Gene Summary

presenilin 2
Ad4h,  PS2,  ALG-3,  PS-2

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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

Phenotype System Allele Zyg Sex Life Stage P Value
increased mean corpuscular hemoglobin Psen2em1(IMPC)Ccpcz HOM   Early adult 1.10×10-05
abnormal thymus morphology Psen2em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal brain morphology Psen2em1(IMPC)Ccpcz HOM Early adult 0.00
hydrocephaly Psen2em1(IMPC)Ccpcz HOM Early adult 0.00
enlarged thymus Psen2em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal heart morphology Psen2em1(IMPC)Ccpcz HOM Early adult 0.00
preweaning lethality, incomplete penetrance Psen2em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal digit morphology Psen2em1(IMPC)Ccpcz HOM Early adult 7.95×10-05
abnormal seminal vesicle morphology Psen2em1(IMPC)Ccpcz HOM Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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


XRay Images Whole Body Lateral Orientation

18 Images


XRay Images Forepaw

16 Images


XRay Images Hind Leg and Hip

32 Images


XRay Images Whole Body Dorso Ventral

34 Images


XRay Images Skull Dorso Ventral Orientation

16 Images


XRay Images Skull Lateral Orientation

16 Images

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.

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

Disease Similarity of
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
Early-Onset Autosomal Dominant Alzheimer Disease

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

Disease Similarity of
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
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
Bronchial breath sound, Sinusitis, Pericarditis, Pneumonia, Bronchitis, Abnormal respiratory syst... ORPHA:449280
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
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
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
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
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
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
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
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
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
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
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
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
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
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
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
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
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
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
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
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