIM:614742
Beemer Lethal Malformation Syndrome	Ambiguous genitalia, Hydrocephalus, Thrombocytopenia	OMIM:209970
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph...	ORPHA:217563
Craniofacial Conodysplasia	Hydrocephalus, Cone-shaped epiphyses of the phalanges of the hand	ORPHA:85168
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ...	OMIM:610978
Idiopathic Pulmonary Hemosiderosis	Crackles, Diffuse alveolar hemorrhage, Nodular pattern on pulmonary HRCT, Dyspnea, Heart murmur, ...	ORPHA:99931
Thrombophilia Due To Thrombin Defect	Pulmonary embolism	OMIM:188050
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Type II pneumocyte hypertrophy, Desquamative interstitial pneumonitis, Tach...	OMIM:263000
Autosomal Recessive Spastic Paraplegia Type 70	Abnormal pulmonary interstitial morphology	ORPHA:401835
Bronchopulmonary Dysplasia	Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Right ve...	ORPHA:70589
Diffuse Alveolar Hemorrhage	Respiratory failure requiring assisted ventilation, Dyspnea, Increased DLCO, Hypoxemia, Restricti...	ORPHA:90060
Fanconi Renotubular Syndrome 5	Hypertension, Pulmonary fibrosis, Decreased DLCO, Emphysema, Lung adenocarcinoma	OMIM:618913
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hydrocephalus, Rhizomelia, Thrombocytopenia	OMIM:166990
Riddle Syndrome	Pulmonary fibrosis	OMIM:611943
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas...	OMIM:619466
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Atelectasis, Right bundle branch block, Pulmonary fibrosis, Bronchiolitis, Exertional dyspnea	ORPHA:254361
Heparin-Induced Thrombocytopenia	Abnormal onset of bleeding, Cerebral ischemia, Myocardial infarction, Pulmonary embolism	ORPHA:3325
Thrombophilia Due To Protein C Deficiency, Autosomal Dominant	Pulmonary embolism	OMIM:176860
Respiratory Distress Syndrome In Premature Infants	Respiratory distress, Neonatal respiratory distress, Dyspnea, Atelectasis, Tachypnea, Pulmonary e...	OMIM:267450
Congenital Lobar Emphysema	Respiratory distress, Emphysema	ORPHA:1928
Hydrocephalus, Congenital, 1	Hydrocephalus, Ventriculomegaly	OMIM:236600
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Surfactant Metabolism Dysfunction, Pulmonary, 5	Dyspnea, Intraalveolar phospholipid accumulation, Respiratory insufficiency, Interlobular septal ...	OMIM:614370
Lymphoid Interstitial Pneumonia	Multiple pulmonary cysts, Crackles, Raynaud phenomenon, Dyspnea, Wheezing, Respiratory tract infe...	ORPHA:79128
Hemoglobin E-Beta-Thalassemia Syndrome	Abnormal hemoglobin, Anemia	ORPHA:231249
Retinal Dystrophy With Or Without Extraocular Anomalies	Pulmonary fibrosis	OMIM:617175
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Restrictive ventilatory defect, Pulmonary fibrosis	OMIM:615704
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Postaxial hand polydactyly, Hydrocephalus, Ventriculomegaly	OMIM:615937
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Abnormal cardiac septum morphology, Abnormal hemoglobin, Anemia	ORPHA:3319
Antisynthetase Syndrome	Aortic regurgitation, Recurrent respiratory infections, Telangiectasia of the skin, Myocarditis, ...	ORPHA:81
Aspergillosis	Sinusitis, Pneumonia, Dyspnea, Asthma, Chronic pulmonary obstruction, Abnormality on pulmonary fu...	ORPHA:1163
Pulmonary Venoocclusive Disease 2, Autosomal Recessive	Pulmonary venous occlusion, Dyspnea, Pulmonary capillary hemangiomatosis, Cough, Decreased DLCO, ...	OMIM:234810
Surfactant Metabolism Dysfunction, Pulmonary, 1	Neonatal respiratory distress, Apnea, Dyspnea, Desquamative interstitial pneumonitis, Tachypnea, ...	OMIM:265120
Scedosporiosis	Bronchial breath sound, Sinusitis, Pericarditis, Pneumonia, Bronchitis, Abnormal respiratory syst...	ORPHA:449280
Polymyositis	Gastrointestinal hemorrhage, Pericarditis, Abnormal atrioventricular conduction, Myocardial infar...	ORPHA:732
Hemoglobin H Disease	Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
1Q21.1 Microduplication Syndrome	Hypospadias, Cryptorchidism, Hydrocephalus, Hip dislocation, Hip dysplasia, Talipes equinovarus, ...	ORPHA:250994
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu...	OMIM:603902
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Atelectasis, Chronic sinusitis, Recurrent bronchitis	OMIM:300455
Niemann-Pick Disease, Type B	Decreased DLCO, Dyspnea, Abnormal pulmonary interstitial morphology, Recurrent respiratory infect...	OMIM:607616
Chromosome 8Q12.1-Q21.2 Deletion Syndrome	Hydrocephalus	OMIM:600257
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Megalencephaly, Autosomal Dominant	Hydrocephalus	OMIM:155350
Familial Nasal Acilia	Respiratory distress, Dyspnea, Atelectasis, Recurrent upper respiratory tract infections, Bronchi...	ORPHA:922
Braddock Syndrome	Pulmonary arterial hypertension, Neonatal respiratory distress, Pulmonary fibrosis	ORPHA:52047
Alpha-2-Plasmin Inhibitor Deficiency	Bruising susceptibility, Joint hemorrhage, Persistent bleeding after trauma, Hemothorax	OMIM:262850
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Pulmonary Edema Of Mountaineers, Susceptibility To	Elevated pulmonary artery pressure, Pulmonary edema	OMIM:178400
Idiopathic Bronchiectasis	Crackles, Productive cough, Myocardial infarction, Dyspnea, Wheezing, Respiratory tract infection...	ORPHA:60033
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Greig Cephalopolysyndactyly Syndrome	Broad hallux phalanx, Hypospadias, Broad hallux, 1-3 toe syndactyly, Cryptorchidism, Preaxial han...	OMIM:175700
Factor V Excess With Spontaneous Thrombosis	Pulmonary embolism	OMIM:134400
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Recurrent Respiratory Papillomatosis	Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction...	ORPHA:60032
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Splenomegaly, Anemia	ORPHA:46532
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Emphysema, Pulmonary fibrosis, Portal hypertension	OMIM:620365
Acute Lung Injury	Respiratory distress, Shock, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachypnea, Abnormal...	ORPHA:178320
Ciliary Dyskinesia, Primary, 23	Neonatal respiratory distress, Chronic bronchitis, Productive cough, Recurrent pneumonia, Bronchi...	OMIM:615451
Hermansky-Pudlak Syndrome 1	Prolonged bleeding time, Epistaxis, Hematochezia, Restrictive ventilatory defect, Cardiomyopathy,...	OMIM:203300
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	ORPHA:2807
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Restrictive ventilatory defect, Pulmonary fibrosis	OMIM:619767
Long Qt Syndrome 13	Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri...	OMIM:613485
Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency	Pulmonary embolism	ORPHA:82
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2	Pulmonary fibrosis	OMIM:614743
Allergic Bronchopulmonary Aspergillosis	Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmonary arterial hypertension, Emphysema	ORPHA:1164
Immunodeficiency 60 And Autoimmunity	Recurrent sinopulmonary infections, Bronchiectasis, Pulmonary fibrosis	OMIM:618394
Infant Acute Respiratory Distress Syndrome	Tachycardia, Pneumonia, Cardiac arrest, Respiratory tract infection, Atelectasis, Nasal flaring, ...	ORPHA:70587
Congenital Myopathy 21 With Early Respiratory Failure	Dyspnea, Lipoid pneumonia, Respiratory failure, Nocturnal hypoventilation, Hypertrophic cardiomyo...	OMIM:620326
Pulmonary Alveolar Microlithiasis	Bronchitis, Right ventricular failure, Increased pulmonary vascular resistance, Nonproductive cou...	ORPHA:60025
Pineocytoma	Hydrocephalus, Increased CSF protein concentration	ORPHA:251912
Mixed Connective Tissue Disease	Gastrointestinal hemorrhage, Prolonged bleeding time, Pericarditis, Dyspnea, Myocarditis, Abnorma...	ORPHA:809
Diffuse Cutaneous Systemic Sclerosis	Telangiectasia of the skin, Dyspnea, Congestive heart failure, Pulmonary fibrosis, Pulmonary arte...	ORPHA:220393
Congenital Alpha2-Antiplasmin Deficiency	Abnormal bleeding, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Gingival bleeding,...	ORPHA:79
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Recurrent respiratory infections, Chronic pulmonary obstruction, Recurrent pneumonia, Bronchiecta...	OMIM:618986
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Hereditary Pulmonary Alveolar Proteinosis	Respiratory distress, Respiratory failure requiring assisted ventilation, Tachycardia, Crazy pavi...	ORPHA:264675
Ciliary Dyskinesia, Primary, 27	Recurrent respiratory infections, Neonatal respiratory distress, Decreased nasal nitric oxide, Br...	OMIM:615504
Greig Cephalopolysyndactyly Syndrome	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Preaxial hand polydactyly, Postaxial han...	ORPHA:380
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant	Purpura, Pulmonary embolism	OMIM:612336
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive	Vitreous hemorrhage, Purpura, Pulmonary embolism	OMIM:612304
Meconium Aspiration Syndrome	Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Atelectasis, Hypoxemia, Abnormal...	ORPHA:70588
Idiopathic Chronic Eosinophilic Pneumonia	Crackles, Dyspnea, Nonproductive cough, Wheezing, Asthma, Atelectasis, Hypersensitivity pneumonit...	ORPHA:2902
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Cholelithi...	ORPHA:846
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome	Hydrocephalus	ORPHA:2703
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Hydrocephalus, Dandy-Walker malformation	ORPHA:1538
Typhoid	Gastrointestinal hemorrhage, Epistaxis, Cardiac arrest, Abnormal pulmonary interstitial morpholog...	ORPHA:99745
Felty Syndrome	Recurrent respiratory infections, Pericarditis, Sinusitis, Recurrent pharyngitis, Recurrent pneum...	ORPHA:47612
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Pulmonary fibrosis	OMIM:611926
Tracheobronchopathia Osteochondroplastica	Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,...	ORPHA:3348
Hb Bart'S Hydrops Fetalis	Pericarditis, Abnormal hemoglobin, Splenomegaly, Hydrocephalus, Anemia	ORPHA:163596
Biemond Syndrome Type 2	Hypogonadotropic hypogonadism, Hypospadias, Hydrocephalus, Preaxial polydactyly, Hypogonadism	ORPHA:141333
Interstitial Lung And Liver Disease	Dyspnea, Intraalveolar phospholipid accumulation, Respiratory insufficiency, Abnormal pulmonary i...	OMIM:615486
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Pulmonary fibrosis, Myocardial infarction	ORPHA:457240
Pontocerebellar Hypoplasia, Type 15	Thrombocytopenia, Hydrocephalus, Chronic neutropenia, Anemia	OMIM:619302
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Normal pressure hydrocephalus, Ventriculomegaly	OMIM:611808
Hydrocephalus, Autosomal Dominant	Hydrocephalus, Dandy-Walker malformation	OMIM:123155
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Hydrocephalus, Ventriculomegaly	OMIM:618709
Chitayat Syndrome	Respiratory distress, Recurrent respiratory infections, Abnormal pulmonary interstitial morpholog...	OMIM:617180
Masa Syndrome	Hydrocephalus, Talipes equinovarus, Ventriculomegaly, Adducted thumb	OMIM:303350
Biemond Syndrome Ii	Preaxial hand polydactyly, Hydrocephalus	OMIM:210350
Hereditary Mucoepithelial Dysplasia	Recurrent respiratory infections, Pulmonary fibrosis	ORPHA:1839
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Tricuspid regurgitation, Crackles, Dyspnea, Asthma, Wheezing, Atelectasis, Bronchiectasis, Recurr...	OMIM:620233
Riddle Syndrome	Conjunctival telangiectasia, Pneumonia, Bronchitis, Neonatal asphyxia, Intraventricular hemorrhag...	ORPHA:420741
Immunodeficiency 13	Recurrent upper respiratory tract infections, Recurrent pneumonia, Bronchiolitis obliterans organ...	OMIM:615518
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Enlarged epiphyses, Metaphyseal dysplasia, Proximal placement of thumb, Hypoplastic ilia, Hydroce...	OMIM:613330
Pulmonary Hypertension, Primary, 3	Increased pulmonary vascular resistance, Dyspnea, Elevated pulmonary artery pressure, Pulmonary a...	OMIM:615343
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad...	ORPHA:2378
Atypical Teratoid Rhabdoid Tumor	Hydrocephalus	ORPHA:99966
Hydrocephalus-Obesity-Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Hydrocephalus, Mitral valve prolapse, Azoospermia, Cubitus valgus...	ORPHA:2183
Juvenile Dermatomyositis	Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Angina pectoris, Telangiectasia o...	ORPHA:93672
Congenital Toxoplasmosis	Ventriculomegaly, Cardiomegaly, Hydrocephalus, Lymphadenopathy, Anemia, Thrombocytopenia	ORPHA:858
Chudley-Mccullough Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:604213
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Recurrent upper respiratory tract infections, Abnormal pulmonary interstitial morphology, Recurre...	OMIM:613101
Wild Type Attr Amyloidosis	Abnormal EKG, Myocardial infarction, Congestive heart failure, Abnormal pulmonary interstitial mo...	ORPHA:330001
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Syndactyly, Ventricular septal defect, Hydrocephalus, Polydactyly, Leukemia, Ventriculomegaly	OMIM:602501
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Hypo...	OMIM:613673
Sting-Associated Vasculopathy, Infantile-Onset	Recurrent respiratory infections, Raynaud phenomenon, Tachypnea, Telangiectasia, Pulmonary fibrosis	OMIM:615934
Pulmonary Capillary Hemangiomatosis	Pulmonary edema, Right ventricular failure, Diffuse alveolar hemorrhage, Dyspnea, Hemothorax, Pul...	ORPHA:199241
Gaucher Disease, Type I	Epistaxis, Dyspnea, Abnormal pulmonary interstitial morphology, Hypertension, Mitral regurgitatio...	OMIM:230800
Bronchial Neuroendocrine Tumor	Tricuspid regurgitation, Pneumonia, Right ventricular failure, Dyspnea, Nonproductive cough, Asth...	ORPHA:97287
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules	Recurrent sinopulmonary infections, Ciliary dyskinesia	OMIM:215520
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Short thumb, Mitral valve ...	OMIM:612561
Kleeblattschaedel	Hydrocephalus, Elbow ankylosis	OMIM:148800
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macroorchidism, Hydrocephalus, Cardiomegaly	OMIM:300886
Aicardi-Goutieres Syndrome 4	Pancytopenia, Ventriculomegaly, Splenomegaly, Hydrocephalus, Hepatosplenomegaly, CSF lymphocytic ...	OMIM:610333
Pulmonary Hypertension, Primary, 1	Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc...	OMIM:178600
Vacterl Association With Hydrocephalus	Absent thumb, Aqueductal stenosis, Radial club hand, Hydrocephalus, Abnormal heart morphology, St...	OMIM:276950
Brain-Lung-Thyroid Syndrome	Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Asthma, Re...	ORPHA:209905
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Postaxial hand polydactyly, Abnormal cardiac septum morphology, Ventricular septal defect, Hydroc...	ORPHA:83473
Total Anomalous Pulmonary Venous Return 1	Pulmonary arterial hypertension, Total anomalous pulmonary venous return, Recurrent respiratory i...	OMIM:106700
Congenital Disorder Of Glycosylation, Type Iid	Hydrocephalus, Dandy-Walker malformation	OMIM:607091
Pulmonary Arteriovenous Malformation	Abnormal bleeding, Transient ischemic attack, Epistaxis, Myocardial infarction, Dyspnea, Heart mu...	ORPHA:2038
Cyanosis, Transient Neonatal	Reticulocytosis, Methemoglobinemia, Anemia	OMIM:613977
Developmental And Epileptic Encephalopathy 36	Hydrocephalus, Small hand	OMIM:300884
Ritscher-Schinzel Syndrome 1	Syndactyly, Hypospadias, Decreased response to growth hormone stimulation test, Ventricular septa...	OMIM:220210
Rajab Interstitial Lung Disease With Brain Calcifications 2	Restrictive ventilatory defect, Abnormal pulmonary interstitial morphology, Cough	OMIM:619013
Hydrolethalus Syndrome 2	Postaxial hand polydactyly, Hydrocephalus, Anencephaly, Postaxial foot polydactyly, Preaxial foot...	OMIM:614120
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Granulomatosis With Polyangiitis	Gastrointestinal hemorrhage, Recurrent respiratory infections, Pericarditis, Sinusitis, Recurrent...	ORPHA:900
Beta-Thalassemia	Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenome...	ORPHA:848
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Recurrent respiratory infections, Portal hypertension, Pulmonary fibrosis, Cough, Recurrent aspir...	ORPHA:79124
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent	Hydrocephalus	OMIM:266100
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive	Purpura, Cerebral hemorrhage, Pulmonary embolism	OMIM:614514
Immunodeficiency 85 And Autoimmunity	Recurrent respiratory infections, Pulmonary fibrosis	OMIM:619510
Dyskeratosis Congenita, Autosomal Dominant 1	Dyspnea, Hepatic necrosis, Interstitial pneumonitis, Budd-Chiari syndrome, Pulmonary fibrosis	OMIM:127550
Systemic Sclerosis	Pericarditis, Nail bed telangiectasia, Right ventricular failure, Raynaud phenomenon, Dyspnea, My...	ORPHA:90291
Bare Lymphocyte Syndrome, Type I	Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Recurrent bronchitis	OMIM:604571
Temple Syndrome	Decreased response to growth hormone stimulation test, Precocious puberty, Cryptorchidism, Hydroc...	ORPHA:254516
Czeizel-Losonci Syndrome	Hitchhiker thumb, Dextrocardia, Single transverse palmar crease, Spina bifida, Myelomeningocele, ...	ORPHA:2437
Pulmonary Hypertension, Primary, 4	Pulmonary arterial hypertension with lack of acute response to NO challenge, Atrial flutter, Firs...	OMIM:615344
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Hydrocephalus	ORPHA:1008
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Pleural effusion, Recurrent pneumonia, Pulmonary fibrosis	OMIM:618935
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Ulnar deviation of the wrist, Cryptorchidism, Hydrocephalus, Clinodactyly, Hypoplastic female ext...	OMIM:618577
Pallister-Hall-Like Syndrome	Occipital encephalocele, Toe syndactyly, Micromelia, Postaxial hand polydactyly, Hydrocephalus, H...	OMIM:241800
Sarcoidosis, Susceptibility To, 1	Dyspnea, Bronchiectasis, Abnormal pulmonary interstitial morphology, Hypoxemia, Restrictive venti...	OMIM:181000
Meckel Syndrome, Type 3	Occipital encephalocele, Postaxial hand polydactyly, Hydrocephalus, Postaxial foot polydactyly, P...	OMIM:607361
Diencephalic Syndrome	Large hands, Long penis, Hydrocephalus	ORPHA:1672
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Respiratory distress, Pulmonary fibrosis	OMIM:612852
Niemann-Pick Disease, Type C2	Neonatal respiratory distress, Respiratory failure, Pulmonary fibrosis, Respiratory insufficiency	OMIM:607625
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Ventricular septal defect, Splenomegaly, Postaxial hand polydactyly, Hydrocephalus, Cone-shaped e...	OMIM:615630
Meckel Syndrome, Type 4	Encephalocele, Bowing of the long bones, Ventricular septal defect, Postaxial hand polydactyly, H...	OMIM:611134
Holoprosencephaly 5	Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri...	OMIM:609637
Distal 7Q11.23 Microduplication Syndrome	Cryptorchidism, Hydrocephalus, Frontal encephalocele	ORPHA:261102
Sickle Cell Anemia	Pigment gallstones, Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the sple...	ORPHA:232
Dandy-Walker Syndrome	Dilated fourth ventricle, Hydrocephalus	OMIM:220200
Acalvaria	Holoprosencephaly, Postaxial hand polydactyly, Hydrocephalus, Spina bifida	ORPHA:945
Immunodeficiency 91 And Hyperinflammation	Recurrent pneumonia, Abnormal pulmonary interstitial morphology, Pleural effusion, Recurrent lowe...	OMIM:619644
Primary Ciliary Dyskinesia	Recurrent sinopulmonary infections, Neonatal respiratory distress, Peribronchovascular interstiti...	ORPHA:244
Congenital Hydrocephalus	Hydrocephalus, Ventriculomegaly, Colpocephaly, Abnormal heart morphology	ORPHA:2185
Infantile Sialic Acid Storage Disease	Cardiomegaly, Splenomegaly, Hydrocephalus, Vacuolated lymphocytes, Metaphyseal irregularity	OMIM:269920
Omphalocele-Cleft Palate Syndrome, Lethal	Hydrocephalus, Bicornuate uterus	OMIM:258320
Bone Marrow Failure Syndrome 5	Pulmonary fibrosis	OMIM:618165
Pentalogy Of Cantrell	Encephalocele, Absent gallbladder, Hypospadias, Abnormal pericardium morphology, Ventricular sept...	ORPHA:1335
Central Precocious Puberty In Male	Pituitary microadenoma, Hydrocephalus, Abnormality of the testis size, Precocious puberty in males	ORPHA:649929
Familial Isolated Restrictive Cardiomyopathy	Orthopnea, Recurrent respiratory infections, Tricuspid regurgitation, Atrial fibrillation, Suprav...	ORPHA:75249
Dermatomyositis	Recurrent respiratory infections, Pericarditis, Telangiectasia of the skin, Myocardial infarction...	ORPHA:221
Atrial Septal Defect, Sinus Venosus Type	Automatic atrial tachycardia, First degree atrioventricular block, Supraventricular tachycardia, ...	ORPHA:99105
Birt-Hogg-Dubé Syndrome	Emphysema, Pneumothorax, Pulmonary sequestration	ORPHA:122
Albers-Schönberg Osteopetrosis	Abnormal leukocyte morphology, Hydrocephalus, Genu valgum, Abnormal epiphysis morphology, Abnorma...	ORPHA:53
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Cryptorchidism, Hydrocephalus, Abnormality of the elbow, Pulmonic stenosis, Hypertrophic cardiomy...	ORPHA:2701
Immune-Mediated Necrotizing Myopathy	Raynaud phenomenon, Congestive heart failure, Myocarditis, Abnormal pulmonary interstitial morpho...	ORPHA:206569
Hermansky-Pudlak Syndrome	Abnormal bleeding, Gastrointestinal hemorrhage, Epistaxis, Dyspnea, Cardiomyopathy, Pulmonary fib...	ORPHA:79430
46,Xx Gonadal Dysgenesis	Pulmonary fibrosis	ORPHA:243
Cutis Laxa, Neonatal, With Marfanoid Phenotype	Emphysema	OMIM:614100
Methemoglobinemia And Ambiguous Genitalia	Bifid scrotum, Scrotal hypospadias, Hypospadias, Elevated circulating luteinizing hormone level, ...	OMIM:250790
Edinburgh Malformation Syndrome	Hydrocephalus	OMIM:129850
Erdheim-Chester Disease	Dyspnea, Congestive heart failure, Abnormal pulmonary interstitial morphology, Pulmonary fibrosis...	ORPHA:35687
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Recurrent respiratory infections, Atelectasis, Tachypnea, Respiratory insufficiency, Hepatocellul...	OMIM:618278
Dyskeratosis Congenita, Autosomal Dominant 3	Decreased DLCO, Pulmonary fibrosis	OMIM:613990
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Hydrocephalus, Elbow flexion contracture	OMIM:619470
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Pulmonary embolism, Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy, Arrhythmia	ORPHA:1345
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Hallux valgus, Sandal gap, Single transverse palmar crease, Supernumerary nipple, Rocker bottom f...	OMIM:619951
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Bowing of the long bones, Toe syndactyly, Hypospadias, Cryptorchidism, Hydrocephalus, Radioulnar ...	ORPHA:171839
Hydrocephalus, Congenital, 3, With Brain Anomalies	Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation	OMIM:617967
Idiopathic Hypereosinophilic Syndrome	Respiratory distress, Transient ischemic attack, Supraventricular arrhythmia, Pulmonary embolism,...	ORPHA:3260
Alpha-1-Antitrypsin Deficiency	Emphysema	ORPHA:60
Al Amyloidosis	Gastrointestinal hemorrhage, Abnormal EKG, Postural hypotension with compensatory tachycardia, Dy...	ORPHA:85443
Hydrocephalus, Congenital, X-Linked	Aqueductal stenosis, Thumb contracture, Hydrocephalus, Adducted thumb	OMIM:307000
Reactive Arthritis	Aortic regurgitation, Pericarditis, Abnormal pleura morphology, Respiratory insufficiency, Pulmon...	ORPHA:29207
Metatropic Dysplasia	Camptodactyly of finger, Micromelia, Hydrocephalus, Halberd-shaped pelvis, Clinodactyly of the 5t...	ORPHA:2635
Mirage Syndrome	Hypergonadotropic hypogonadism, Hypospadias, Rocker bottom foot, Cryptorchidism, Thrombocytopenia...	OMIM:617053
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Ventricular septal defect, Mic...	ORPHA:1908
Endocrine-Cerebroosteodysplasia	Small scrotum, Single transverse palmar crease, Micromelia, Preaxial polydactyly, Tibial bowing, ...	OMIM:612651
6P22 Microdeletion Syndrome	Finger syndactyly, Clinodactyly, Hydrocephalus	ORPHA:251046
Ciliary Dyskinesia, Primary, 20	Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur...	OMIM:615067
Aase-Smith Syndrome I	Ventricular septal defect, Hydrocephalus, Talipes equinovarus, Slender finger, Dandy-Walker malfo...	OMIM:147800
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Hydrocephalus	OMIM:236660
Gracile Bone Dysplasia	Asplenia, Hydrocephalus, Flared metaphysis, Hypoplastic spleen, Slender long bone, Micropenis, Br...	OMIM:602361
Epidermodysplasia Verruciformis, Susceptibility To, 4	Emphysema	OMIM:618307
3C Syndrome	Finger syndactyly, Hypoplasia of penis, Ventriculomegaly, Hypospadias, Ventricular septal defect,...	ORPHA:7
Genitopalatocardiac Syndrome	Hypospadias, Cryptorchidism, Male pseudohermaphroditism, Postaxial hand polydactyly, Hydrocephalu...	ORPHA:2075
Bronchogenic Cyst	Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Dyspnea, Atelectasis, Cough, Bronchogenic ...	ORPHA:2357
Radial Aplasia, X-Linked	Absent radius, Hydrocephalus, Penile hypospadias	OMIM:312190
Autoimmune Pulmonary Alveolar Proteinosis	Crazy paving pattern, Crackles, Dyspnea, Intraalveolar phospholipid accumulation, Hypoxemia, Rest...	ORPHA:747
Fanconi Anemia, Complementation Group R	Radial dysplasia, Absent thumb, Hydrocephalus, Bone marrow hypocellularity, Anemia	OMIM:617244
Thanatophoric Dysplasia	Ventriculomegaly, Micromelia, Abnormal sacroiliac joint morphology, Hydrocephalus, Hip dysplasia,...	ORPHA:2655
Neonatal Lupus Erythematosus	Hemolytic anemia, Pancytopenia, Aplastic anemia, Splenomegaly, Hydrocephalus, Dilated cardiomyopa...	ORPHA:398124
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Hydrocephalus, Ventriculomegaly	OMIM:614830
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Unilateral cry...	OMIM:300946
Thanatophoric Dysplasia Type 2	Encephalocele, Micromelia, Hydrocephalus, Holoprosencephaly, Atrial septal defect, Abnormal metap...	ORPHA:93274
Alkuraya-Kucinskas Syndrome	Ventriculomegaly, Small scrotum, Overlapping toe, Pericardial effusion, Clinodactyly, Hydrocephal...	OMIM:617822
Temple Syndrome	Precocious puberty, Cryptorchidism, Hydrocephalus, Small hand, Short foot, Clinodactyly, Decrease...	OMIM:616222
Band Heterotopia	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:600348
Ciliary Dyskinesia, Primary, 1	Pneumonia, Atelectasis, Bronchiectasis, Immotile cilia, Chronic rhinitis, Ciliary dyskinesia, Chr...	OMIM:244400
Pelvis-Shoulder Dysplasia	Syndactyly, Hydranencephaly, Camptodactyly of finger, Fifth finger distal phalanx clinodactyly, A...	ORPHA:2839
Adams-Oliver Syndrome	Encephalocele, Finger syndactyly, Brachydactyly, Abnormal pulmonary valve morphology, Absent toe,...	ORPHA:974
Ventriculomegaly With Defects Of The Radius And Kidney	Bowed forearm bones, Absent thumb, Absent radius, Hydrocephalus, Lateral ventricle dilatation, Fo...	OMIM:602200
Dyskeratosis Congenita, Autosomal Dominant 2	Dilated cardiomyopathy, Pulmonary fibrosis	OMIM:613989
Dyssegmental Dysplasia, Silverman-Handmaker Type	Encephalocele, Broad long bones, Micromelia, Bowing of the legs, Hypoplastic ilia, Cryptorchidism...	ORPHA:1865
Triploidy	Finger syndactyly, Hypoplasia of penis, Hypospadias, Cryptorchidism, Hydrocephalus, Meningocele, ...	ORPHA:3376
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Rhizomelia, Hydrocephalus, Metaphyseal cupping of proximal phalanges, Metaphyseal cupping of meta...	OMIM:300863
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Shoulder dislocation, Arachnodactyly, Hydrocephalus, Adducted thumb	ORPHA:2181
Methylmalonic Acidemia With Homocystinuria	Hydrocephalus	ORPHA:26
C1Q Deficiency 2	Vasculitis in the skin, Recurrent lower respiratory tract infections, Atelectasis, Bronchiectasis	OMIM:620321
Dandy-Walker Malformation With Postaxial Polydactyly	Dilated fourth ventricle, Hydrocephalus, Postaxial hand polydactyly, Aortic valve stenosis, Dandy...	OMIM:220220
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Ventriculomegaly, Radial bowing, Single transverse palmar crease, Micromelia, Postaxial polydacty...	OMIM:617866
Gómez-López-Hernández Syndrome	Hydrocephalus	ORPHA:1532
Hughes-Stovin Syndrome	Pulmonary embolism, Dyspnea, Vasculitis, Cardiorespiratory arrest, Cough, Pulmonary artery aneury...	ORPHA:228116
Thanatophoric Dysplasia Type 1	Bowing of the long bones, Short femur, Micromelia, Hypoplastic ilia, Abnormal sacroiliac joint mo...	ORPHA:1860
Cousin Syndrome	Ambiguous genitalia, female, Prominent protruding coccyx, Ambiguous genitalia, male, Hypoplastic ...	OMIM:260660
Fried Syndrome	Hydrocephalus	ORPHA:85335
Osteopetrosis, Autosomal Recessive 2	Pancytopenia, Extramedullary hematopoiesis, Hydrocephalus, Diaphyseal sclerosis, Hepatosplenomega...	OMIM:259710
Pulmonary Hypertension, Primary, 2	Increased pulmonary vascular resistance, Pulmonary arterial hypertension, Abnormally loud pulmoni...	OMIM:615342
Nasu-Hakola Disease	Hydrocephalus, Abnormal epiphysis morphology, Ventriculomegaly, Acute leukemia	ORPHA:2770
Overlap Myositis	Raynaud phenomenon, Pulmonary arterial hypertension, Hypertension, Abnormal pulmonary interstitia...	ORPHA:206572
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Aqueductal stenosis, Hydrocephalus, Holoprosencephaly, Adducted thumb	ORPHA:2182
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Short humerus, Dextrocardia, Proximal placement of thumb, Absent radius, Hydrocephalus, Hand poly...	OMIM:314390
Pseudotrisomy 13 Syndrome	Encephalocele, Ventricular septal defect, Dextrocardia, Cryptorchidism, Complete atrioventricular...	OMIM:264480
Hermansky-Pudlak Syndrome 2	Prolonged bleeding time, Recurrent pneumonia, Pulmonary fibrosis	OMIM:608233
Achondroplasia	Rhizomelia, Hip joint hypermobility, Bowing of the legs, Short proximal phalanx of finger, Hydroc...	ORPHA:15
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Intestinal bleeding, Gastrointestinal telangiectasia, Pulmonary fibrosis, Retinal telangiectasia	OMIM:612199
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Fused labia majora, Adrenal hyperplasia, Femoral bowing, Abnormal ovarian morphology, Micropenis,...	ORPHA:95699
Congenital Muscular Dystrophy, Fukuyama Type	Hydrocephalus, Dilated cardiomyopathy, Camptodactyly of finger, Ventriculomegaly	ORPHA:272
Fanconi Anemia, Complementation Group B	Ventriculomegaly, Aplastic anemia, Hypergonadotropic hypogonadism, Ventricular septal defect, Abs...	OMIM:300514
Microphthalmia With Limb Anomalies	Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of the 5th finge...	ORPHA:1106
Methylcobalamin Deficiency Type Cble	Syndactyly, Macrocytic anemia, Pancytopenia, Hydrocephalus, Increased mean corpuscular volume, Ne...	ORPHA:2169
Corpus Callosum, Partial Agenesis Of, X-Linked	Hydrocephalus, Ventriculomegaly, Dislocated radial head	OMIM:304100
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Aortic valve stenosis, Bicuspid aortic valve, Hydrocephalus	OMIM:615599
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Cryptorchidism, Hydrocephalus, Hypogonadism	OMIM:601794
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut...	OMIM:618849
Craniofacial Dyssynostosis With Short Stature	Ventricular septal defect, Hypospadias, Cryptorchidism, Hydrocephalus, Ventriculomegaly	OMIM:218350
47,Xyy Syndrome	Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Hydrocephalus, Oligozoospe...	ORPHA:8
Bresek Syndrome	Cryptorchidism, Postaxial hand polydactyly, Hydrocephalus, Neonatal death, Decreased testicular size	ORPHA:85284
Gorlin Syndrome	Arachnodactyly, Hypogonadotropic hypogonadism, Palmar pits, Cryptorchidism, Hydrocephalus, Brachy...	ORPHA:377
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Occipital encephalocele, Hydrocephalus, Ventriculomegaly	ORPHA:324416
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Paresis of extensor muscles of the big toe, Abnormality of the hand, Hand muscle weakness, Hydroc...	ORPHA:99947
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Prolonged bleeding time, Pulmonary embolism, Congestive heart failur...	ORPHA:90308
Dyskeratosis Congenita, Autosomal Recessive 1	Pulmonary fibrosis	OMIM:224230
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Ventricular septal defect, Cryptorchidism, Hydrocephalus, Drumstick terminal phalanges, Hypertrop...	OMIM:612938
Proteus-Like Syndrome	Communicating hydrocephalus, Thymus hyperplasia, Splenomegaly, Abnormality of the parathyroid gla...	ORPHA:2969
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Clinodactyly of the 5th finger, Hydrocephalus	ORPHA:1516
Frontal Encephalocele	Encephalocele, Hydrocephalus, Spina bifida	ORPHA:1931
Spastic Paraplegia Type 2	Recurrent respiratory infections, Pulmonary embolism	ORPHA:99015
Fanconi Anemia, Complementation Group D2	Pancytopenia, Hypergonadotropic hypogonadism, Absent thumb, Absent radius, Cryptorchidism, Thromb...	OMIM:227646
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Recurrent lower respiratory tract infections, Interstitial pneumonitis, Recurrent upper respirato...	OMIM:615952
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Hypospadias, Microcytic anemia, Cryptorchidism, Short toe, Talipes equinovarus, HbH hemoglobin	ORPHA:98791
Trisomy 1Q	Small scrotum, Arachnodactyly, Ventricular septal defect, Toe syndactyly, Camptodactyly of finger...	ORPHA:261344
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Hydrocephalus, Bilateral talipes equinovarus	OMIM:618174
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Encephalocele, Bowing of the long bones, Broad long bones, Micromelia, Metaphyseal widening, Hydr...	OMIM:224400
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Short palm, Rhizomelia, Metaphyseal chondrodysplasia, Abnormality of the calcaneus, Hydrocephalus...	ORPHA:163966
Spondyloepimetaphyseal Dysplasia, Krakow Type	Rhizomelia, Ulnar deviation of the wrist, Hydrocephalus, 2-3 toe syndactyly, Delayed pubic bone o...	OMIM:618162
Short-Rib Thoracic Dysplasia 12	Hypoplastic scapulae, Ventricular septal defect, Bowing of the legs, Splenomegaly, Short toe, Hyd...	OMIM:269860
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Arachnodactyly, Rocker bottom foot, Ulnar bowing, Humeroradial synostosis, Hydrocephalus, Femoral...	OMIM:207410
Congenital Disorder Of Glycosylation, Type Iil	Pancytopenia, Ventriculomegaly, Ventricular septal defect, Postaxial polydactyly, Splenomegaly, H...	OMIM:614576
Fixed Subaortic Stenosis	Aortic regurgitation, Orthopnea, Paroxysmal atrial fibrillation, Angina pectoris, Dyspnea, Patent...	ORPHA:3092
Diabetic Embryopathy	Ventricular septal defect, Cryptorchidism, Hydrocephalus, Tetralogy of Fallot, Spinal dysraphism,...	ORPHA:1926
Pfeiffer Syndrome Type 2	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hallux varus, Aqueductal s...	ORPHA:93259
Dextrocardia	Congenital hip dislocation, Dextrocardia, Abnormal reproductive system morphology, Abnormality of...	ORPHA:1666
Hermansky-Pudlak Syndrome 10	Recurrent respiratory infections, Apnea, Abnormal pulmonary interstitial morphology	OMIM:617050
Mohr Syndrome	Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Hydrocephalus, Flared metaphys...	OMIM:252100
Complete Atrioventricular Septal Defect	Abnormal EKG, Tachycardia, Left-to-right shunt, Intercostal retractions, Crackles, Right ventricu...	ORPHA:1329
Thanatophoric Dysplasia, Type I	Bowing of the long bones, Small abnormally formed scapulae, Hypoplastic ilia, Hydrocephalus, Flar...	OMIM:187600
Hogue-Janssen Syndrome 2	Broad hallux, Postaxial polydactyly, Hydrocephalus, Hip dysplasia, Deviation of the 5th finger, V...	OMIM:616362
Oculocerebrocutaneous Syndrome	Finger syndactyly, Ventriculomegaly, Congenital hip dislocation, Aplasia/Hypoplasia of the distal...	ORPHA:1647
Alexander Disease	Hydrocephalus, Increased CSF protein concentration	OMIM:203450
Cardiogenic Shock	Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction...	ORPHA:97292
Osteopetrosis, Autosomal Recessive 1	Pancytopenia, Femur fracture, Splenomegaly, Hydrocephalus, Flared metaphysis, Coxa vara, Anemia, ...	OMIM:259700
Vitamin K Antagonist Embryofetopathy	Myelomeningocele, Hydrocephalus, Epiphyseal stippling, Short distal phalanx of finger, Brachydactyly	ORPHA:1914
Edinburgh Malformation Syndrome	Long fingers, Hydrocephalus, Slender finger, Ulnar deviation of finger	ORPHA:1895
Otopalatodigital Syndrome Type 2	Encephalocele, Bowing of the long bones, Abnormal heart valve morphology, Hypospadias, Short hall...	ORPHA:90652
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Myocardial necrosis, Pancytopenia, Metaphyseal sclerosis, Metaphyseal cho...	OMIM:260400
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Purpura, Subcutaneous hemorrhage, Pulmonary embolism	ORPHA:743
Atrial Septal Defect, Ostium Secundum Type	Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Sup...	ORPHA:99103
Hec Syndrome	Communicating hydrocephalus, Cardiomyopathy, Vaginal hydrocele, Endocardial fibroelastosis	ORPHA:2119
Dominant Beta-Thalassemia	Hypoparathyroidism, Bowing of the long bones, Extramedullary hematopoiesis, Decreased mean corpus...	ORPHA:231226
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency	Purpura, Pulmonary embolism	ORPHA:745
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Occipital encephalocele, Hydrocephalus	ORPHA:352682
L1 Syndrome	Aqueductal stenosis, Hydrocephalus, Adducted thumb	ORPHA:275543
Gaucher Disease Type 1	Pulmonary arterial hypertension, Bruising susceptibility, Gingival bleeding, Abnormal pulmonary i...	ORPHA:77259
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Long toe, Absent gallbladder, Hyperextensibility of the finger joints, Hypospadias, Ventricular s...	ORPHA:163979
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Bronchiolitis obliterans	OMIM:617241
Functioning Gonadotropic Adenoma	Macroorchidism, postpubertal, Decreased response to growth hormone stimulation test, Isosexual pr...	ORPHA:91348
Pfeiffer Syndrome	Finger syndactyly, Syndactyly, Shortening of all middle phalanges of the fingers, Broad hallux, H...	OMIM:101600
Griscelli Syndrome	Encephalocele, Abnormality of neutrophils, Splenomegaly, Hydrocephalus, Lymphadenopathy, Leukopen...	ORPHA:381
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Hydrocephalus, Bicuspid aortic valve	ORPHA:397951
Beemer-Ertbruggen Syndrome	Ambiguous genitalia, Cryptorchidism, Communicating hydrocephalus, Thrombocytopenia	ORPHA:1237
Myopathy, Centronuclear, X-Linked	Arachnodactyly, Cryptorchidism, Hydrocephalus, Slender toe, Dandy-Walker malformation	OMIM:310400
Krabbe Disease	Hydrocephalus, Increased CSF protein concentration, Autoimmune thrombocytopenia	OMIM:245200
2,4-Dienoyl-Coa Reductase Deficiency	Hydrocephalus, Increased CSF lactate, Colpocephaly, Increased CSF lysine concentration, Ventricul...	OMIM:616034
Beta-Thalassemia Major	Hypoparathyroidism, Bowing of the long bones, Extramedullary hematopoiesis, Decreased mean corpus...	ORPHA:231214
Papillary Tumor Of The Pineal Region	Hydrocephalus, Increased CSF protein concentration	ORPHA:251915
Absent Radius-Anogenital Anomalies Syndrome	Hydrocephalus, Hypoplasia of the radius, Perineal fistula, Ectrodactyly, Rectovaginal fistula, Ol...	ORPHA:3016
Intellectual Developmental Disorder, Autosomal Dominant 39	Hydrocephalus, Bilateral talipes equinovarus	OMIM:616521
Sarcoidosis	Abnormal cardiac ventricular function, Portal hypertension, Abnormal pleura morphology, Heart blo...	ORPHA:797
Gaucher Disease	Abnormal bleeding, Abnormal pulmonary interstitial morphology, Respiratory insufficiency, Gingiva...	ORPHA:355
Isolated Anencephaly	Thymus hyperplasia	ORPHA:563609
Muenke Syndrome	Tarsal synostosis, Hydrocephalus, Cone-shaped epiphysis, Short foot, Short palm, Carpal synostosis	ORPHA:53271
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts	Communicating hydrocephalus, Endocardial fibroelastosis	OMIM:600559
Atrial Septal Defect, Coronary Sinus Type	Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic component of the second heart ...	ORPHA:99104
Heterotaxy, Visceral, 1, X-Linked	Congenital hip dislocation, Cardiomegaly, Asplenia, Aqueductal stenosis, Dextrotransposition of t...	OMIM:306955
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Spontaneous, recurrent epistaxis, Abnormal pulmonary interstitial morphology, Pulmonary arterial ...	ORPHA:2072
Trisomy 8P	Short fourth metatarsal, Abnormal atrioventricular connection, Single transverse palmar crease, A...	ORPHA:264450
Idiopathic Pulmonary Arterial Hypertension	Tricuspid regurgitation, Increased pulmonary vascular resistance, Dyspnea, Congestive heart failu...	ORPHA:275766
Meckel Syndrome, Type 6	Abnormal internal genitalia, Absent gallbladder, Occipital encephalocele, Postaxial hand polydact...	OMIM:612284
Fanconi Anemia	Abnormal femur morphology, Leukopenia, Abnormality of the uterus, Triphalangeal thumb, Atrial sep...	ORPHA:84
Neural Tube Defects, Susceptibility To	Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly	OMIM:182940
Rhombencephalosynapsis	Finger syndactyly, Hydrocephalus, Polydactyly, Abnormality of the uterus, Complete duplication of...	ORPHA:59315
Beta-Thalassemia Intermedia	Hypoparathyroidism, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate...	ORPHA:231222
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Ventricular septal defect, Postaxial polydactyly, Hydrocephalus, Atrial septal defect, Ventriculo...	OMIM:603387
Diamond-Blackfan Anemia	Pure red cell aplasia, Reticulocytopenia, Leukopenia, Triphalangeal thumb, Neutropenia, Atrial se...	ORPHA:124
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Cardiomyopathy, Hydrocephalus	OMIM:613155
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Cardiomegaly, Shoulder dislocation, Atrial septal defect, Patent foramen o...	OMIM:245600
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Hypoplasia of penis, Hypospadias, Ventricular septal defect, Cryptorchidism, Hydrocephalus, Holop...	ORPHA:77298
Chromosome 6Pter-P24 Deletion Syndrome	Broad toe, Ventricular septal defect, Rocker bottom foot, Hydrocephalus, Short 2nd toe, Hip dyspl...	OMIM:612582
Tetrasomy 15Q26	Arachnodactyly, Hydrocephalus, Camptodactyly, Atrial septal defect, Dandy-Walker malformation	OMIM:614846
Craniotelencephalic Dysplasia	Hydrocephalus, Frontal encephalocele	ORPHA:1528
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Finger syndactyly, Toe syndactyly, Hydrocephalus, Hand polydactyly, Foot polydactyly, Ventriculom...	ORPHA:60040
Q Fever	Respiratory distress, Pericarditis, Pneumonia, Myocarditis, Vasculitis, Abnormal pulmonary inters...	ORPHA:781
1Q21.1 Microdeletion Syndrome	Broad hallux phalanx, Toe syndactyly, Cryptorchidism, Hydrocephalus, Short foot, Abnormal cardiac...	ORPHA:250989
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Brachydactyly, Hydrocephalus, Abnormal metacarpal morphology	ORPHA:93262
Apert Syndrome	Syndactyly, Finger syndactyly, Overriding aorta, Ventricular septal defect, Limited elbow movemen...	OMIM:101200
Focal Facial Dermal Dysplasia Type Iv	Hydrocephalus, Abnormal mast cell morphology	ORPHA:398189
Hydrolethalus	Micromelia, Cryptorchidism, Postaxial hand polydactyly, Hydrocephalus, Anencephaly, Abnormal fall...	ORPHA:2189
Fg Syndrome Type 1	Finger syndactyly, Limited elbow extension and supination, Broad toe, Hypospadias, Single transve...	ORPHA:93932
Acrofacial Dysostosis 1, Nager Type	Aplasia/Hypoplasia of the thumb, Aqueductal stenosis, Foot oligodactyly, Triphalangeal thumb, Bro...	OMIM:154400
Intellectual Developmental Disorder, X-Linked 30	Prominent fingertip pads, Hydrocephalus	OMIM:300558
Acrodysostosis 1 With Or Without Hormone Resistance	Short metacarpal, Brachydactyly, Cryptorchidism, Hydrocephalus, Neonatal epiphyseal stippling, Sh...	OMIM:101800
Williams-Beuren Region Duplication Syndrome	Cryptorchidism, Hydrocephalus, Decreased response to growth hormone stimulation test, Ventriculom...	OMIM:609757
Emanuel Syndrome	Ventriculomegaly, Congenital hip dislocation, Truncus arteriosus, Ventricular septal defect, Cryp...	OMIM:609029
Chromosome 6Q24-Q25 Deletion Syndrome	Prominent fingertip pads, Sandal gap, Hydrocephalus, Dysplastic tricuspid valve, Small hand, Mitr...	OMIM:612863
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Left ventricular hypertrophy, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:613153
Polycythemia Vera	Gastrointestinal hemorrhage, Angina pectoris, Epistaxis, Portal hypertension, Pulmonary embolism,...	ORPHA:729
Multiple Sulfatase Deficiency	Broad hallux, Splenomegaly, Hydrocephalus, Increased CSF protein concentration, Broad thumb, Vent...	OMIM:272200
Chromosome 17P13.1 Deletion Syndrome	Hallux valgus, Arachnodactyly, Broad hallux, Proximal placement of thumb, Tapered finger, Spina b...	OMIM:613776
Gaucher Disease, Type Iiic	Pancytopenia, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,...	OMIM:231005
Adams-Oliver Syndrome 2	Single transverse palmar crease, Hydrocephalus, Lateral ventricle dilatation, Absent distal phala...	OMIM:614219
Achondroplasia	Brachydactyly, Radial bowing, Rhizomelia, Short femur, Bowing of the legs, Ulnar bowing, Hydrocep...	OMIM:100800
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Hypospadias, Ventricular septal defect, Tapered finger, Coxa valga, Cryptorchidism, Clinodactyly,...	OMIM:301040
Dubowitz Syndrome	Hypoparathyroidism, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Hypospadias, Sandal gap, Abn...	ORPHA:235
Oculocerebral Hypopigmentation Syndrome, Preus Type	Arachnodactyly, Abnormality of neutrophils, Hydrocephalus, Abnormal hip bone morphology, Hypochro...	ORPHA:2720
Osteopetrosis, Autosomal Recessive 5	Pancytopenia, Extramedullary hematopoiesis, Ventriculomegaly, Splenomegaly, Leukocytosis, Hydroce...	OMIM:259720
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Lissencephaly 5	Occipital encephalocele, Hydrocephalus	OMIM:615191
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Syndactyly, Congenital hip dislocation, Absent nipple, Hydrocephalus, Mitral valve prolapse, Cubi...	OMIM:104350
Melanosis, Neurocutaneous	Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation	OMIM:249400
Distal Triplication 15Q	Arachnodactyly, Abnormal external genitalia, Hydrocephalus, Abnormal heart morphology, Hydrocele ...	ORPHA:314588
Pseudoaminopterin Syndrome	Brachydactyly, Overlapping toe, Single transverse palmar crease, Limited elbow movement, Postaxia...	ORPHA:221120
Waardenburg Syndrome Type 3	Tracheomalacia, Atelectasis	ORPHA:896
Intellectual Developmental Disorder, Autosomal Recessive 68	Hydrocephalus	OMIM:618302
Ventriculomegaly With Cystic Kidney Disease	Hydrocephalus, Ventricular septal defect, Ventriculomegaly, Postaxial polydactyly	OMIM:219730
Meckel Syndrome	Accessory spleen, Encephalocele, Bowing of the long bones, True hermaphroditism, Pancreatic fibro...	ORPHA:564
Meckel Syndrome, Type 1	Occipital encephalocele, External genital hypoplasia, Asplenia, Ambiguous genitalia, female, Ambi...	OMIM:249000
Autoimmune Lymphoproliferative Syndrome	Abnormal bleeding, Vasculitis, Pulmonary fibrosis, Bruising susceptibility	ORPHA:3261
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Coxa valga, Hydrocephalus, Hammertoe, Hip dysplasia, Colpocephaly, Acetabular dysplasia, Ventricu...	OMIM:619833
Hydrocephalus, Congenital, 5, Susceptibility To	Aqueductal stenosis, Noncommunicating hydrocephalus	OMIM:620241
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Hydrocephalus, Sandal gap, Brachydactyly	ORPHA:2180
Emanuel Syndrome	Ventriculomegaly, Congenital hip dislocation, Truncus arteriosus, Ventricular septal defect, Cryp...	ORPHA:96170
Opitz-Kaveggia Syndrome	Syndactyly, Hypospadias, Single transverse palmar crease, Broad hallux, Cryptorchidism, Hydroceph...	OMIM:305450
Congenital Tracheomalacia	Apnea, Decreased peak expiratory flow, Cough, Emphysema, Neonatal respiratory distress, Intercost...	ORPHA:95430
Axenfeld-Rieger Syndrome, Type 2	Cryptorchidism, Hydrocephalus, Hypospadias, Abnormal heart morphology	OMIM:601499
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Hydrocephalus, Small hand, Camptodactyly, Atrial septal defect, Aortic valve stenosis, Dandy-Walk...	ORPHA:459061
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Hydrocephalus, Hip dislocation, Ventriculomegaly, Coxa valga	OMIM:109120
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Communicating hydrocephalus, Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic micr...	OMIM:616084
Crouzon Syndrome With Acanthosis Nigricans	Hydrocephalus	OMIM:612247
Acquired Aneurysmal Subarachnoid Hemorrhage	Leukocytosis, Hyperglycorrhachia, Hydrocephalus, Increased CSF lactate, Left ventricular hypertro...	ORPHA:90065
Hydrocephalus, Congenital, 4	Communicating hydrocephalus, Ventriculomegaly	OMIM:618667
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Hypoplasia of penis, Sandal gap, Supernumerary nipple, Cryptorchidism, Hydrocephalus, Abnormal fi...	ORPHA:1812
Monosomy 18Q	Absence of the pulmonary valve, Abnormal palmar dermatoglyphics, Arachnodactyly, Tapered finger, ...	ORPHA:1600
Optic Pathway Glioma	Precocious puberty, Hydrocephalus	ORPHA:2086
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	ORPHA:163961
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Short metatarsal, Femoral bowing, Tibial bowing, Atrial septal defect...	OMIM:304120
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Hypoplasia of penis, Hypospadias, Cryptorchidism, Postaxial hand polydactyly, Hydr...	ORPHA:2166
Townes-Brocks Syndrome 1	Bifid scrotum, Short metatarsal, Holoprosencephaly, Triphalangeal thumb, Atrial septal defect, 2-...	OMIM:107480
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Hypoplasia of penis, Ambiguous genitalia, Abnormal hemoglobin, Cryptorchidism, Male pseudohermaph...	ORPHA:847
H Syndrome	Hallux valgus, Microcytic anemia, Hydrocephalus, Hepatosplenomegaly, Lymphadenopathy, Azoospermia...	ORPHA:168569
Trisomy 17P	Hypoplasia of penis, Tapered finger, Hydrocephalus, Hypoplastic left heart, Clinodactyly of the 5...	ORPHA:261290
Peroxisome Biogenesis Disorder 12A (Zellweger)	Atrial septal defect, Hydrocephalus, Abnormality of the male genitalia, Cholelithiasis, Double ou...	OMIM:614886
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Cryptorchidism, Hydrocephalus, Small hand, Short foot, Hip dysplasia, Hypogonadism, Micropenis, D...	ORPHA:500055
Jacobsen Syndrome	Hypospadias, Ventricular septal defect, Cryptorchidism, Hydrocephalus, Clitoral hypoplasia, Clino...	OMIM:147791
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Congenital hip dislocation, Decreased response to growth hormone stimulation test, Tapered finger...	OMIM:616007
B4Galt1-Cdg	Splenomegaly, Hydrocephalus, Dandy-Walker malformation	ORPHA:79332
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Mend Syndrome	Broad hallux, Overlapping toe, Cryptorchidism, Long fingers, Hydrocephalus, 2-3 toe syndactyly, A...	ORPHA:401973
Central Neurocytoma	Abnormal lateral ventricle morphology, Hydrocephalus	ORPHA:73256
Mosaic Variegated Aneuploidy Syndrome 1	Bifid scrotum, Atrial septal defect, Ventriculomegaly, Hypospadias, Cryptorchidism, Hydrocephalus...	OMIM:257300
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Metaphyseal dysplasia, Pancytopenia, Congenital hip dislocation, Aplastic...	OMIM:617052
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Thymus hyperplasia, Arachnodactyly, Talipes equinovarus	OMIM:619036
Mucopolysaccharidosis, Type Vii	Abnormal heart valve morphology, Metatarsus adductus, Splenomegaly, Hydrocephalus, Genu valgum, C...	OMIM:253220
Hurler Syndrome	Hypoplasia of the femoral head, Coxa valga, Splenomegaly, Metaphyseal widening, Hydrocephalus, He...	OMIM:607014
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Cardiomegaly, Abnor...	ORPHA:3472
Hereditary Methemoglobinemia	Methemoglobinemia	ORPHA:621
Congenital Sialidosis Type 2	Abnormal heart morphology, Polydactyly, Hydrocephalus, Hepatosplenomegaly	ORPHA:93400
Mucopolysaccharidosis Type 1	Abnormal heart valve morphology, Splenomegaly, Hydrocephalus, Split hand, Abnormal aortic valve m...	ORPHA:579
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Pulmonary arteriovenou...	OMIM:187300
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Single transverse palmar crease, Micromelia, Delayed epiphyseal ossification, Preaxial polydactyl...	OMIM:210710
Diamond-Blackfan Anemia 1	Macrocytic anemia, Ventricular septal defect, Tricuspid stenosis, Congenital hypoplastic anemia, ...	OMIM:105650
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Aplastic clavicle, Micromelia, Postaxial polydactyly, Hydrocephalus, Preaxial polydactyly, Anence...	OMIM:616546
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Hydrocephalus, Nasofrontal encephalocele, Small pituitary gland, Ventriculomegaly	OMIM:614195
Alexander Disease Type I	Hydrocephalus	ORPHA:363717
Multiple Sulfatase Deficiency	Splenomegaly, Hydrocephalus, Broad hallux phalanx, Broad thumb	ORPHA:585
Oxoglutaric Aciduria	Abnormal salivary gland morphology, Hydrocephalus	ORPHA:31
Basal Cell Nevus Syndrome 1	Ovarian fibroma, Down-sloping shoulders, Spina bifida, Palmar pits, Hydrocephalus, Irregular ossi...	OMIM:109400
Dyskeratosis Congenita, X-Linked	Restrictive ventilatory defect, Pulmonary fibrosis	OMIM:305000
Houge-Janssens Syndrome 1	Hydrocephalus, Congenital hip dislocation, Ventriculomegaly	OMIM:616355
Axial Mesodermal Dysplasia Spectrum	Abnormality of the spleen, Abnormal pelvic girdle bone morphology, Abnormal morphology of female ...	ORPHA:1834
Myotubular Myopathy With Abnormal Genital Development	Respiratory distress, Atelectasis	OMIM:300219
Thoracic Dysplasia-Hydrocephalus Syndrome	Limb undergrowth, Abnormal metaphysis morphology, Communicating hydrocephalus	ORPHA:1861
Hereditary Hemorrhagic Telangiectasia	Conjunctival telangiectasia, Gastrointestinal hemorrhage, Transient ischemic attack, Epistaxis, P...	ORPHA:774
Congenital Muscular Dystrophy With Cerebellar Involvement	Dilated fourth ventricle, Occipital encephalocele, Hydrocephalus, Cardiomyopathy, Ventriculomegaly	ORPHA:370959
Intellectual Developmental Disorder, Autosomal Dominant 65	Single transverse palmar crease, Noncommunicating hydrocephalus, Short foot, Short palm, Clinodac...	OMIM:619320
Joubert Syndrome 14	Encephalocele, Ventricular septal defect, Postaxial polydactyly, Hydrocephalus, Meningocele, Dand...	OMIM:614424
Hurler Syndrome	Abnormal heart valve morphology, Camptodactyly of finger, Splenomegaly, Hydrocephalus, Abnormalit...	ORPHA:93473
Muscle-Eye-Brain Disease	Hydrocephalus, Meningocele, Holoprosencephaly	ORPHA:588
Fraser Syndrome 3	Hypoplasia of penis, Small scrotum, Short toe, Hydrocephalus, Cutaneous syndactyly, Stillbirth	OMIM:617667
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Tapered finger, Short toe, Hydrocephalus, Abnormal heart morphology, Delayed ossification of carp...	OMIM:239300
Hydrolethalus Syndrome 1	Accessory spleen, Hypospadias, Ventricular septal defect, Bifid uterus, Complete atrioventricular...	OMIM:236680
Lowry-Maclean Syndrome	Hypospadias, Single transverse palmar crease, Bilateral cryptorchidism, Hydrocephalus, Atrioventr...	ORPHA:2409
Mucopolysaccharidosis, Type Vi	Epiphyseal dysplasia, Splenomegaly, Metaphyseal widening, Split hand, Hydrocephalus, Genu valgum,...	OMIM:253200
Gaucher Disease Type 3	Pulmonary arterial hypertension, Abnormal pulmonary interstitial morphology, Recurrent respirator...	ORPHA:77261
Lenz-Majewski Hyperostotic Dwarfism	Abnormal penis morphology, Finger syndactyly, Hypospadias, External genital hypoplasia, Aplastic ...	ORPHA:2658
Limb Body Wall Complex	Encephalocele, Duplication of hand bones, Ventricular septal defect, Broad hallux, Aplasia/hypopl...	ORPHA:2369
Campomelic Dysplasia	Anterior tibial bowing, Delayed epiphyseal ossification, Patellar hypoplasia, Femoral bowing, Sex...	OMIM:114290
Smith-Lemli-Opitz Syndrome	Bifid scrotum, Small scrotum, Micromelia, Proximal placement of thumb, 2-3 toe cutaneous syndacty...	OMIM:270400
Pontocerebellar Hypoplasia, Type 7	Single transverse palmar crease, Cryptorchidism, Hydrocephalus, Ambiguous genitalia, Micropenis, ...	OMIM:614969
Encephalocraniocutaneous Lipomatosis	Ventricular septal defect, Cryptorchidism, Hydrocephalus, Subvalvular aortic stenosis, Atrial sep...	OMIM:613001
Linear Skin Defects With Multiple Congenital Anomalies 1	Overriding aorta, Hypospadias, Ventricular septal defect, Single transverse palmar crease, Ovotes...	OMIM:309801
Hyperparathyroidism, Transient Neonatal	Communicating hydrocephalus, Hyperparathyroidism, Short femur, Metaphyseal spurs, Femoral bowing,...	OMIM:618188
Mucopolysaccharidosis, Type Ii	Abnormal heart valve morphology, Splenomegaly, Hydrocephalus, Split hand, Hepatosplenomegaly	OMIM:309900
Whipple Disease	Pericarditis, Splenomegaly, Mediastinal lymphadenopathy, Myocarditis, Hydrocephalus, Anemia	ORPHA:3452
Desmosterolosis	Micromelia, Metatarsus adductus, Splenomegaly, Hydrocephalus, Anomalous pulmonary venous return, ...	ORPHA:35107
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Hydrocephalus, Ventriculomegaly, Colpocephaly, Brachydactyly	OMIM:620156
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Communicating hydrocephalus, Hydrocephalus, Colpocephaly, Atrial septal defect, Ventriculomegaly,...	OMIM:615219
Apert Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Micromelia, Hydrocephalus, Ov...	ORPHA:87
Shprintzen-Goldberg Craniosynostosis Syndrome	Arachnodactyly, Metatarsus adductus, Cryptorchidism, Metaphyseal widening, Hydrocephalus, Mitral ...	OMIM:182212
Fusariosis	Sinusitis, Lung abscess, Pneumonia, Productive cough, Hypersensitivity pneumonitis, Bronchiectasi...	ORPHA:228119
Mend Syndrome	Broad hallux, Overlapping toe, Cryptorchidism, Long fingers, Hydrocephalus, 2-3 toe syndactyly, P...	OMIM:300960
Knobloch Syndrome 2	Recurrent respiratory infections, Patent ductus arteriosus, Abnormal pulmonary interstitial morph...	OMIM:618458
Neurooculorenal Syndrome	Ectopic posterior pituitary, Dextrocardia, Short hallux, Aqueductal stenosis, Cryptorchidism, Sho...	OMIM:620305
Walker-Warburg Syndrome	Hypoplasia of penis, Ventriculomegaly, Cryptorchidism, Hydrocephalus, Metatarsus valgus, Dandy-Wa...	ORPHA:899
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Rhizomelia, Hydrocephalus, Palmoplantar cutis laxa, Tibial bowing, Femoral bowing, Uterine leiomy...	OMIM:616482
Joubert Syndrome	Encephalocele, Situs inversus totalis, Hydrocephalus, Hand polydactyly, Foot polydactyly	ORPHA:475
Lhermitte-Duclos Disease	Hydrocephalus, Hand polydactyly, Ovarian neoplasm	ORPHA:65285
Isotretinoin Embryopathy-Like Syndrome	Hydrocephalus, Conotruncal defect	OMIM:243440
Coccidioidomycosis	Abnormal sperm morphology, Pericarditis, Eosinophilia, Abnormality of the spleen, Mediastinal lym...	ORPHA:228123
Icf Syndrome	Anemia, Lymphopenia, Communicating hydrocephalus, Abnormality of neutrophils	ORPHA:2268
Tetrasomy 5P	Overlapping toe, Short hallux, Long fingers, Hydrocephalus, Talipes equinovarus, Clinodactyly of ...	ORPHA:3309
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Hypoventilation, Atelectasis, Respiratory insufficiency, Pulmonary arterial hypertension, Respira...	ORPHA:258
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of hemoglobin F, Atrial septal defect, Ventricular septal defect	OMIM:619769
Fanconi Anemia, Complementation Group L	Absent thumb, Absent radius, Hydrocephalus, Bilateral talipes equinovarus, Bone marrow hypocellul...	OMIM:614083
Marfanoid-Progeroid-Lipodystrophy Syndrome	Hyperextensibility of the finger joints, Scapular winging, Lateral ventricular asymmetry, Arachno...	OMIM:616914
Lymphangioleiomyomatosis	Gastrointestinal hemorrhage, Recurrent respiratory infections, Dyspnea, Atelectasis, Pneumothorax...	ORPHA:538
Hydrocephaly-Low Insertion Umbilicus Syndrome	Communicating hydrocephalus, Tetralogy of Fallot, Anomalous pulmonary venous return	ORPHA:2184
Primary Sjögren Syndrome	Purpura, Lymphocytic interstitial pneumonia, Bronchitis, Raynaud phenomenon, Nonproductive cough,...	ORPHA:289390
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	OMIM:260500
Hereditary Cryohydrocytosis With Reduced Stomatin	Communicating hydrocephalus, Spontaneous hemolytic crises, Hepatosplenomegaly, Stomatocytosis, Hy...	ORPHA:168577
Coach Syndrome 2	Hydrocephalus	OMIM:619111
Joubert Syndrome With Ocular Defect	Encephalocele, Dextrocardia, Hydrocephalus, Hand polydactyly, Foot polydactyly	ORPHA:220493
Isotretinoin-Like Syndrome	Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Hydrocephalus, Conotruncal defect, ...	ORPHA:2306
Lujo Hemorrhagic Fever	Respiratory distress, Shock, Crackles, Excessive bleeding after a venipuncture, Nonproductive cou...	ORPHA:319213
Chiari Malformation Type Ii	Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida	OMIM:207950
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Hydrocephalus	OMIM:615181
Aymé-Gripp Syndrome	Pericarditis, Rocker bottom foot, Tapered finger, Pericardial effusion, Cryptorchidism, Hydroceph...	ORPHA:1272
Shprintzen-Goldberg Syndrome	Communicating hydrocephalus, Bowing of the long bones, Arachnodactyly, Camptodactyly of finger, E...	ORPHA:2462
Osteopetrosis, Autosomal Recessive 7	Femur fracture, Splenomegaly, Hydrocephalus, Lateral ventricle dilatation, Anemia	OMIM:612301
Desmosterolosis	Rhizomelia, Hydrocephalus, Ambiguous genitalia, female, Ambiguous genitalia, male, Total anomalou...	OMIM:602398
Holoprosencephaly 14	Ventriculomegaly, Ventricular septal defect, Alobar holoprosencephaly, Aqueductal stenosis, Hydro...	OMIM:619895
Pituitary Deficiency Due To Rathke Cleft Cysts	Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Hydrocephalus, Pituitar...	ORPHA:91350
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Ventriculomegaly, Metaphyseal widening, Hydrocephalus, Diaphyseal sclerosis, Erlenmeyer flask def...	OMIM:618476
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Hydrocephalus, Hepatosplenomegaly, Anemia, Leukopenia, Abnormal heart morphology, Deep palmar cre...	ORPHA:505248
Cardiofaciocutaneous Syndrome	Abnormal heart valve morphology, Abnormal morphology of ulna, Cryptorchidism, Hydrocephalus, Genu...	ORPHA:1340
Orofaciodigital Syndrome I	Syndactyly, Pancreatic cysts, Myelomeningocele, Hydrocephalus, Abnormal heart morphology, Ovarian...	OMIM:311200
Primary Fanconi Renotubular Syndrome	Pulmonary fibrosis	ORPHA:3337
Rajab Interstitial Lung Disease With Brain Calcifications 1	Portal hypertension, Tachypnea, Abnormal pulmonary interstitial morphology, Respiratory insuffici...	OMIM:613658
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Hydrocephalus, Dilated cardiomyopathy, Myocardial fibrosis, Transposition of the g...	OMIM:253800
Hydrocephalus, Normal-Pressure, 1	Normal pressure hydrocephalus	OMIM:236690
Marshall-Smith Syndrome	Hallux valgus, Prominent fingertip pads, Ventricular septal defect, Bullet-shaped middle phalange...	OMIM:602535
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Tapered finger, Hydrocephalus, Hydrocele testis, Talipes equinovarus, Ventriculomegaly	OMIM:613603
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Bifid scrotum, Palmoplantar cutis gyrata, Cryptorchidism, Hydrocephalus, Palmoplantar keratoderma...	ORPHA:1555
Idiopathic Steroid-Resistant Nephrotic Syndrome	Respiratory tract infection, Pulmonary embolism	ORPHA:567548
Holoprosencephaly	Encephalocele, Hypoplasia of penis, Ventricular septal defect, Abnormal pulmonary valve morpholog...	ORPHA:2162
Agammaglobulinemia, X-Linked	Wheezing, Recurrent pneumonia, Bronchiectasis, Bronchiolitis obliterans, Recurrent sinusitis, Rec...	OMIM:300755
Catastrophic Antiphospholipid Syndrome	Angina pectoris, Transient ischemic attack, Myocardial infarction, Pulmonary embolism, Arterial o...	ORPHA:464343
1Q44 Microdeletion Syndrome	Hydrocephalus, Abnormal cardiac septum morphology, Ventriculomegaly	ORPHA:238769
Roberts-Sc Phocomelia Syndrome	Tetraphocomelia, Atrial septal defect, Phocomelia, Wrist flexion contracture, Accessory spleen, S...	OMIM:268300
Tetraamelia-Multiple Malformations Syndrome	Cryptorchidism, Hydrocephalus, Vaginal atresia, Aplasia/Hypoplasia involving the pelvis	ORPHA:3301
Beare-Stevenson Cutis Gyrata Syndrome	Bifid scrotum, Hypospadias, Overlapping toe, Hydrocephalus, Hypoplastic labia majora, Palmoplanta...	OMIM:123790
Chronic Thromboembolic Pulmonary Hypertension	Reduced vital capacity, Cardiac shunt, Pulmonary embolism, Increased pulmonary vascular resistanc...	ORPHA:70591
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Hallux valgus, Bowing of the long bones, Arachnodactyly, Phalangeal dislocation, Hypoplastic ilia...	ORPHA:536467
Osteootohepatoenteric Syndrome	Avascular necrosis of the capital femoral epiphysis, Hip dysplasia, Hydrocephalus, Anemia	OMIM:619377
15Q Overgrowth Syndrome	Contracture of the proximal interphalangeal joint of the 2nd finger, Arachnodactyly, Abnormal fin...	ORPHA:314585
Nephronophthisis 18	Hydrocephalus	OMIM:615862
Joubert Syndrome With Oculorenal Defect	Encephalocele, Hydrocephalus, Hand polydactyly, Foot polydactyly	ORPHA:2318
Immunodeficiency 97 With Autoinflammation	Recurrent sinopulmonary infections, Bronchiolitis obliterans organizing pneumonia	OMIM:619802
Crouzon Syndrome	Hydrocephalus	ORPHA:207
Autosomal Dominant Hyper-Ige Syndrome	Atelectasis, Recurrent respiratory infections, Cough	ORPHA:2314
Stromme Syndrome	Accessory spleen, Hydrocephalus, Stillbirth, Preaxial polydactyly	OMIM:243605
Marden-Walker Syndrome	Abnormal penis morphology, Hypospadias, Ventricular septal defect, Dextrocardia, Arachnodactyly, ...	ORPHA:2461
Vacterl With Hydrocephalus	Spina bifida, Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Hypoplasia of the radius, Hip d...	ORPHA:3412
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Hydranencephaly, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:225790
Cardiofaciocutaneous Syndrome 1	Hyperextensibility of the finger joints, Splenomegaly, Hydrocephalus, Deep palmar crease, Clinoda...	OMIM:115150
Thoracoabdominal Syndrome	Hypospadias, Hydrocephalus, Anencephaly, Transposition of the great arteries, Ectopia cordis	OMIM:313850
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Abnormal left ventricular function, Ecchymosis, Internal hemorrhage, Hemoper...	ORPHA:99827
Oeis Complex	Congenital hip dislocation, Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female...	OMIM:258040
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Abnormal p...	OMIM:614748
Kawasaki Disease	Pericarditis, Myocarditis, Congestive heart failure, Vasculitis, Recurrent pharyngitis, Abnormal ...	ORPHA:2331
22Q11.2 Deletion Syndrome	Hypoplasia of the thymus, Abnormality of the uterus, Atrial septal defect, Hypoparathyroidism, Hy...	ORPHA:567
Joubert Syndrome 2	Encephalocele, Enlarged fossa interpeduncularis, Postaxial hand polydactyly, Hydrocephalus, Posta...	OMIM:608091
Thymoma	Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Prostate neoplasm, Leukemia	ORPHA:99867
Spondylocostal Dysostosis 4, Autosomal Recessive	Dextrocardia, Situs inversus totalis, Hydrocephalus, Myelomeningocele, Spina bifida occulta	OMIM:613686
Hemangioblastoma	Hydrocephalus	ORPHA:252054
Wolf-Hirschhorn Syndrome	Single transverse palmar crease, Atrial septal defect, Accessory spleen, Hypospadias, Pseudoepiph...	OMIM:194190
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Broad hallux, Postaxial polydactyly, Hydrocephalus, Hip dysplasia, Aplasia of the vagina, Aplasia...	ORPHA:457284
Autosomal Recessive Malignant Osteopetrosis	Bowing of the long bones, Abnormal pulmonary valve morphology, Splenomegaly, Hydrocephalus, Lymph...	ORPHA:667
Cutis Laxa, Autosomal Recessive, Type Iib	Bowing of the long bones, Congenital hip dislocation, Hydrocephalus	OMIM:612940
Ehlers-Danlos Syndrome, Vascular Type	Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth...	OMIM:130050
Focal Dermal Hypoplasia	Congenital hip dislocation, Osteopathia striata, Short metatarsal, Clitoral hypoplasia, Foot olig...	OMIM:305600
Kabuki Syndrome	Hypoplasia of penis, Hypospadias, Precocious puberty, Cryptorchidism, Hydrocephalus, Small hand, ...	ORPHA:2322
7Q11.23 Microduplication Syndrome	Hypospadias, Ventricular septal defect, Single transverse palmar crease, Cryptorchidism, Long fin...	ORPHA:96121
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Pulmonary interstitial lymphocyte infiltration, Recurrent respiratory infections	OMIM:606367
Lateral Meningocele Syndrome	Ventricular septal defect, Bicuspid aortic valve, Cryptorchidism, Hydrocephalus, Meningocele	OMIM:130720
Farber Disease	Respiratory distress, Nodular pattern on pulmonary HRCT, Atelectasis, Recurrent upper respiratory...	ORPHA:333
Osteopathia Striata With Cranial Sclerosis	Arachnodactyly, Ventricular septal defect, Hydrocephalus, Osteopathia striata, Spina bifida occul...	OMIM:300373
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Hydrocephalus	OMIM:617542
Amelocerebrohypohidrotic Syndrome	Hydrocephalus	ORPHA:1946
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:617101
Koolen-De Vries Syndrome Due To A Point Mutation	Hand muscle atrophy, Prominent fingertip pads, Anomaly of lower limb diaphyses, Hypospadias, Decr...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hand muscle atrophy, Prominent fingertip pads, Anomaly of lower limb diaphyses, Hypospadias, Decr...	ORPHA:363958
Hajdu-Cheney Syndrome	Ventricular septal defect, Hypospadias, Cryptorchidism, Hydrocephalus, Foot acroosteolysis, Osteo...	OMIM:102500
Peho Syndrome	Hydrocephalus, Ventriculomegaly, Tapered finger	ORPHA:2836
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory distress, Orthopnea, Transient ischemic attack, Respiratory insufficiency due to musc...	ORPHA:365
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Congenital hip dislocation, Aqueductal stenosis, Cryptorchidism, Long fingers, Hydrocephalus, Bil...	OMIM:619512
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Intellectual Developmental Disorder, Autosomal Dominant 70	Hydrocephalus	OMIM:620157
Hajdu-Cheney Syndrome	Coarse metaphyseal trabecularization, Brachydactyly, Mitral stenosis, Hypospadias, Ventricular se...	ORPHA:955
Iniencephaly	Encephalocele, Rhizomelia, Rocker bottom foot, Spina bifida, Myelomeningocele, Hydrocephalus, Ane...	ORPHA:63259
Congenital Myopathy 22A, Classic	Hip contracture, Scapular winging, Normal pressure hydrocephalus, Congenital finger flexion contr...	OMIM:620351
Monosomy 9Q22.3	Ovarian fibroma, Palmar pits, Hydrocephalus, Cardiac fibroma, Polydactyly, Ventriculomegaly	ORPHA:77301
Joubert Syndrome With Renal Defect	Encephalocele, Hydrocephalus, Hand polydactyly	ORPHA:220497
Basal Cell Nevus Syndrome 2	Palmar pits, Hydrocephalus	OMIM:620343
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Pulmonary embolism, Respiratory tract infection, Dyspnea, Hypertension, Pleural effusion	ORPHA:567546
Simpson-Golabi-Behmel Syndrome, Type 1	Narrow greater sciatic notch, Short palm, Atrial septal defect, Hypospadias, Cryptorchidism, Shor...	OMIM:312870
Tetraamelia Syndrome 1	Hypoplasia of the fallopian tube, Absent external genitalia, Asplenia, Hydrocephalus, Hypoplastic...	OMIM:273395
Hypoplasminogenemia	Cervicitis, Hydrocephalus, Abnormal fallopian tube morphology, Abnormality of the ovary, Dandy-Wa...	ORPHA:722
Goodpasture Syndrome	Crackles, Nodular pattern on pulmonary HRCT, Increased DLCO, Tachypnea, Restrictive ventilatory d...	OMIM:233450
Lead Poisoning	Imbalanced hemoglobin synthesis, Abnormal T cell morphology, Oligozoospermia, Abnormal sperm morp...	ORPHA:330015
Cerebrooculonasal Syndrome	Encephalocele, Ventriculomegaly, Postaxial polydactyly, Postaxial hand polydactyly, Hydrocephalus...	OMIM:605627
Joubert Syndrome With Hepatic Defect	Splenomegaly, Postaxial hand polydactyly, Hydrocephalus, Occipital encephalocele	ORPHA:1454
Whim Syndrome	Sinusitis, Pneumonia, Respiratory tract infection, Atelectasis, Recurrent pneumonia, Recurrent up...	ORPHA:51636
Arachnoiditis	Hydrocephalus	ORPHA:137817
Cole-Carpenter Syndrome 2	Hydrocephalus, Narrow iliac wing	OMIM:616294
Baller-Gerold Syndrome	Limited elbow movement, Patellar hypoplasia, Spina bifida occulta, Hypoplasia of the ulna, Radial...	OMIM:218600
Cole-Carpenter Syndrome	Communicating hydrocephalus, Crumpled long bones, Abnormal metaphysis morphology, Bowing of the l...	ORPHA:2050
Pettigrew Syndrome	Aqueductal stenosis, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:304340
Osteogenesis Imperfecta	Micromelia, Abnormal tibia morphology, Abnormal femur morphology, Femoral bowing, Abnormal long b...	ORPHA:666
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Dandy-Walker malformation, Hydrocephalus, Lateral ventricle dilatation, Dilated third ventricle, ...	OMIM:613154
Peters-Plus Syndrome	Hypoplasia of the vagina, Bilobate gallbladder, Single transverse palmar crease, Limited elbow mo...	OMIM:261540
Crouzon Syndrome	Hydrocephalus, Dysgerminoma	OMIM:123500
Holoprosencephaly 9	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Cryptorchid...	OMIM:610829
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo...	ORPHA:75565
Mucopolysaccharidosis Type 3	Cardiomegaly, Avascular necrosis of the capital femoral epiphysis, Splenomegaly, Hydrocephalus, G...	ORPHA:581
Fetal Akinesia Deformation Sequence 1	Hip contracture, Ulnar deviation of the hand, Rocker bottom foot, Camptodactyly of finger, Crypto...	OMIM:208150
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Metatarsus adductus, Small hand, Genu valgum, Short foot, Lateral ventricle dilatation, Normal pr...	ORPHA:300570
Craniopharyngioma	Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Hydr...	ORPHA:54595
Fraser Syndrome 1	Encephalocele, Aplasia/Hypoplasia of the thumb, Hypospadias, Cryptorchidism, Myelomeningocele, Ap...	OMIM:219000
Distal 22Q11.2 Microduplication Syndrome	Toe syndactyly, Ventricular septal defect, Camptodactyly of finger, Tapered finger, Cryptorchidis...	ORPHA:261337
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Hydrocephalus, Dandy-Walker malformation, Ventriculomegaly, Adducted thumb	OMIM:614643
Neurofibromatosis, Type I	Spina bifida, Aqueductal stenosis, Hydrocephalus, Tibial pseudarthrosis, Genu valgum, Pheochromoc...	OMIM:162200
Brucellosis	Pericarditis, Lung abscess, Transient ischemic attack, Pneumonia, Bronchitis, Myocarditis, Pulmon...	ORPHA:1304
Cole-Carpenter Syndrome 1	Communicating hydrocephalus, Hydrocephalus	OMIM:112240
Proteus Syndrome	Hallux valgus, Finger syndactyly, Thymus hyperplasia, Macrodactyly, Testicular neoplasm, Metatars...	ORPHA:744
Zygomycosis	Gastrointestinal hemorrhage, Pericarditis, Sinusitis, Epistaxis, Hematemesis, Myocarditis, Atelec...	ORPHA:73263
Kikuchi-Fujimoto Disease	Myocarditis, Vasculitis, Abnormal pulmonary interstitial morphology, Vasculitis in the skin, Pleu...	ORPHA:50918
Raine Syndrome	Bowing of the long bones, Micromelia, Hydrocephalus, Neonatal death, Long hallux, Brachydactyly	OMIM:259775
Peters Plus Syndrome	Toe syndactyly, Hypospadias, Rhizomelia, Micromelia, Cryptorchidism, Short toe, Bicuspid pulmonar...	ORPHA:709
Chronic Visceral Acid Sphingomyelinase Deficiency	Abnormal bleeding, Respiratory failure requiring assisted ventilation, Progressive pulmonary func...	ORPHA:77293
Mycophenolate Mofetil Embryopathy	Hydrocephalus, Ventricular septal defect, Foot polydactyly, Short palm	ORPHA:268249
Tetrasomy 9P	Absent gallbladder, Pericarditis, Hypoplastic scapulae, Dextrocardia, Cryptorchidism, Hydrocephal...	ORPHA:3310
Fontaine Progeroid Syndrome	Atrial septal defect, Syndactyly, Small scrotum, Absent nipple, Bicuspid aortic valve, Cryptorchi...	OMIM:612289
Kabuki Syndrome 1	Hemolytic anemia, Prominent fingertip pads, Congenital hip dislocation, Ventricular septal defect...	OMIM:147920
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Cardiomegaly, Hydrocephalus, Cardiomyopathy, Abnormal myocardium morphology, Ventriculomegaly	ORPHA:228308
Thakker-Donnai Syndrome	Communicating hydrocephalus, Ventricular septal defect, Rectovaginal fistula, Transposition of th...	ORPHA:1780
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Hydrocephalus, Neutropenia, Thrombocytopenia, Megaloblastic anemia	OMIM:277400
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	HbH hemoglobin	ORPHA:423479
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Hydrocephalus	OMIM:615249
Glutaric Acidemia I	Hydrocephalus, Lateral ventricle dilatation	OMIM:231670
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Ventriculomegaly, Meningoencephalocele, Cryptorchidism, Hydrocephalus, H...	OMIM:236670
Microphthalmia With Linear Skin Defects Syndrome	Abnormal penis morphology, Hypospadias, Epispadias, Male pseudohermaphroditism, Dilated cardiomyo...	ORPHA:2556
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Megaloblastic anemia, Hydrocephalus, Dilated cardiomyopathy, Abnormal heart morphology, Neutropen...	ORPHA:79282
Glycogen Storage Disease Of Heart, Lethal Congenital	Cardiomegaly, Pericardial effusion, Hydrocephalus, Increased myocardial glycogen content, Biventr...	OMIM:261740
Chromosome 1P36 Deletion Syndrome, Distal	Bicuspid aortic valve, Clinodactyly of the 5th finger, Atrial septal defect, Patent foramen ovale...	OMIM:607872
Tenorio Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:616260
Plasminogen Deficiency, Type I	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:217090
Wiedemann-Rautenstrauch Syndrome	Long toe, Short humerus, Short femur, Hypospadias, Secundum atrial septal defect, Cryptorchidism,...	OMIM:264090
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Slender long bone, Hydrocephalus	OMIM:618590
Developmental And Epileptic Encephalopathy 49	Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation	OMIM:617281
Biliary, Renal, Neurologic, And Skeletal Syndrome	Anterior pituitary hypoplasia, Secundum atrial septal defect, Aqueductal stenosis, Primum atrial ...	OMIM:619534
Autoimmune Polyendocrinopathy Type 4	Abnormal pulmonary interstitial morphology	ORPHA:227990
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hip contracture, Bilateral cryptorchidism, Hydrocephalus, Hypogonadism, Narrow iliac wing, Anemia	ORPHA:3042
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Anencephal...	OMIM:615287
Cryptococcosis	Respiratory distress, Pneumonia, Nodular pattern on pulmonary HRCT, Dyspnea, Cough, Pleural effusion	ORPHA:1546
Lethal Omphalocele-Cleft Palate Syndrome	Hydrocephalus, Bifid uterus	ORPHA:2736
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Leukocytosis, Hydrocephalus, Genu valgum, Hypoplasia of the ovary, Micropenis, Decreased testicul...	OMIM:619321
Cutis Laxa, Autosomal Recessive, Type Ic	Atelectasis, Recurrent pneumonia, Pulmonary hypoplasia, Tracheomalacia, Emphysema, Peripheral pul...	OMIM:613177
Autoimmune Polyendocrinopathy Type 3	Abnormal pulmonary interstitial morphology	ORPHA:227982
Loeys-Dietz Syndrome 1	Arachnodactyly, Bicuspid aortic valve, Postaxial hand polydactyly, Bicuspid pulmonary valve, Hydr...	OMIM:609192
Relapsing Polychondritis	Pericarditis, Dyspnea, Myocarditis, Atelectasis, Large vessel vasculitis, Cough, Abnormal pattern...	ORPHA:728
Chilton-Okur-Chung Neurodevelopmental Syndrome	Communicating hydrocephalus, Short fourth metatarsal, Short fifth metatarsal, Hypospadias, Anteri...	OMIM:619841
Loeys-Dietz Syndrome 2	Syndactyly, Bicuspid aortic valve, Arachnodactyly, Protrusio acetabuli, Postaxial polydactyly, Hy...	OMIM:610168
Exstrophy-Epispadias Complex	Bifid scrotum, Spina bifida, Bifid uterus, Epispadias, Cryptorchidism, Cystocele, Penoscrotal tra...	ORPHA:322
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Hydrocephalus, Ventriculomegaly	OMIM:616538
Granulomatous Disease, Chronic, X-Linked	Atelectasis, Pleural effusion, Recurrent pneumonia, Cough	OMIM:306400
Cerebral Visual Impairment	Hydrocephalus	ORPHA:447788
Chronic Graft Versus Host Disease	Dyspnea, Wheezing, Pneumothorax, Bronchiectasis, Bronchiolitis obliterans, Cough, Pleural effusio...	ORPHA:99921
Sacral Defect With Anterior Meningocele	Myeloschisis, Myelomeningocele, Hydrocephalus, Meningocele, Dermal sinus tract, Bilateral talipes...	OMIM:600145
Large Congenital Melanocytic Nevus	Hydrocephalus	ORPHA:626
Arachnoid Cyst	Encephalocele, Enlarged fossa interpeduncularis, Hydrocephalus, Holoprosencephaly	ORPHA:2356
Dural Sinus Malformation	Myelopathy, Hydrocephalus	ORPHA:97339
Cockayne Syndrome A	Hip contracture, Splenomegaly, Cryptorchidism, Ivory epiphyses of the phalanges of the hand, Squa...	OMIM:216400
Holoprosencephaly 7	Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, Occipital me...	OMIM:610828
Alpha-Mannosidosis, Infantile Form	Communicating hydrocephalus, Pancytopenia, Genu valgum, Hepatosplenomegaly, Cortical thickening o...	ORPHA:309282
Histiocytoid Cardiomyopathy	Ventricular septal defect, Cardiomegaly, Hydrocephalus, Polycystic ovaries	ORPHA:137675
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Hydrocephalus, Dilated third ventricle, Ventricular septal defect, Lateral ventricle dilatation	OMIM:619575
Neurofibromatosis Type 1	Precocious puberty, Cryptorchidism, Hydrocephalus, Chronic myelogenous leukemia, Genu valgum, Sle...	ORPHA:636
Rabin-Pappas Syndrome	Hydrocephalus	OMIM:620155
Overhydrated Hereditary Stomatocytosis	Pulmonary embolism	OMIM:185000
Carnitine Palmitoyltransferase Ii Deficiency	Cardiomyopathy, Hydrocephalus	ORPHA:157
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Encephalocele, Hydrocephalus, Ventriculomegaly	OMIM:613150
Mucopolysaccharidosis Type 2	Communicating hydrocephalus, Abnormal heart valve morphology, Abnormal pulmonary valve morphology...	ORPHA:580
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Ventricular septal defect, Abnormal tibia morphology, Hydrocephalus, Abnormal heart morphology, M...	ORPHA:363700
Costello Syndrome	Hyperextensibility of the finger joints, Ventricular septal defect, Limited elbow movement, Hydro...	OMIM:218040
Alexander Disease	Precocious puberty, Hydrocephalus, Aqueductal stenosis	ORPHA:58
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Hydrocephalus, Ventriculomegaly	ORPHA:395
Ciliary Dyskinesia, Primary, 43	Noncommunicating hydrocephalus	OMIM:618699
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Bifid scrotum, Bicuspid aortic valve, Hypospadias, Ventricular septal defect, Single transverse p...	OMIM:619475
Isolated Posterior Meningocele	Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele	ORPHA:268810
Meningioma	Enlarged pituitary gland, Hypogonadotropic hypogonadism, Reduced circulating prolactin concentrat...	ORPHA:2495
Wiedemann-Rautenstrauch Syndrome	Long toe, Short humerus, Short femur, Hypospadias, Hypogonadotropic hypogonadism, Decreased respo...	ORPHA:3455
Glutaryl-Coa Dehydrogenase Deficiency	Communicating hydrocephalus, Ventriculomegaly, Subependymal nodules	ORPHA:25
Cockayne Syndrome B	Splenomegaly, Cryptorchidism, Ivory epiphyses of the phalanges of the hand, Square pelvis bone, N...	OMIM:133540
Knobloch Syndrome	Occipital encephalocele, Hydrocephalus, Dextrocardia	ORPHA:1571
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Communicating hydrocephalus	ORPHA:1064
Coffin-Siris Syndrome 12	Hypospadias, Hip subluxation, Cryptorchidism, Short thumb, Slender finger, Noncommunicating hydro...	OMIM:619325
Capillary Malformation-Arteriovenous Malformation	Hydrocephalus, Abnormal heart morphology	ORPHA:137667
Semilobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Hydrocephalus, Hip dislocation, Abnormal h...	ORPHA:220386
Alobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Hydrocephalus, Hip dislocation, Abnormal h...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Decreased response to growth hormone stimulation test, Hydrocephalus, Hip dislocation, Abnormal h...	ORPHA:93926
Lobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Hydrocephalus, Hip dislocation, Abnormal h...	ORPHA:93924
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Communicating hydrocephalus, Large hands, Arachnodactyly, Ventriculomegaly	OMIM:617011
Medulloblastoma	Hydrocephalus	ORPHA:616
Tuberous Sclerosis Complex	Pituitary adenoma, Parathyroid hyperplasia, Noncommunicating hydrocephalus, Cardiac rhabdomyoma, ...	ORPHA:805
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Hydrocephalus	ORPHA:220295
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Communicating hydrocephalus, Micropenis, Arachnodactyly, Ventriculomegaly	ORPHA:457359
Sturge-Weber Syndrome	Hydrocephalus	ORPHA:3205
Split Cord Malformation	Hypospadias, Cervical spina bifida, Talipes cavus equinovarus, Lipomyelomeningocele, Myelomeningo...	ORPHA:573278
Multiple Osteochondromas	Pneumothorax, Hemothorax	ORPHA:321
Oculocerebrorenal Syndrome Of Lowe	Atelectasis, Recurrent respiratory infections, Respiratory insufficiency	ORPHA:534
Chand Syndrome	Atelectasis	ORPHA:1401
Full Nf2-Related Schwannomatosis	Myelopathy, Hydrocephalus	ORPHA:637
Digeorge Syndrome	Atelectasis, Asthma, Patent ductus arteriosus, Chronic pulmonary obstruction, Recurrent pneumonia...	OMIM:188400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Hydrocephalus, Ventriculomegaly	OMIM:253280
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hemolytic anemia, Hydrocephalus	OMIM:175780
Craniofacial Microsomia 1	Occipital encephalocele, Ventricular septal defect, Partial duplication of thumb phalanx, Hydroce...	OMIM:164210
Familial Isolated Dilated Cardiomyopathy	Dilated cardiomyopathy, Abnormality of neutrophils, Palmoplantar keratoderma	ORPHA:154
Cardiomyopathy, Dilated, 1V	Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul...	OMIM:613697
Alzheimer Disease 4		OMIM:606889
Early-Onset Autosomal Dominant Alzheimer Disease		ORPHA:1020

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 Psen2

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 Psen2.

No publications found that use IMPC mice or data for Psen2.

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MGI Allele	Allele Type	Produced
Psen2^{em1(IMPC)Ccpcz}	Exon Deletion	Mice
Psen2^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Psen2 MGI:109284

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

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X-ray

Human diseases caused by Psen2 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data