Gene Summary

Name:
presenilin 2
Synonyms:
Ad4h,  PS2,  ALG-3,  PS-2

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal seminal vesicle morphology Psen2em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal heart morphology Psen2em1(IMPC)Ccpcz HOM Early adult 0.00
increased circulating creatinine level Psen2em1(IMPC)Ccpcz HOM Early adult 7.12×10-08
enlarged thymus Psen2em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal thymus morphology Psen2em1(IMPC)Ccpcz HOM Early adult 0.00
increased mean corpuscular hemoglobin Psen2em1(IMPC)Ccpcz HOM   Early adult 5.16×10-05
hydrocephaly Psen2em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal brain morphology Psen2em1(IMPC)Ccpcz HOM Early adult 0.00
decreased circulating chloride level Psen2em1(IMPC)Ccpcz HOM Early adult 7.28×10-05
decreased circulating sodium level Psen2em1(IMPC)Ccpcz HOM Early adult 6.45×10-05

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

32 Images

X-ray

XRay Images Hind Leg and Hip

32 Images

X-ray

XRay Images Skull Lateral Orientation

16 Images

X-ray

XRay Images Whole Body Lateral Orientation

16 Images

X-ray

XRay Images Forepaw

16 Images

X-ray

XRay Images Skull Dorso Ventral 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
phenotypes
Matching phenotypes Source
Familial Isolated Dilated Cardiomyopathy
Abnormality of neutrophils, Dilated cardiomyopathy, Elevated circulating creatine kinase concentr... ORPHA:154
Cardiomyopathy, Dilated, 1V
Syncope, Dilated cardiomyopathy, Congestive heart failure 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 Similarity of
phenotypes
Matching phenotypes Source
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 3
Reduced forced expiratory volume in one second, Usual interstitial pneumonia, Reduced forced vita... OMIM:616373
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 4
Honeycomb lung, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Co... OMIM:616371
Interstitial Lung Disease 2
Elevated bronchoalveolar lavage fluid neutrophil proportion, Usual interstitial pneumonia, Cough,... OMIM:178500
Idiopathic Pulmonary Fibrosis
Pulmonary insufficiency, Honeycomb lung, Reticular pattern on pulmonary HRCT, Crackles, Cough, Br... ORPHA:2032
Cystic Hamartoma Of Lung And Kidney
Respiratory insufficiency, Hypertension, Recurrent respiratory infections, Pulmonary fibrosis ORPHA:2111
Pulmonary Hemosiderosis
Respiratory insufficiency, Recurrent intrapulmonary hemorrhage, Pulmonary fibrosis OMIM:178550
Emphysema, Hereditary Pulmonary
Emphysema, Chronic pulmonary obstruction, Chronic bronchitis OMIM:130700
Chronic Beryllium Disease
Abnormal respiratory system physiology, Hypersensitivity pneumonitis, Reticulonodular pattern on ... ORPHA:133
Hypersensitivity Pneumonitis, Familial
Hypersensitivity pneumonitis OMIM:145300
Surfactant Metabolism Dysfunction, Pulmonary, 3
Hypoxemia, Tachypnea, Nodular pattern on pulmonary HRCT, Crazy paving pattern, Honeycomb lung, Co... OMIM:610921
Surfactant Metabolism Dysfunction, Pulmonary, 2
Hypoxemia, Tachypnea, Spontaneous pneumothorax, Recurrent pneumonia, Interstitial pneumonitis, Co... OMIM:610913
Interstitial Lung Disease 1
Restrictive ventilatory defect, Nonspecific interstitial pneumonia, Elevated bronchoalveolar lava... OMIM:619611
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Decreased mean corpuscular hemoglobin concentration, Sickled ... ORPHA:90039
Asbestos Intoxication
Hypoxemia, Late inspiratory crackles, Abnormal pulmonary interstitial morphology, Wheezing, Pulmo... ORPHA:2302
Sarcoidosis, Susceptibility To, 2
Emphysema, Restrictive ventilatory defect, Hypoxemia, Elevated bronchoalveolar lavage fluid lymph... OMIM:612387
Pulmonary Nodular Lymphoid Hyperplasia
Nodular pattern on pulmonary HRCT, Cough, Dyspnea ORPHA:60026
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia, Increased circulating ferritin concentration ORPHA:231249
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Restrictive ventilatory defect, Tachypnea, Pulmonary hemorrhage, Cough, Dyspnea, Decreased DLCO, ... OMIM:616414
Pulmonary Venoocclusive Disease 1, Autosomal Dominant
Elevated jugular venous pressure, Abnormally loud pulmonic component of the second heart sound, P... OMIM:265450
Antithrombin Iii Deficiency
Pulmonary embolism, Arterial occlusion OMIM:613118
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Nonproductive cough, Reduced FEV1/FVC ratio, Hypoxemia, Pneumonia, Airway obstruction, Reduced fo... ORPHA:1303
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Abnormal salivary gland morphology, Hyponatremia ORPHA:3225
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Restrictive ventilatory defect, Portal hypertension, Abnormal breath sound, Crackles, Abnormal pl... ORPHA:210136
Acute Interstitial Pneumonia
Nonproductive cough, Reticulonodular pattern on pulmonary HRCT, Hypoxemia, Crackles, Tachypnea, R... ORPHA:79126
Hermansky-Pudlak Syndrome 4
Bruising susceptibility, Restrictive ventilatory defect, Menorrhagia, Pulmonary fibrosis, Abnorma... OMIM:614073
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Emphysema, Nonproductive cough, Hypersensitivity pneumonitis, Restrictive ventilatory defect, Red... ORPHA:79127
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1
Reticular pattern on pulmonary HRCT, Crackles, Usual interstitial pneumonia, Cough, Dyspnea, Obst... OMIM:614742
Thrombophilia, X-Linked, Due To Factor Viii Defect
Pulmonary embolism OMIM:301071
Limited Cutaneous Systemic Sclerosis
Pulmonary arterial hypertension, Telangiectasia of the skin, Mucosal telangiectasiae, Pulmonary f... ORPHA:220402
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 5
Pulmonary fibrosis OMIM:618674
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Central diabetes insipidus, Hyponatremia, Hypopituitarism, Increased circulating prolactin concen... ORPHA:91354
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level OMIM:300971
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Cryptorchidism, Hyperkalemia, Precocious puberty, Hyponatremia OMIM:614736
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Intraalveolar phospholipid accumulation, Interstitial pneumonitis, Tachypnea, Pulmonary arterial ... ORPHA:217563
Spinocerebellar Ataxia, Autosomal Recessive 23
Neutropenia, Hyponatremia OMIM:616949
Beemer Lethal Malformation Syndrome
Ambiguous genitalia, Thrombocytopenia, Hydrocephalus OMIM:209970
Interstitial Pneumonitis, Desquamative, Familial
Recurrent upper respiratory tract infections, Type II pneumocyte hypertrophy, Respiratory failure... OMIM:263000
Thrombophilia Due To Thrombin Defect
Pulmonary embolism OMIM:188050
Congenital Lobar Emphysema
Emphysema, Respiratory distress ORPHA:1928
Autosomal Recessive Spastic Paraplegia Type 70
Abnormal pulmonary interstitial morphology ORPHA:401835
Idiopathic Pulmonary Hemosiderosis
Restrictive ventilatory defect, Diffuse alveolar hemorrhage, Reticular pattern on pulmonary HRCT,... ORPHA:99931
Fanconi Renotubular Syndrome 5
Emphysema, Lung adenocarcinoma, Hypertension, Pulmonary fibrosis, Decreased DLCO OMIM:618913
Diffuse Alveolar Hemorrhage
Respiratory failure requiring assisted ventilation, Restrictive ventilatory defect, Increased DLC... ORPHA:90060
Riddle Syndrome
Pulmonary fibrosis OMIM:611943
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hypoproteinemia, Leukopenia, Hyponatremia, Increase... OMIM:267700
Posttransplant Acute Limbic Encephalitis
Hyponatremia, Increased CSF protein, CSF lymphocytic pleiocytosis, CSF polymorphonuclear pleocyto... ORPHA:163921
Diarrhea 1, Secretory Chloride, Congenital
Hypokalemia, Hyponatremia, Hypochloremia OMIM:214700
Heparin-Induced Thrombocytopenia
Cerebral ischemia, Pulmonary embolism, Myocardial infarction, Abnormal onset of bleeding ORPHA:3325
Thrombophilia Due To Protein C Deficiency, Autosomal Dominant
Pulmonary embolism OMIM:176860
Herpes Simplex Virus Encephalitis
Hyponatremia, Leukocytosis, Increased CSF protein, Hypoglycorrhachia, Neutrophilia, Elevated circ... ORPHA:1930
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Restrictive ventilatory defect, Elevated bronchoalveolar lavage fluid neutrophil proportion, Hypo... OMIM:610978
Lymphoid Interstitial Pneumonia
Restrictive ventilatory defect, Hypoxemia, Crackles, Subpleural interstitial thickening, Cough, R... ORPHA:79128
Mirage Syndrome
Hypoplastic spleen, Leukopenia, Hyponatremia, Cryptorchidism, Hyperkalemia, Shawl scrotum, Anemia... OMIM:617053
Sickle Cell Anemia
Microcytic anemia, Hypochromic anemia, Reticulocytosis, Leukocytosis, Elevated circulating creati... ORPHA:232
Retinal Dystrophy With Or Without Extraocular Anomalies
Pulmonary fibrosis OMIM:617175
Alpha-1-Antitrypsin Deficiency
Chronic bronchitis, Dyspnea, Chronic pulmonary obstruction, Panacinar emphysema, Wheezing OMIM:613490
Surfactant Metabolism Dysfunction, Pulmonary, 5
Intraalveolar phospholipid accumulation, Dyspnea, Exertional dyspnea, Interlobular septal thicken... OMIM:614370
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Bronchiolitis, Right bundle branch block, Atelectasis, Exertional dyspnea, Pulmonary fibrosis ORPHA:254361
Antisynthetase Syndrome
Aortic regurgitation, Myocarditis, Cough, Telangiectasia of the skin, Pulmonary arterial hyperten... ORPHA:81
Scedosporiosis
Abnormal respiratory system physiology, Sinusitis, Pneumonia, Bronchial breath sound, Respiratory... ORPHA:449280
Aspergillosis
Sinusitis, Hypersensitivity pneumonitis, Pneumonia, Abnormality on pulmonary function testing, As... ORPHA:1163
Surfactant Metabolism Dysfunction, Pulmonary, 1
Absent bronchoalveolar dimeric surfactant-protein B, Intraalveolar phospholipid accumulation, Res... OMIM:265120
Hydrocephalus, Congenital, 1
Ventriculomegaly, Hydrocephalus OMIM:236600
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Ciliary Dyskinesia, Primary, 32
Immotile cilia, Ciliary dyskinesia, Bronchiectasis, Recurrent respiratory infections, Neonatal re... OMIM:616481
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Goiter, Leukocytosis, Thrombocytopenia, Hyponatremia ORPHA:83601
Polymyositis
Dilated cardiomyopathy, Gastrointestinal hemorrhage, Arrhythmia, Congestive heart failure, Abnorm... ORPHA:732
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Decreased circulating renin level, Decreased serum creatinine OMIM:300539
Hyperchlorhidrosis, Isolated
Hyperkalemia, Hyponatremia OMIM:143860
Bronchopulmonary Dysplasia
Abnormal respiratory system physiology, Emphysema, Pulmonary sequestration, Respiratory failure r... ORPHA:70589
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary capillary hemangiomatosis, Cough, Dyspnea, Pulmonary arterial hypertension, Pulmonary v... OMIM:234810
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Leukopenia, Hyponatremia, Hyperuricemia, Anemia, Hypomagnesemia, Thrombocytopenia OMIM:613845
Congenital Amegakaryocytic Thrombocytopenia
Abnormal hemoglobin, Anemia, Thrombocytopenia, Abnormal cardiac septum morphology ORPHA:3319
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Idiopathic Bronchiectasis
Emphysema, Abnormal respiratory system physiology, Reduced FEV1/FVC ratio, Crackles, Myocardial i... ORPHA:60033
Hemophagocytic Lymphohistiocytosis, Familial, 2
Pancytopenia, Increased circulating ferritin concentration, Hypoproteinemia, Leukopenia, Hepatosp... OMIM:603553
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hypokalemia, Hyponatremia, Hypochloremia OMIM:613090
Niemann-Pick Disease, Type B
Recurrent respiratory infections, Decreased DLCO, Abnormal pulmonary interstitial morphology, Dys... OMIM:607616
Braddock Syndrome
Neonatal respiratory distress, Pulmonary arterial hypertension, Pulmonary fibrosis ORPHA:52047
Alpha-2-Plasmin Inhibitor Deficiency
Persistent bleeding after trauma, Bruising susceptibility, Joint hemorrhage, Hemothorax OMIM:262850
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia, HbH hemoglobin OMIM:613978
Ciliary Dyskinesia, Primary, 29
Decreased nasal nitric oxide, Ciliary dyskinesia, Atelectasis, Recurrent respiratory infections, ... OMIM:615872
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Abnormal labia majora morphology, Adrenocorticotropic hormone excess, Hyponatremia, Increased cir... ORPHA:90791
Beta-Thalassemia, Dominant Inclusion Body Type
Microcytic anemia, Erythrocyte inclusion bodies, Decreased mean corpuscular hemoglobin concentrat... OMIM:603902
Acute Lung Injury
Pneumonia, Diffuse alveolar hemorrhage, Hypoxemia, Respiratory failure, Tachypnea, Dyspnea, Respi... ORPHA:178320
Pulmonary Edema Of Mountaineers, Susceptibility To
Elevated pulmonary artery pressure, Pulmonary edema OMIM:178400
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Ventriculomegaly, Hydrocephalus OMIM:615938
Allergic Bronchopulmonary Aspergillosis
Emphysema, Asthma, Cough, Bronchiectasis, Pulmonary arterial hypertension, Respiratory insufficiency ORPHA:1164
Hydrocephalus With Cerebellar Agenesis
Hydrocephalus OMIM:307010
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia, Hydrocephalus OMIM:166990
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Hermansky-Pudlak Syndrome 1
Hematochezia, Bruising susceptibility, Restrictive ventilatory defect, Ecchymosis, Gingival bleed... OMIM:203300
Factor V Excess With Spontaneous Thrombosis
Pulmonary embolism OMIM:134400
Edinburgh Malformation Syndrome
Neonatal hyperbilirubinemia, Hydrocephalus OMIM:129850
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hypokalemia, Hyponatremia, Hypochloremia OMIM:602522
Alexander Disease
Increased CSF protein, Hydrocephalus OMIM:203450
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Pulmonary fibrosis OMIM:615704
Porphyria Due To Ala Dehydratase Deficiency
Increased erythrocyte protoporphyrin concentration, Hyponatremia, Myeloproliferative disorder, Ab... ORPHA:100924
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Anemia, Splenomegaly, Thrombocytopenia ORPHA:231393
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly ORPHA:46532
Pulmonary Alveolar Microlithiasis
Nonproductive cough, Restrictive ventilatory defect, Hypoxemia, Pleural thickening, Oxygen desatu... ORPHA:60025
Ciliary Dyskinesia, Primary, 23
Recurrent pneumonia, Respiratory insufficiency due to defective ciliary clearance, Chronic rhinit... OMIM:615451
Ciliary Dyskinesia, Primary, 21
Recurrent pneumonia, Decreased nasal nitric oxide, Ciliary dyskinesia, Atelectasis, Bronchiectasi... OMIM:615294
Adrenal Hypoplasia, Congenital
Hypogonadotropic hypogonadism, Hyponatremia, Cryptorchidism, Azoospermia, Oligospermia, Precociou... OMIM:300200
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Wolcott-Rallison Syndrome
Hyponatremia, Atrial septal defect, Double outlet right ventricle, Neutropenia, Iron deficiency a... ORPHA:1667
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Pituitary Apoplexy
Central diabetes insipidus, Hyponatremia, Hypopituitarism, Hypergonadotropic hypogonadism, Increa... ORPHA:95613
Anemia, Congenital Dyserythropoietic, Type Iv
Anisocytosis, Anemia, Increased RBC distribution width, Hyperbilirubinemia, Reduced haptoglobin l... OMIM:613673
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Whipple Disease
Hyponatremia, Splenomegaly, Myocarditis, Anemia, Hydrocephalus, Mediastinal lymphadenopathy, Peri... ORPHA:3452
Beta-Thalassemia
Cholelithiasis, Microcytic anemia, Hypogonadotropic hypogonadism, Hypertrophic cardiomyopathy, Sp... ORPHA:848
Immunodeficiency 60 And Autoimmunity
Pulmonary fibrosis, Recurrent sinopulmonary infections, Bronchiectasis OMIM:618394
Corticosterone Methyloxidase Type Ii Deficiency
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:610600
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 2
Pulmonary fibrosis OMIM:614743
Corticosterone Methyloxidase Type I Deficiency
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:203400
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Aplasia of the uterus, Hypogonadotropic hypogonadism, Precocious puberty in females, Premature pu... ORPHA:90794
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Hypoadrenocorticism, Familial
Hyperkalemia, Hyponatremia OMIM:240200
Mixed Connective Tissue Disease
Pleuritis, Gastrointestinal hemorrhage, Purpura, Myocarditis, Dyspnea, Pulmonary arterial hyperte... ORPHA:809
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hyponatremia OMIM:618426
Cystic Fibrosis
Recurrent respiratory infections, Pulmonary fibrosis ORPHA:586
Congenital Alpha2-Antiplasmin Deficiency
Persistent bleeding after trauma, Bruising susceptibility, Abnormal umbilical stump bleeding, Gin... ORPHA:79
Alg8-Cdg
Anemia, Thrombocytopenia, Ventriculomegaly, Hyponatremia ORPHA:79325
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Ventriculomegaly, Hydrocephalus OMIM:615937
Legionnaires Disease
Hyponatremia, Bone marrow hypocellularity, Endocarditis, Splenomegaly, Myocarditis, Lymphadenopat... ORPHA:549
Pineocytoma
Increased CSF protein, Hydrocephalus ORPHA:251912
Pseudohypoaldosteronism, Type Iib
Hyperkalemia, Hyperchloremia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperkalemia, Hyperchloremia OMIM:614495
Diffuse Cutaneous Systemic Sclerosis
Congestive heart failure, Dyspnea, Telangiectasia of the skin, Pulmonary arterial hypertension, H... ORPHA:220393
Snakebite Envenomation
Hypopituitarism, Thrombocytopenia, Hyponatremia ORPHA:449285
Hemoglobin E Disease
Splenomegaly, Increased red blood cell count, Abnormal hemoglobin, Anemia of inadequate productio... ORPHA:2133
Colchicine Poisoning
Hypokalemia, Leukocytosis, Hyponatremia, Abnormal blood ion concentration, Hypocalcemia, Myocardi... ORPHA:31824
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Recurrent pneumonia, Chronic bronchitis, Bronchiectasis, Recurrent sinusitis, Recurrent respirato... OMIM:618986
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant
Pulmonary embolism, Purpura OMIM:612336
Hereditary Pulmonary Alveolar Proteinosis
Respiratory failure requiring assisted ventilation, Restrictive ventilatory defect, Hypoxemia, Cr... ORPHA:264675
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Pulmonary embolism, Purpura, Vitreous hemorrhage OMIM:612304
Necrotizing Enterocolitis
Leukocytosis, Hyponatremia, Neutropenia, Abnormal heart morphology, Thrombocytopenia ORPHA:391673
Ciliary Dyskinesia, Primary, 27
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Decreased nasal... OMIM:615504
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyponatremia, Hyperkalemia, Abnormality of female external genitalia, Male pseudohermaphroditism,... ORPHA:90790
1Q21.1 Microduplication Syndrome
Cryptorchidism, Tetralogy of Fallot, Hypospadias, Hydrocephalus ORPHA:250994
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Cryptorchidism, Hypocalcemia, Hypertriglyceridemia, Hypoalbuminemia, Hypomagnesemia... OMIM:618183
Central Diabetes Insipidus
Hyponatremia ORPHA:178029
Cardiomyopathy, Dilated, 2C
Pulmonary arterial hypertension, Dilated cardiomyopathy, Reduced ejection fraction OMIM:618189
Bartter Syndrome, Type 1, Antenatal
Hypokalemia, Hypochloremia, Increased circulating renin level, Hypercalcemia, Increased serum pro... OMIM:601678
Late-Onset Isolated Acth Deficiency
Eosinophilia, Hyponatremia, Normocytic anemia, Hypercalcemia, Adrenocorticotropic hormone deficie... ORPHA:199299
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Generalized Pseudohypoaldosteronism Type 1
Cholelithiasis, Hyperkalemia, Hyponatremia, Increased circulating renin level ORPHA:171876
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:177735
Familial Glucocorticoid Deficiency
Hyponatremia, Testicular adrenal rest tumor, Cryptorchidism, Azoospermia, Hyperkalemia, Hypertrop... ORPHA:361
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Aplasia of the uterus, Adrenocorticotropic hormone excess, Hyponatremia, Increased circulating re... ORPHA:168558
Late-Onset Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Increased circulating renin level ORPHA:556037
Panhypophysitis
Central diabetes insipidus, Gonadotropin deficiency, Abnormal size of pituitary gland, Abnormalit... ORPHA:95513
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Aplasia of the uterus, Adrenocorticotropic hormone excess, Hyponatremia, Increased circulating re... ORPHA:289548
Pseudohypoaldosteronism, Type Iic
Hyperkalemia, Hyperchloremia OMIM:614492
Pseudohypoaldosteronism, Type Iie
Hyperkalemia, Hyperchloremia OMIM:614496
Felty Syndrome
Sinusitis, Recurrent pneumonia, Rhinitis, Recurrent respiratory infections, Pulmonary fibrosis, P... ORPHA:47612
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hyperkalemia, Hyponatremia OMIM:264350
Adenohypophysitis
Gonadotropin deficiency, Abnormal size of pituitary gland, Hyponatremia, Panhypopituitarism, Incr... ORPHA:95512
Typhoid
Cardiac arrest, Gastrointestinal hemorrhage, Arrhythmia, Abnormal pulmonary interstitial morpholo... ORPHA:99745
Preeclampsia
Thrombocytopenia, Elevated circulating creatinine concentration, Polycystic ovaries ORPHA:275555
Alpha-Thalassemia
Cholelithiasis, Microcytic anemia, Splenomegaly, Anemia, Hemolytic anemia, Abnormal hemoglobin, H... ORPHA:846
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Respiratory insufficiency, Intraalveolar phospholipid accumulation, Recurrent respiratory infections OMIM:618042
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Dandy-Walker malformation, Hydrocephalus ORPHA:1538
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Early-Onset Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Increased circulating renin level ORPHA:556030
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Schistocytosis, Hypokalemia, Leukocytosis, Elevated circulating creatinine concentration, Hyponat... ORPHA:90038
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Delta-Beta-Thalassemia
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Pulmonary Capillary Hemangiomatosis
Pulmonary capillary hemangiomatosis, Diffuse alveolar hemorrhage, Hypoxemia, Abnormal pulmonary v... ORPHA:199241
Interstitial Lung And Liver Disease
Hypoxemia, Intraalveolar phospholipid accumulation, Cough, Dyspnea, Pulmonary fibrosis, Respirato... OMIM:615486
Hyperkalemic Periodic Paralysis
Elevated circulating creatine kinase concentration, Hyperkalemia, Hypokalemia, Hyponatremia ORPHA:682
Chitayat Syndrome
Recurrent respiratory infections, Abnormal pulmonary interstitial morphology, Tracheomalacia, Res... OMIM:617180
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Myocardial infarction, Pulmonary fibrosis ORPHA:457240
Hereditary Mucoepithelial Dysplasia
Recurrent respiratory infections, Pulmonary fibrosis ORPHA:1839
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ventriculomegaly, Hydrocephalus OMIM:618709
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Cerebral hemorrhage, Pulmonary embolism, Purpura OMIM:614514
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Elevated circulating creatine kinase concentration, Hydrocephalus, Ventriculomegaly, Dandy-Walker... OMIM:613154
Pulmonary Hypertension, Primary, 3
Pulmonary arterial hypertension, Elevated pulmonary artery pressure, Increased pulmonary vascular... OMIM:615343
Surfactant Metabolism Dysfunction, Pulmonary, 4
Restrictive ventilatory defect, Reduced forced expiratory volume in one second, Intraalveolar pho... OMIM:300770
Hereditary Coproporphyria
Hyponatremia, Abnormal circulating porphyrin concentration ORPHA:79273
Immunodeficiency 13
Recurrent pneumonia, Recurrent upper respiratory tract infections, Bronchiolitis obliterans organ... OMIM:615518
Riddle Syndrome
Recurrent pneumonia, Restrictive ventilatory defect, Pneumonia, Respiratory failure, Conjunctival... ORPHA:420741
Hydrocephalus, Autosomal Dominant
Dandy-Walker malformation, Hydrocephalus OMIM:123155
Idiopathic Chronic Eosinophilic Pneumonia
Nonproductive cough, Hypersensitivity pneumonitis, Restrictive ventilatory defect, Hypoxemia, Ast... ORPHA:2902
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Anemia, Microangiop... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Anemia, Microangiop... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Anemia, Microangiop... OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Anemia, Microangiop... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Anemia, Microangiop... OMIM:612926
Hb Bart'S Hydrops Fetalis
Hydrocephalus, Splenomegaly, Anemia, Pericarditis, Abnormal hemoglobin ORPHA:163596
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia, Decreased serum creatinine ORPHA:54057
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macroorchidism, Hydrocephalus OMIM:300886
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Recurrent sinusitis, Recurrent upper respiratory tract infections, Abnormal pulmonary interstitia... OMIM:613101
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Cardiac arrest, Congestive heart failure, Pulmonary embolism, Pro... OMIM:613485
Shigellosis
Leukocytosis, Hyponatremia, Abnormal blood ion concentration, Urethritis, Myocarditis, Microangio... ORPHA:810
Chédiak-Higashi Syndrome
Pancytopenia, Increased circulating ferritin concentration, Hypoproteinemia, Hepatosplenomegaly, ... ORPHA:167
Wild Type Attr Amyloidosis
Arrhythmia, Congestive heart failure, Abnormal EKG, Hypertrophic cardiomyopathy, Myocardial infar... ORPHA:330001
Juvenile Dermatomyositis
Restrictive ventilatory defect, Gastrointestinal hemorrhage, Arrhythmia, Mucosal telangiectasiae,... ORPHA:93672
Holoprosencephaly 5
Central diabetes insipidus, Semilobar holoprosencephaly, Holoprosencephaly, Lobar holoprosencepha... OMIM:609637
Sting-Associated Vasculopathy, Infantile-Onset
Raynaud phenomenon, Tachypnea, Recurrent respiratory infections, Pulmonary fibrosis, Telangiectasia OMIM:615934
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Alg12-Cdg
Hyponatremia, Patent foramen ovale, Cryptorchidism, Micropenis, Biventricular hypertrophy, Muscul... ORPHA:79324
Scleroderma
Myocarditis, Dyspnea, Pulmonary arterial hypertension, Gastrointestinal telangiectasia, Transient... ORPHA:801
Bronchial Neuroendocrine Tumor
Nonproductive cough, Pneumonia, Asthma, Cardiogenic shock, Abnormal pulmonary interstitial morpho... ORPHA:97287
Neuroleptic Malignant Syndrome
Leukocytosis, Hyponatremia, Thrombocytosis, Hyperkalemia, Hypocalcemia, Hyperuricemia, Elevated c... ORPHA:94093
Bare Lymphocyte Syndrome, Type I
Emphysema, Bronchiolitis, Recurrent bronchitis, Bronchiectasis, Chronic sinusitis OMIM:604571
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Pulmonary fibrosis OMIM:611926
Tubulointerstitial Nephritis With Uveitis
Non-caseating epithelioid cell granulomatosis, Elevated circulating creatinine concentration OMIM:607665
Bartter Syndrome Type 4
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level, Hypomagnesemia ORPHA:89938
Total Anomalous Pulmonary Venous Return 1
Pulmonary arterial hypertension, Recurrent respiratory infections, Total anomalous pulmonary veno... OMIM:106700
Gaucher Disease, Type I
Abnormal pulmonary interstitial morphology, Dyspnea, Pulmonary arterial hypertension, Hypertensio... OMIM:230800
Chudley-Mccullough Syndrome
Ventriculomegaly, Hydrocephalus OMIM:604213
Sheehan Syndrome
Central diabetes insipidus, Gonadotropin deficiency, Abnormal size of pituitary gland, Hyponatrem... ORPHA:91355
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules
Recurrent sinopulmonary infections, Ciliary dyskinesia OMIM:215520
Brain-Lung-Thyroid Syndrome
Recurrent pneumonia, Asthma, Respiratory failure, Pulmonary arterial hypertension, Recurrent resp... ORPHA:209905
Coach Syndrome 2
Elevated circulating creatinine concentration, Hydrocephalus OMIM:619111
Congenital Toxoplasmosis
Ventriculomegaly, Anemia, Lymphadenopathy, Hydrocephalus, Cardiomegaly, Thrombocytopenia ORPHA:858
Band Heterotopia
Ventriculomegaly, Hydrocephalus OMIM:600348
Addison Disease
Hyponatremia, Normocytic anemia, Hypercalcemia, Increased circulating renin level, Hyperkalemia, ... ORPHA:85138
Holoprosencephaly
Abnormal pulmonary valve morphology, Tetralogy of Fallot, Hyponatremia, Cryptorchidism, Panhypopi... ORPHA:2162
Pulmonary Arteriovenous Malformation
Epistaxis, Hypoxemia, Pulmonary hemorrhage, Myocardial infarction, Cough, Dyspnea, Pulmonary arte... ORPHA:2038
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Abnormal lymphocyte morphology, Abnormal size of pituitary gland, Hyponatremia, Autoimmune thromb... ORPHA:293978
Porphyria Variegata
Anemia, Hyponatremia, Abnormal circulating porphyrin concentration ORPHA:79473
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema OMIM:618307
Aicardi-Goutieres Syndrome 4
Pancytopenia, Hepatosplenomegaly, Splenomegaly, Ventriculomegaly, CSF lymphocytic pleiocytosis, H... OMIM:610333
Rajab Interstitial Lung Disease With Brain Calcifications 2
Restrictive ventilatory defect, Cough, Abnormal pulmonary interstitial morphology OMIM:619013
Pyruvate Carboxylase Deficiency
Hypernatremia, Hypertaurinemia, Hyperlysinemia, Increased CSF citrulline concentration, Decreased... ORPHA:3008
Congenital Isolated Acth Deficiency
Hyponatremia ORPHA:199296
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Increased pulmonary vascular resistance, Dyspnea, Pulmonary arter... OMIM:178600
Pontocerebellar Hypoplasia, Type 15
Chronic neutropenia, Thrombocytopenia, Anemia, Hydrocephalus OMIM:619302
Temple Syndrome
Hypercholesterolemia, Cryptorchidism, Hypertriglyceridemia, Hydrocephalus, Decreased testicular size OMIM:616222
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Portal hypertension, Pulmonary hemorrhage, Cough, Recurrent respiratory infections, Pulmonary fib... ORPHA:79124
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema OMIM:614100
Birt-Hogg-Dubé Syndrome
Emphysema, Pneumothorax, Pulmonary sequestration ORPHA:122
Bartter Syndrome, Type 2, Antenatal
Hypokalemia, Increased serum prostaglandin E2, Hypochloremia, Increased circulating renin level, ... OMIM:241200
Granulomatosis With Polyangiitis
Sinusitis, Recurrent intrapulmonary hemorrhage, Restrictive ventilatory defect, Gastrointestinal ... ORPHA:900
Developmental And Epileptic Encephalopathy 36
Hydrocephalus OMIM:300884
Pulmonary Hypertension, Primary, 4
Atrial flutter, First degree atrioventricular block, Increased pulmonary vascular resistance, Rig... OMIM:615344
Sarcoidosis, Susceptibility To, 1
Emphysema, Restrictive ventilatory defect, Hypoxemia, Elevated bronchoalveolar lavage fluid lymph... OMIM:181000
Systemic Sclerosis
Raynaud phenomenon, Nail bed telangiectasia, Myocarditis, Dyspnea, Pulmonary arterial hypertensio... ORPHA:90291
Cutis Laxa, Autosomal Dominant 1
Emphysema, Mitral regurgitation, Aortic regurgitation OMIM:123700
Immunodeficiency 85 And Autoimmunity
Recurrent respiratory infections, Pulmonary fibrosis OMIM:619510
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent pneumonia, Pleural effusion, Pulmonary fibrosis OMIM:618935
Cyanosis, Transient Neonatal
Reticulocytosis, Anemia, Methemoglobinemia OMIM:613977
Infantile Sialic Acid Storage Disease
Vacuolated lymphocytes, Splenomegaly, Conjugated hyperbilirubinemia, Hydrocephalus, Cardiomegaly OMIM:269920
Acute Adrenal Insufficiency
Hyponatremia, Normocytic anemia, Hypercalcemia, Increased circulating renin level, Hyperkalemia, ... ORPHA:95409
Pulmonary Alveolar Proteinosis, Acquired
Restrictive ventilatory defect, Pneumonia, Hypoxemia, Lung abscess, Intraalveolar phospholipid ac... OMIM:610910
Distal 7Q11.23 Microduplication Syndrome
Cryptorchidism, Hydrocephalus, Frontal encephalocele ORPHA:261102
Acute Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Hemolytic anemia, Hypoalbuminemia ORPHA:529799
Chronic Bilirubin Encephalopathy
Neonatal hyperbilirubinemia, Hemolytic anemia, Hypernatremia, Hypoalbuminemia ORPHA:529808
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydranencephaly, Ventriculomegaly, Dandy-Walker malformation, Hydrocephalus, Holoprosencephaly OMIM:617967
Webb-Dattani Syndrome
Cryptorchidism, Hypernatremia, Decreased response to growth hormone stimulation test, Pituitary h... OMIM:615926
Alpha-1-Antitrypsin Deficiency
Emphysema ORPHA:60
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Juvenile Nephropathic Cystinosis
Hypokalemia, Hyponatremia, Elevated circulating creatinine concentration, Hypocalcemia, Hypourice... ORPHA:411634
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Hypocalcemia, Elevated circulating creatinine concentration OMIM:179800
Coenzyme Q10 Deficiency, Primary, 8
Left ventricular hypertrophy, Elevated circulating creatinine concentration OMIM:616733
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Micropenis, Occipital encephalocele, Anencephaly, Ventriculomegaly, Elevated circulating creatine... OMIM:615287
Relapsing Fever
Leukopenia, Leukocytosis, Elevated circulating creatinine concentration, Neutrophilia, Elevated c... ORPHA:91547
Immunodeficiency 91 And Hyperinflammation
Recurrent pneumonia, Pulmonary hemorrhage, Pleural effusion, Recurrent lower respiratory tract in... OMIM:619644
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, Left-to-right shunt, Right bundle branch block, Premature atrial co... ORPHA:99105
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Pulmonary fibrosis, Respiratory distress OMIM:612852
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:300448
Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Increased circulating renin level ORPHA:427
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Schistocytosis, Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood ur... OMIM:235400
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, HbH hemoglobin, Neutropenia, Acute leukemia, Thrombocytopenia ORPHA:231401
Dyskeratosis Congenita, Autosomal Dominant 2
Dilated cardiomyopathy, Pulmonary fibrosis OMIM:613989
Cholera
Abnormal blood ion concentration, Hypokalemia, Hypocalcemia, Hyponatremia ORPHA:173
Immune-Mediated Necrotizing Myopathy
Congestive heart failure, Myocarditis, Palpitations, Raynaud phenomenon, Abnormal pulmonary inter... ORPHA:206569
Dermatomyositis
Sinus tachycardia, Arrhythmia, Myocarditis, Myocardial infarction, Lung adenocarcinoma, Telangiec... ORPHA:221
Familial Dilated Cardiomyopathy
Left ventricular systolic dysfunction, Reduced ejection fraction, Arrhythmia, Congestive heart fa... ORPHA:217607
Methemoglobinemia And Ambiguous Genitalia
Micropenis, Male pseudohermaphroditism, Bifid scrotum, Ambiguous genitalia, Methemoglobinemia, Hy... OMIM:250790
Hermansky-Pudlak Syndrome
Bruising susceptibility, Gastrointestinal hemorrhage, Dyspnea, Cardiomyopathy, Pulmonary fibrosis... ORPHA:79430
Thrombotic Thrombocytopenic Purpura, Hereditary
Schistocytosis, Elevated circulating creatinine concentration, Increased blood urea nitrogen, Ret... OMIM:274150
Congenital Hydrocephalus
Abnormal heart morphology, Colpocephaly, Ventriculomegaly, Hydrocephalus ORPHA:2185
Idiopathic Non-Lupus Full-House Nephropathy
Elevated circulating creatinine concentration ORPHA:567544
Cutis Laxa-Marfanoid Syndrome
Emphysema ORPHA:171719
Japanese Encephalitis
Hyponatremia, Increased CSF protein, Neutrophilia, CSF pleocytosis, CSF lymphocytic pleiocytosis ORPHA:79139
46,Xx Gonadal Dysgenesis
Pulmonary fibrosis ORPHA:243
Omphalocele-Cleft Palate Syndrome, Lethal
Bicornuate uterus, Hydrocephalus OMIM:258320
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Arrhythmia, Congestive heart failure, Pulmonary embolism, Hypertrophic cardiomyopathy, Hypertension ORPHA:1345
Familial Isolated Restrictive Cardiomyopathy
Abnormal left ventricular function, Hypertrophic cardiomyopathy, Dyspnea, Pulmonary edema, Orthop... ORPHA:75249
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus OMIM:220200
Hepatocellular Carcinoma
Hypokalemia, Hyponatremia, Hypercalcemia, Thrombocytosis, Anemia, Hyperbilirubinemia, Hypoalbumin... ORPHA:88673
Infant Botulism
Hyponatremia ORPHA:178478
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema, Portal hypertension OMIM:210050
Biemond Syndrome Type 2
Hypogonadotropic hypogonadism, Hypospadias, Hypogonadism, Hydrocephalus ORPHA:141333
Pallister-Hall-Like Syndrome
Micropenis, Occipital encephalocele, Anterior hypopituitarism, Abnormal heart morphology, Hydroce... OMIM:241800
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Interstitial Nephritis, Karyomegalic
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:614817
Hereditary Amyloidosis With Primary Renal Involvement
Abnormality of the lymph nodes, Hepatosplenomegaly, Elevated circulating creatinine concentration... ORPHA:85450
Developmental And Epileptic Encephalopathy 49
Dandy-Walker malformation, Ventriculomegaly, Hydrocephalus OMIM:617281
Erdheim-Chester Disease
Congestive heart failure, Pleural effusion, Cough, Dyspnea, Pulmonary fibrosis, Abnormal pulmonar... ORPHA:35687
Lysosomal Acid Lipase Deficiency
Hepatosplenomegaly, Hyponatremia, Vacuolated lymphocytes, Hypercholesterolemia, Hyperkalemia, Ane... ORPHA:275761
Primary Ciliary Dyskinesia
Airway obstruction, Chronic rhinitis, Anomalous pulmonary venous return, Respiratory failure, Res... ORPHA:244
Reactive Arthritis
Aortic regurgitation, Abnormal pleura morphology, Pulmonary fibrosis, Pericarditis, Respiratory i... ORPHA:29207
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Dextrocardia, Elevated circulating creatinine concentration, Situs inversus totalis OMIM:613095
Ritscher-Schinzel Syndrome 1
Tetralogy of Fallot, Atrial septal defect, Double outlet right ventricle, Pulmonic stenosis, Dand... OMIM:220210
Dyskeratosis Congenita, Autosomal Dominant 1
Interstitial pneumonitis, Pulmonary fibrosis OMIM:127550
Idiopathic Hypereosinophilic Syndrome
Vasculitis in the skin, Dilated cardiomyopathy, Congestive heart failure, Asthma, Pulmonary embol... ORPHA:3260
Nephronophthisis-Like Nephropathy 2
Elevated circulating creatinine concentration OMIM:619468
Fanconi Anemia, Complementation Group R
Hydrocephalus OMIM:617244
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Respiratory failure, Tachypnea, Hepatocellular necrosis, Atelectasis, Recurrent respiratory infec... OMIM:618278
Kleeblattschaedel
Hydrocephalus OMIM:148800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Ventriculomegaly, Elevated circulating creatine kinase concentration, Dandy-Walker malformation, ... OMIM:613153
Nephronophthisis 2
Hyperkalemia, Elevated circulating creatinine concentration, Situs inversus totalis OMIM:602088
Masa Syndrome
Ventriculomegaly, Hydrocephalus OMIM:303350
Al Amyloidosis
Nonproductive cough, Bruising susceptibility, Gastrointestinal hemorrhage, Arrhythmia, Pulmonary ... ORPHA:85443
Central Precocious Puberty
Premature thelarche, Increased circulating gonadotropin level, Isosexual precocious puberty, Hydr... ORPHA:759
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventriculomegaly, Leukemia, Ventricular septal defect, Hydrocephalus OMIM:602501
Beta-Thalassemia Intermedia
Cholelithiasis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased HbA2 hemoglobin, Abnorm... ORPHA:231222
Infection-Related Hemolytic Uremic Syndrome
Leukocytosis, Hyponatremia, Hyperkalemia, Hypocalcemia, Myocarditis, Hemolytic anemia, Thrombocyt... ORPHA:544482
Autoimmune Pulmonary Alveolar Proteinosis
Restrictive ventilatory defect, Hypoxemia, Intraalveolar phospholipid accumulation, Crackles, Cou... ORPHA:747
Hartsfield Syndrome
Gonadotropin deficiency, Cryptorchidism, Micropenis, Lobar holoprosencephaly, Hypernatremia, Hypo... OMIM:615465
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Hypergonadotropic hypogonadism, Mitral valve prolapse, Hydrocephalus ORPHA:2183
Griscelli Syndrome
Leukopenia, Bone marrow hypocellularity, Abnormal circulating lipid concentration, Splenomegaly, ... ORPHA:381
Albers-Schönberg Osteopetrosis
Abnormal leukocyte morphology, Anemia, Hypocalcemia, Hydrocephalus ORPHA:53
Diamond-Blackfan Anemia 6
Tetralogy of Fallot, Macrocytic anemia, Atrial septal defect, Increased mean corpuscular volume, ... OMIM:612561
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypernatremia, Ventricular septal defect, Pulmonic stenosis OMIM:615508
Neonatal Lupus Erythematosus
Pancytopenia, Dilated cardiomyopathy, Splenomegaly, Neutropenia, Anemia, Abnormal heart morpholog... ORPHA:398124
Oculocerebrorenal Syndrome Of Lowe
Hypokalemia, Hyponatremia, Hypercholesterolemia, Cryptorchidism, Azoospermia, Hypoammonemia, Vent... ORPHA:534
Greig Cephalopolysyndactyly Syndrome
Cryptorchidism, Ventriculomegaly, Abnormal heart morphology, Hydrocephalus, Hypospadias OMIM:175700
46,Xy Sex Reversal 4
Hypoplastic labia majora, Elevated circulating creatinine concentration, Increased blood urea nit... OMIM:154230
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Ventriculomegaly, Hydrocephalus OMIM:614830
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase level, Increased mean corpuscular volume, Macrocytic anemia... OMIM:610629
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Hypogonadism, Hydrocephalus OMIM:601794
Hughes-Stovin Syndrome
Pulmonary embolism, Pulmonary artery aneurysm, Cough, Dyspnea, Pulmonary arterial hypertension, V... ORPHA:228116
Overlap Myositis
Pulmonary arterial hypertension, Raynaud phenomenon, Hypertension, Abnormal pulmonary interstitia... ORPHA:206572
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Abnormal cardiac septum morphology, Ventricular septal defect, Hydrocephalus ORPHA:83473
Hermansky-Pudlak Syndrome 2
Recurrent pneumonia, Prolonged bleeding time, Pulmonary fibrosis OMIM:608233
Craniofacial Dyssynostosis With Short Stature
Cryptorchidism, Ventriculomegaly, Ventricular septal defect, Hydrocephalus, Hypospadias OMIM:218350
Gracile Bone Dysplasia
Hypoplastic spleen, Micropenis, Hypocalcemia, Asplenia, Hydrocephalus OMIM:602361
Diencephalic Syndrome
Long penis, Hydrocephalus ORPHA:1672
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus ORPHA:26
Cystinosis, Nephropathic
Generalized aminoaciduria, Hypokalemia, Hyponatremia, Hypophosphatemic rickets, Splenomegaly, Dec... OMIM:219800
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Cryptorchidism, Hydrocephalus, Ventriculomegaly, Hypoplastic female external genitalia OMIM:618577
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Fried Syndrome
Hydrocephalus ORPHA:85335
Mend Syndrome
Cryptorchidism, Aortic valve stenosis, Dandy-Walker malformation, Hydrocephalus OMIM:300960
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Cryptorchidism, Hypertrophic cardiomyopathy, Pulmonic stenosis, Hydrocephalus ORPHA:2701
Gómez-López-Hernández Syndrome
Hydrocephalus ORPHA:1532
Peroxisome Biogenesis Disorder 12A (Zellweger)
Cholelithiasis, Abnormality of the male genitalia, Atrial septal defect, Double outlet right vent... OMIM:614886
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Patent ductus arteriosus, Congestive heart failure, Pulmonary emboli... ORPHA:90308
Pettigrew Syndrome
Dandy-Walker malformation, Ventriculomegaly, Hydrocephalus OMIM:304340
C3 Glomerulopathy
Elevated circulating creatinine concentration ORPHA:329918
Hermansky-Pudlak Syndrome 10
Apnea, Recurrent respiratory infections, Abnormal pulmonary interstitial morphology OMIM:617050
Diabetic Embryopathy
Tetralogy of Fallot, Abnormal morphology of female internal genitalia, Cryptorchidism, Micropenis... ORPHA:1926
Temple Syndrome
Cryptorchidism, Hydrocephalus, Decreased response to growth hormone stimulation test, Precocious ... ORPHA:254516
Pulmonary Hypertension, Primary, 2
Pulmonary arterial hypertension, Increased pulmonary vascular resistance OMIM:615342
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Aortic valve stenosis, Bicuspid aortic valve, Hydrocephalus OMIM:615599
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus OMIM:260500
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Supernumerary nipple, Elevated circulating creatinine concentration OMIM:614376
Acalvaria
Holoprosencephaly, Spina bifida, Hydrocephalus ORPHA:945
Idiopathic Pulmonary Arterial Hypertension
Congestive heart failure, Increased pulmonary vascular resistance, Dyspnea, Pulmonary arterial hy... ORPHA:275766
Adenine Phosphoribosyltransferase Deficiency
Elevated circulating creatinine concentration OMIM:614723
Spastic Paraplegia Type 2
Recurrent respiratory infections, Pulmonary embolism ORPHA:99015
Dominant Beta-Thalassemia
Dilated cardiomyopathy, Hepatosplenomegaly, Decreased mean corpuscular hemoglobin concentration, ... ORPHA:231226
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hydrocephalus OMIM:619470
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Ventriculomegaly, Hydrocephalus ORPHA:324416
Methylcobalamin Deficiency Type Cble
Pancytopenia, Hyperhomocystinemia, Hydrocephalus, Ventriculomegaly, Neutropenia, Increased mean c... ORPHA:2169
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Decreased plasma total carnitine, Elevated circulating creatinine concent... OMIM:608836
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Recurrent lower respiratory tract infections, Interstitial pneumonitis, Desquamative interstitial... OMIM:615952
Beta-Thalassemia Major
Dilated cardiomyopathy, Hepatosplenomegaly, Decreased mean corpuscular hemoglobin concentration, ... ORPHA:231214
Atrial Septal Defect, Ostium Secundum Type
Left-to-right shunt, Bundle branch block, Increased pulmonary vascular resistance, Atrial fibrill... ORPHA:99103
Autosomal Recessive Polycystic Kidney Disease
Hepatosplenomegaly, Increased serum bile acid concentration, Pancreatic cysts, Hyponatremia, Sple... ORPHA:731
Congenital Disorder Of Glycosylation, Type Iil
Pancytopenia, Atrial septal defect, Splenomegaly, Ventriculomegaly, Elevated circulating creatine... OMIM:614576
Frontal Encephalocele
Spina bifida, Encephalocele, Hydrocephalus ORPHA:1931
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Hypernatremia OMIM:125800
Proteus-Like Syndrome
Communicating hydrocephalus, Polycystic ovaries, Splenomegaly, Abnormality of the parathyroid gla... ORPHA:2969
Functioning Gonadotropic Adenoma
Central diabetes insipidus, Hydrocephalus, Panhypopituitarism, Anterior hypopituitarism, Ovarian ... ORPHA:91348
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Hypernatremia OMIM:304800
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Subcutaneous hemorrhage, Pulmonary embolism, Purpura ORPHA:743
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Recurrent pneumonia, Elevated jugular venous pressure... ORPHA:1329
Hec Syndrome
Communicating hydrocephalus, Cardiomyopathy, Vaginal hydrocele, Endocardial fibroelastosis ORPHA:2119
Cardiogenic Shock
ST segment elevation, Impaired myocardial contractility, Cardiac arrest, Hypoxemia, Abnormal left... ORPHA:97292
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Pulmonary embolism, Purpura ORPHA:745
Familial Dysautonomia
Hyponatremia ORPHA:1764
Osteopetrosis, Autosomal Recessive 1
Pancytopenia, Hypocalcemia, Splenomegaly, Anemia, Hydrocephalus, Thrombocytopenia OMIM:259700
Meckel Syndrome, Type 4
Bile duct proliferation, Atrial septal defect, Anencephaly, Dandy-Walker malformation, Ventricula... OMIM:611134
Acute Intermittent Porphyria
Hyponatremia ORPHA:79276
Triploidy
Cryptorchidism, Hypoplasia of penis, Hydrocephalus, Ambiguous genitalia, Holoprosencephaly, Menin... ORPHA:3376
Bone Marrow Failure Syndrome 6
Bone marrow hypocellularity, Neutropenia, Anemia, Increased mean corpuscular volume, Persistence ... OMIM:618849
Achondroplasia
Hydrocephalus OMIM:100800
Multiple Myeloma
Elevated circulating creatinine concentration, Hypercalcemia, Splenomegaly, Anemia, Lymphadenopat... ORPHA:29073
Krabbe Disease
Autoimmune thrombocytopenia, Increased CSF protein, Hydrocephalus OMIM:245200
Fixed Subaortic Stenosis
Paroxysmal atrial fibrillation, Aortic regurgitation, Systolic heart murmur, Congestive heart fai... ORPHA:3092
Pentalogy Of Cantrell
Absent gallbladder, Tetralogy of Fallot, Abnormal pericardium morphology, Atrial septal defect, A... ORPHA:1335
Beemer-Ertbruggen Syndrome
Cryptorchidism, Ambiguous genitalia, Communicating hydrocephalus, Thrombocytopenia ORPHA:1237
Dyskeratosis Congenita, Autosomal Recessive 1
Pulmonary fibrosis OMIM:224230
Muscle-Eye-Brain Disease
Elevated circulating creatine kinase concentration, Holoprosencephaly, Meningocele, Hydrocephalus ORPHA:588
Gaucher Disease
Gingival bleeding, Pulmonary arterial hypertension, Pulmonary fibrosis, Respiratory insufficiency... ORPHA:355
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Normochromic anemia, Elevated circulating creatinine concentration, Cardiomyopathy, Normocytic an... ORPHA:247691
Atrial Septal Defect, Coronary Sinus Type
Pneumonia, Systolic heart murmur, Arrhythmia, Anomalous pulmonary venous return, Abnormally loud ... ORPHA:99104
Osteopetrosis, Autosomal Recessive 5
Pancytopenia, Leukocytosis, Hypocalcemia, Splenomegaly, Ventriculomegaly, Anemia, Hypochromic mic... OMIM:259720
Gaucher Disease Type 1
Pulmonary arterial hypertension, Bruising susceptibility, Abnormal pulmonary interstitial morphol... ORPHA:77259
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Cryptorchidism, Hypospadias, Micropenis, Hydrocephalus ORPHA:171839
Neural Tube Defects, Susceptibility To
Spina bifida occulta, Anencephaly, Myelomeningocele, Hydrocephalus OMIM:182940
Dyskeratosis Congenita, Autosomal Dominant 3
Pulmonary fibrosis OMIM:613990
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Bronchiolitis obliterans OMIM:617241
Acquired Aneurysmal Subarachnoid Hemorrhage
Leukocytosis, Hypercholesterolemia, Hypopituitarism, Increased CSF lactate, Hydrocephalus, Left v... ORPHA:90065
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Hydrocephalus ORPHA:352682
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Communicating hydrocephalus, Schistocytosis, Sideroblastic anemia, Splenomegaly, Aminoaciduria, C... OMIM:616084
Genitopalatocardiac Syndrome
Gonadal dysgenesis, male, Cryptorchidism, Male pseudohermaphroditism, Hydrocephalus, Hypospadias,... ORPHA:2075
3C Syndrome
Tetralogy of Fallot, Abnormal tricuspid valve morphology, Atrioventricular canal defect, Abnormal... ORPHA:7
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Elevated circulating creatinine concentration, Hyperuricemia ORPHA:79233
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Central diabetes insipidus, Gonadotropin deficiency, Hyperlipidemia, Hyponatremia, Increased circ... ORPHA:293987
Bacterial Toxic-Shock Syndrome
Increased circulating metamyelocyte count, Elevated circulating creatinine concentration, Increas... ORPHA:36234
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Cryptorchidism, Hypoplasia of penis, Ventricular septal defect, Hydrocephalus, Holoprosencephaly,... ORPHA:77298
Sarcoidosis
Emphysema, Chylothorax, Portal hypertension, Ventricular tachycardia, Arrhythmia, Abnormal pleura... ORPHA:797
47,Xyy Syndrome
Varicocele, Cryptorchidism, Micropenis, Azoospermia, Oligospermia, Macroorchidism, Hydrocephalus,... ORPHA:8
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Ecchymosis, Spontaneous, recurrent epistaxis, Pulmonary arterial hypertension, Pulmonary fibrosis... ORPHA:2072
Familial Pseudohyperkalemia
Hyperkalemia, Increased mean corpuscular volume, Stomatocytosis, Reticulocytosis, Episodic hemoly... ORPHA:90044
Mental Retardation, Buenos Aires Type
Atrial septal defect, Hypospadias, Hydrocephalus OMIM:249630
Dandy-Walker Malformation With Postaxial Polydactyly
Dandy-Walker malformation, Aortic valve stenosis, Dilated fourth ventricle, Hydrocephalus OMIM:220220
B4Galt1-Cdg
Splenomegaly, Elevated circulating creatine kinase concentration, Dandy-Walker malformation, Hydr... ORPHA:79332
Hydrolethalus Syndrome 2
Anencephaly, Ventriculomegaly, Hydrocephalus OMIM:614120
Polycythemia Vera
Bruising susceptibility, Portal hypertension, Gastrointestinal hemorrhage, Gingival bleeding, Pul... ORPHA:729
Q Fever
Pneumonia, Abnormal left ventricular function, Myocarditis, Cough, Pleural effusion, Vasculitis, ... ORPHA:781
Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency
Pulmonary embolism ORPHA:82
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Splenomegaly, Ventriculomegaly, Ventricular septal defect, Hydrocephalus OMIM:615630
Nasu-Hakola Disease
Ventriculomegaly, Acute leukemia, Hydrocephalus ORPHA:2770
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Bicuspid aortic valve, Hydrocephalus ORPHA:397951
Papillary Tumor Of The Pineal Region
Increased CSF protein, Hydrocephalus ORPHA:251915
Structural Heart Defects And Renal Anomalies Syndrome
Tetralogy of Fallot, Elevated circulating creatinine concentration, Tricuspid atresia, Atrial sep... OMIM:617478
Dopamine Beta-Hydroxylase Deficiency
Increased blood urea nitrogen, Anemia, Elevated circulating creatinine concentration ORPHA:230
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Hydrocephalus ORPHA:1516
Isolated Anencephaly
Thymus hyperplasia ORPHA:563609
Congenital Disorder Of Glycosylation, Type Iit
Pineal cyst, Decreased serum creatinine, Hypotriglyceridemia, Iron deficiency anemia, Decreased H... OMIM:618885
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Dilation of lateral ventricles, Hydrocephalus OMIM:300864
Congenital Tracheomalacia
Tracheomalacia, Productive cough, Wheezing, Emphysema, Recurrent upper respiratory tract infectio... ORPHA:95430
Congenital Muscular Dystrophy, Fukuyama Type
Dilated cardiomyopathy, Ventriculomegaly, Hydrocephalus ORPHA:272
Pseudotrisomy 13 Syndrome
Complete atrioventricular canal defect, Tricuspid atresia, Cryptorchidism, Micropenis, Atrial sep... OMIM:264480
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Anemia, Elevated circulating creatinine concentration, Hyperuricemia OMIM:174000
Focal Facial Dermal Dysplasia Type Iv
Abnormal mast cell morphology, Hydrocephalus ORPHA:398189
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Elevated circulating creatine kinase concentration, Hydrocephalus OMIM:615181
Dextrocardia
Pancreatic hypoplasia, Dextrocardia, Situs inversus totalis, Abnormal heart morphology, Abnormali... ORPHA:1666
Fanconi Anemia, Complementation Group B
Micropenis, Ventriculomegaly, Ventricular septal defect, Aplastic anemia, Hydrocephalus, Hypergon... OMIM:300514
Igg4-Related Retroperitoneal Fibrosis
Varicocele, Elevated circulating creatinine concentration, Normocytic anemia, Increased blood ure... ORPHA:49041
Thanatophoric Dysplasia Type 2
Atrial septal defect, Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Encephalocele ORPHA:93274
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Cryptorchidism, Microcytic anemia, Hypospadias, HbH hemoglobin ORPHA:98791
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus, Endocardial fibroelastosis OMIM:600559
Gaucher Disease, Type Iiic
Pancytopenia, Splenomegaly, Mitral stenosis, Hydrocephalus, Mitral valve calcification, Cardiomeg... OMIM:231005
Aminopterin/Methotrexate Embryofetopathy
Tetralogy of Fallot, Anencephaly, Situs inversus totalis, Spinal dysraphism, Ventricular septal d... ORPHA:1908
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Cryptorchidism, Hypertrophic cardiomyopathy, Dandy-Walker malformation, Ventricular septal defect... OMIM:612938
Nephrogenic Diabetes Insipidus
Hypernatremia ORPHA:223
Williams-Beuren Region Duplication Syndrome
Cryptorchidism, Decreased response to growth hormone stimulation test, Ventriculomegaly, Hydrocep... OMIM:609757
Craniotelencephalic Dysplasia
Hydrocephalus, Frontal encephalocele, Arrhinencephaly ORPHA:1528
Atrial Septal Defect 9
Pulmonary arterial hypertension OMIM:614475
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Cryptorchidism, Micropenis, Hypocalcemia, Atrial septal defect, Anemia, Hyper... ORPHA:163979
Bresek Syndrome
Cryptorchidism, Hydrocephalus, Decreased testicular size ORPHA:85284
Congenital Tricuspid Stenosis
Congestive heart failure, Tricuspid stenosis, Hypotension, Pulmonary arterial hypertension, Heart... ORPHA:95459
Aapoaiv Amyloidosis
Cardiac amyloidosis, Hyperlipidemia, Elevated circulating creatinine concentration, Hypertrophic ... ORPHA:439232
Primary Familial Polycythemia
Abnormal hemoglobin, Polycythemia ORPHA:90042
Radial Aplasia, X-Linked
Penile hypospadias, Hydrocephalus OMIM:312190
Lissencephaly 5
Occipital encephalocele, Hydrocephalus OMIM:615191
Autosomal Dominant Polycystic Kidney Disease
Mitral valve prolapse, Elevated circulating creatinine concentration, Pancreatic cysts, Pituitary... ORPHA:730
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Spina bifida occulta, Myelomeningocele, Hydrocephalus OMIM:183802
Axenfeld-Rieger Syndrome, Type 2
Cryptorchidism, Abnormal heart morphology, Hypospadias, Hydrocephalus OMIM:601499
Intellectual Developmental Disorder, Autosomal Recessive 68
Hydrocephalus OMIM:618302
T-Cell Immunodeficiency With Thymic Aplasia
Emphysema, Recurrent bronchopulmonary infections, Recurrent pneumonia, Bronchiectasis OMIM:242700
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Occipital encephalocele, Ventriculomegaly, Elevated circulating creatin... ORPHA:370959
Fanconi Anemia, Complementation Group L
Micropenis, Anemia, Bone marrow hypocellularity, Hydrocephalus OMIM:614083
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydrocephalus, Atrioventricular canal defect, Transposition of the great arteries, Urethral atresia OMIM:314390
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis