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Gene: Ybx1 MGI:99146

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
Y box protein 1
Synonyms:
dbpB,  YB-1,  Nsep1,  DNA binding protein B,  MSY1,  EF1A

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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.

Phenotype associated images not available

Human diseases caused by Ybx1 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Ybx1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Familial Cervical Artery Dissection
Striae distensae, Carotid artery dissection, Transient ischemic attack, Subarachnoid hemorrhage, ... ORPHA:36382
Congenital Factor Xiii Deficiency
Epistaxis, Poor wound healing, Cerebral hemorrhage, Joint hemorrhage, Prolonged bleeding after su... ORPHA:331
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy... OMIM:619897
Cerebral Cavernous Malformations 2
Cerebral cavernous malformation, Stroke, Cerebral hemorrhage, Telangiectasia OMIM:603284
Butyrylcholinesterase Deficiency
Respiratory failure requiring assisted ventilation, Myocardial infarction, Congestive heart failu... ORPHA:132
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Pulmonary embolism, Cerebral hemorrhage, Purpura OMIM:614514
Afibrinogenemia, Congenital
Abnormal bleeding, Death in infancy, Epidural hemorrhage, Epistaxis, Hematemesis, Splenic rupture... OMIM:202400
Immune Thrombocytopenia
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Bruising suscepti... ORPHA:3002
Aneurysm, Intracranial Berry, 12
Internal carotid artery dissection, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Arterial... OMIM:618734
Sneddon Syndrome
Cutis marmorata, Cerebral hemorrhage, Livedo reticularis, Livedo, Hypertension, Ischemic stroke, ... OMIM:182410
Abetal34V Amyloidosis
Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage ORPHA:324703
Acute Peripheral Arterial Occlusion
Myocardial infarction, Abnormal capillary physiology, Absent ankle pulse, Stroke, Pallor, Suprave... ORPHA:90064
Reversible Cerebral Vasoconstriction Syndrome
Abnormal bleeding, Carotid artery dissection, Transient ischemic attack, Cerebral hemorrhage, Sub... ORPHA:284388
Cerebral Amyloid Angiopathy, Cst3-Related
Intracranial hemorrhage, Stroke, Cerebral hemorrhage OMIM:105150
Dengue Fever
Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Cerebral hemorrhage, Cardiorespiratory arre... ORPHA:99828
Cerebral Cavernous Malformations
Intracranial hemorrhage, Hepatic vascular malformations, Cerebral cavernous malformation OMIM:116860
Familial Afibrinogenemia
Abnormal bleeding, Miscarriage, Epistaxis, Cerebral hemorrhage, Gingival bleeding ORPHA:98880
Circumvallate Placenta Syndrome
Intracranial hemorrhage, Respiratory insufficiency OMIM:215550
Dural Sinus Malformation
Cerebral hemorrhage, Subarachnoid hemorrhage, Myelopathy, Cerebellar hemorrhage, Hydrocephalus, S... ORPHA:97339
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Splenomegaly, Hepatomegaly, Pallor ORPHA:46532
Erythrocytosis, Familial, 1
Plethora, Cerebral hemorrhage, Myocardial infarction, Splenomegaly, Hypertension, Exertional dyspnea OMIM:133100
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Central apnea, Death in infancy, Respiratory failure, Respiratory insufficiency OMIM:611722
Abeta Amyloidosis, Iowa Type
Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage ORPHA:324708
Pseudo-Torch Syndrome 2
Elevated hepatic transaminase, Hepatomegaly, Acute respiratory distress syndrome, Cerebral hemorr... OMIM:617397
Spinal Muscular Atrophy, Type I
Respiratory failure, Respiratory insufficiency, Death in childhood OMIM:253300
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Transient ischemic attack, Cerebral hemorrhage, Arterial stenosis, Intracranial hemorrhage, Hyper... ORPHA:136
Abeta Amyloidosis, Italian Type
Stroke, Cerebral hemorrhage ORPHA:324713
Hereditary Hemorrhagic Telangiectasia
Conjunctival telangiectasia, Abnormal cerebral vascular morphology, Retinal telangiectasia, Pulmo... ORPHA:774
Non-Functioning Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Flushing, Palpitations, Pallor, Positive regitine ... ORPHA:94080
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Respiratory insufficiency due to muscle weakness, Respiratory failure, Death in adolescence OMIM:300717
Wyburn-Mason Syndrome
Peripheral arteriovenous fistula, Epistaxis, Abnormal cerebral vascular morphology, Cerebral hemo... ORPHA:53719
Cerebral Cavernous Malformations 3
Cerebral cavernous malformation, Cerebral hemorrhage OMIM:603285
Internal Carotid Absence
Dilatation of the cerebral artery, Cerebral ischemia, Subarachnoid hemorrhage ORPHA:981
Moderate Hemophilia A
Abnormal bleeding, Gastrointestinal hemorrhage, Epidural hemorrhage, Joint hemorrhage, Prolonged ... ORPHA:169805
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... OMIM:187300
Congenital Heart Block
Cyanosis, First degree atrioventricular block, Crackles, Gallop rhythm, Congestive heart failure,... ORPHA:60041
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Cerebral hemorrhage, Dilated cardiomyopathy, Premature graying of hair, Hypertension, Ischemic st... ORPHA:280679
Snakebite Envenomation
Abnormal bleeding, Tachycardia, Epistaxis, Myocardial infarction, Cardiogenic shock, Angioedema, ... ORPHA:449285
Hemophilia A
Gastrointestinal hemorrhage, Intraventricular hemorrhage, Splenic rupture, Intracranial hemorrhag... ORPHA:98878
Pontocerebellar Hypoplasia, Type 1C
Respiratory failure, Respiratory insufficiency, Death in childhood OMIM:616081
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Reduced vital capacity, Abnormal respiratory system physiology, Respiratory insufficiency, Reduce... ORPHA:266
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Elevated hepatic transaminase, Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Prolonged proth... OMIM:277450
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Hepatomegaly, Cyanosis, Tricuspid regurgitation, Splenomegaly, Congestive h... ORPHA:2414
Aneurysm, Intracranial Berry, 2
Subarachnoid hemorrhage, Cerebral berry aneurysm OMIM:608542
Aneurysm, Intracranial Berry, 1
Intracranial hemorrhage, Dilatation of the cerebral artery OMIM:105800
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency OMIM:613869
Glanzmann Thrombasthenia 1
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Subdural hemorrhage, Intracrania... OMIM:273800
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory distress, Hepatomegaly, Elevated hepatic transaminase, Respiratory insufficiency due ... OMIM:613561
Mitochondrial Trifunctional Protein Deficiency 2
Death in infancy, Tricuspid regurgitation, Elevated circulating aspartate aminotransferase concen... OMIM:620300
Breath-Holding Spells
Cyanosis, Pallor OMIM:607578
Hepatic Veno-Occlusive Disease
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Respiratory failure ORPHA:890
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Hepatomegaly, Splenomegaly, Restrictive ventilatory defect, Respiratory failure, Interstitial pne... OMIM:620296
Perching Syndrome
Respiratory distress, Cyanosis OMIM:617055
Glycine Encephalopathy 2
Respiratory failure OMIM:620398
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... OMIM:610655
Developmental And Epileptic Encephalopathy 71
Respiratory failure, Cheyne-Stokes respiration, Respiratory insufficiency OMIM:618328
Erythrocytosis, Familial, 2
Plethora, Cerebral hemorrhage, Varicose veins, Stroke, Hypotension, Pulmonary arterial hypertension OMIM:263400
Dermatitis, Atopic
Allergic rhinitis, Asthma, Facial erythema, Pallor, Dry skin OMIM:603165
Asbestos Intoxication
Reduced vital capacity, Cyanosis, Right ventricular failure, Reduced forced vital capacity, Nonpr... ORPHA:2302
Evans Syndrome
Epistaxis, Dyspnea, Jaundice, Syncope, Pallor, Bruising susceptibility, Petechiae ORPHA:1959
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Hematemesis, Abnor... ORPHA:464321
Factor Xiii, A Subunit, Deficiency Of
Abnormal bleeding, Epistaxis, Intracranial hemorrhage, Spontaneous hematomas, Abnormal umbilical ... OMIM:613225
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Dyspnea, Tachypnea, Respiratory... OMIM:265120
Congenital Factor V Deficiency
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... ORPHA:326
Ceroid Lipofuscinosis, Neuronal, 10
Apnea, Respiratory insufficiency, Vascular granular osmiophilic material deposition, Respiratory ... OMIM:610127
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Intrauterine growth retardation, Respiratory failure, Dyspnea ORPHA:1832
Methanol Poisoning
Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atrial fibrillat... ORPHA:31825
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Periventricular Nodular Heterotopia 1
Patent ductus arteriosus, Stroke, Cerebral hemorrhage OMIM:300049
Phosphoserine Aminotransferase Deficiency
Death in infancy, Cyanotic episode, Apnea OMIM:610992
Immunodeficiency 95
Respiratory distress, Respiratory failure, Recurrent viral pneumonia OMIM:619773
Acquired Aneurysmal Subarachnoid Hemorrhage
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hydrocephalus, Hypertension... ORPHA:90065
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Death in infancy, Neonatal respiratory distress, Elevated circulating aspartate aminotransferase ... OMIM:245400
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Crackles, Diffuse alveolar hemorrhage, Dyspnea, Heart murmur, Hepatosplenomegaly, R... ORPHA:99931
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory failure, Aspiration pneu... ORPHA:90117
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Prolonged bleeding time, Splenomegaly, Intracranial hemorrhage, Respiratory failure... ORPHA:3226
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Low-output congestive heart failure, Hypertrophic cardiomyopathy, Cyanosis ORPHA:91130
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Spinal a... OMIM:600376
Seizures, Benign Familial Infantile, 3
Cyanosis, Apnea OMIM:607745
Pseudo-Torch Syndrome 3
Death in infancy, Apnea, Cerebral hemorrhage, Respiratory insufficiency, Hypertension OMIM:618886
Neuralgic Amyotrophy
Acrocyanosis, Respiratory insufficiency ORPHA:2901
Acquired Purpura Fulminans
Shock, Pyoderma gangrenosum, Intracranial hemorrhage, Acrocyanosis, Prolonged prothrombin time, M... ORPHA:49566
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated hepatic transaminase, Hepatomegaly, Neonatal respiratory distress, Death in infancy, Apn... OMIM:608836
Congenital Arthrogryposis With Anterior Horn Cell Disease
Neonatal death, Respiratory failure, Respiratory insufficiency due to muscle weakness OMIM:611890
Pulmonary Arteriovenous Malformation
Abnormal bleeding, Cyanosis, Liver abscess, Epistaxis, Myocardial infarction, Transient ischemic ... ORPHA:2038
Laryngotracheal Angioma
Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough ORPHA:137935
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Gastrointestinal hemorrhage, Epidural hemorrhage, Miscarriage, Epistaxis, Poor wound healing, Joi... ORPHA:465
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Cerebral hemorrhage, Dilated cardiomyopathy, Stroke-like episode, Premature graying of hair, Hype... OMIM:300845
Acute Myelomonocytic Leukemia
Abnormal bleeding, Dyspnea, Pallor ORPHA:517
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Cyanosis, Tachypnea, Respiratory failure, Cough OMIM:263000
X-Linked Sideroblastic Anemia
Elevated hepatic transaminase, Dyspnea, Pallor, Splenomegaly ORPHA:75563
Seizures, Benign Familial Infantile, 1
Cyanosis, Apnea OMIM:601764
Fibronectin Glomerulopathy
Hypertension, Cerebral hemorrhage ORPHA:84090
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Death in infancy, Apnea, Respiratory failure, Bradycardia, Hypertrophic cardiomyopathy OMIM:616277
Combined Oxidative Phosphorylation Deficiency 51
Intrauterine growth retardation, Neonatal respiratory distress, Respiratory failure, Aspiration p... OMIM:619057
Severe Hemophilia A
Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Poor wound healing, Prolonged bleedi... ORPHA:169802
Cryptogenic Organizing Pneumonia
Respiratory distress, Bronchial breath sound, Cyanosis, Crackles, Nonproductive cough, Dyspnea, W... ORPHA:1302
Leukoencephalopathy With Calcifications And Cysts
Stroke, Cerebral hemorrhage ORPHA:542310
Beta-Thalassemia
Hepatomegaly, Splenomegaly, Hepatitis, Respiratory insufficiency, Skin ulcer, Pallor, Cholelithia... ORPHA:848
Nemaline Myopathy 8
Death in infancy, Respiratory failure OMIM:615348
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Restrictive ventilatory defect, Respiratory failure, Respiratory insufficiency OMIM:614399
Sneddon Syndrome
Cutis marmorata, Arterial stenosis, Intracranial hemorrhage, Hypertension, Vascular skin abnormality ORPHA:820
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Fetal Gaucher Disease
Hepatomegaly, Death in infancy, Abnormality of the spleen, Splenomegaly, Intracranial hemorrhage,... ORPHA:85212
Peripheral Cone Dystrophy
Pallor OMIM:609021
Combined Oxidative Phosphorylation Deficiency 52
Death in infancy, Elevated circulating aspartate aminotransferase concentration, Elevated circula... OMIM:619386
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Hepatomegaly, Tachycardia, Cyanosis, Abnormal coronary a... ORPHA:860
Congenital Myopathy 14
Respiratory insufficiency due to muscle weakness, Death in infancy, Respiratory failure, Apnea OMIM:618414
Chiari Malformation Type Ii
Cyanosis, Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Inspiratory stridor OMIM:207950
Infant Acute Respiratory Distress Syndrome
Tachycardia, Cyanosis, Pneumonia, Cardiac arrest, Nasal flaring, Tachypnea, Hypoxemia, Respirator... ORPHA:70587
Cyanosis, Transient Neonatal
Hepatomegaly, Jaundice, Cyanosis OMIM:613977
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Death in infancy, Cerebral hemorrhage, Subdural hemorrhage, Respiratory fai... OMIM:620278
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Combined Oxidative Phosphorylation Deficiency 28
Congestive heart failure, Respiratory failure OMIM:616794
Polycythemia Vera
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Cerebral ischemia, Budd-Chiari sy... OMIM:263300
Peripartum Cardiomyopathy
Crackles, Ventricular tachycardia, Left bundle branch block, Abnormal T-wave, Dilated cardiomyopa... ORPHA:563
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Pericarditis, Splenomegaly, Congestive heart failure, Hydrocephalus, Pallor ORPHA:163596
Pontocerebellar Hypoplasia, Type 4
Death in infancy, Respiratory failure OMIM:225753
Intellectual Developmental Disorder, Autosomal Recessive 68
Hypoplasia of the maxilla, Hydrocephalus OMIM:618302
Hyperekplexia 4
Umbilical hernia, Respiratory failure OMIM:618011
Vacterl Association With Hydrocephalus
Aqueductal stenosis, Hydrocephalus, Respiratory insufficiency, Respiratory failure, Stillbirth OMIM:276950
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Fetal And Neonatal Alloimmune Thrombocytopenia
Abnormal bleeding, Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Cephalohematoma, Intracr... ORPHA:853
Congenital Factor Ii Deficiency
Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part... ORPHA:325
Familial Cerebral Saccular Aneurysm
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... ORPHA:231160
Sporadic Pheochromocytoma/Secreting Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Flushing, Palpitations, Pallor, Positive regitine ... ORPHA:276621
High Altitude Pulmonary Edema
Orthopnea, Tachycardia, Cyanosis, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough ORPHA:330012
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Respiratory failure OMIM:600561
Factor Vii Deficiency
Abnormal bleeding, Epistaxis, Joint hemorrhage, Intracranial hemorrhage, Menorrhagia, Bruising su... OMIM:227500
Joubert Syndrome 15
Exencephaly OMIM:614464
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Respiratory insufficiency due to muscle weakness, Respiratory failure, Recurrent aspiration pneum... ORPHA:2590
Buerger Disease
Vasculitis, Acrocyanosis, Skin ulcer ORPHA:36258
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Nonspecif... OMIM:610921
Renal Hypodysplasia/Aplasia 4
Respiratory failure OMIM:619887
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Tachycardia, Syncope, Palpitations, Pallor, Diffuse pancreatic islet hyperplasia, H... ORPHA:276575
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... ORPHA:254875
Optic Atrophy 1
Pallor OMIM:165500
Hemophilia B
Spontaneous, recurrent epistaxis, Prolonged bleeding time, Poor wound healing, Prolonged bleeding... ORPHA:98879
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Tachycardia, Syncope, Palpitations, Pallor, Diffuse pancreatic islet hyperplasia, H... ORPHA:276556
Primary Pulmonary Hypoplasia
Neonatal respiratory distress, Cyanosis, Apnea, Asthma, Tachypnea, Pneumothorax, Hypoxemia, Restr... ORPHA:2257
Acute Lung Injury
Respiratory distress, Shock, Acute pancreatitis, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea,... ORPHA:178320
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Congestive heart failure, Stroke-like episode, Respiratory failure, Decreased liver function, Hyp... ORPHA:70472
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Congenital Factor Vii Deficiency
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... ORPHA:327
Cerebral Amyloid Angiopathy, App-Related
Tortuous cerebral arteries, Subarachnoid hemorrhage, Cerebellar hemorrhage, Recurrent cerebral he... OMIM:605714
Aspergillosis
Sinusitis, Pneumonia, Dyspnea, Asthma, Chronic pulmonary obstruction, Abnormality on pulmonary fu... ORPHA:1163
Avian Influenza
Respiratory distress, Elevated hepatic transaminase, Miscarriage, Pneumonia, Productive cough, No... ORPHA:454836
Adult Acute Respiratory Distress Syndrome
Shock, Pneumonia, Dyspnea, Vasculitis, Hypoxemia, Respiratory failure, Abnormal blood gas level, ... ORPHA:70578
Familial Focal Epilepsy With Variable Foci
Pallor, Flushing ORPHA:98820
Classic Glucose Transporter Type 1 Deficiency Syndrome
Central apnea, Cyanosis ORPHA:71277
Cocaine Intoxication
Respiratory distress, Prolonged QT interval, Tachycardia, Aortic dissection, Prolonged QRS comple... ORPHA:90068
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Hepatomegaly, Death in infancy, Tachypnea, Dilated cardiomyopathy, Respirat... OMIM:614299
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Cyanosis, Spontaneous pneumothorax, Nonspecific interstitial pneumonia, Red... OMIM:610913
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Death in infancy, Cardiomyopathy, Respiratory failure, Stillbirth, Decreased liver ... OMIM:614922
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Tachycardia, Syncope, Palpitations, Pallor, Diffuse pancreatic islet hyperplasia, H... ORPHA:276580
Riddle Syndrome
Conjunctival telangiectasia, Pneumonia, Neonatal asphyxia, Intraventricular hemorrhage, Erythema,... ORPHA:420741
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cardiac arrest, Paroxysmal atrial tachycardia, Congestive heart failure, Stroke, Pallor ORPHA:49827
Muscular Dystrophy, Congenital, 1B
Respiratory failure OMIM:604801
Spontaneous Periodic Hypothermia
Arrhythmia, Abnormal pattern of respiration, Pallor ORPHA:29822
Sepsis In Premature Infants
Abnormal bleeding, Hepatomegaly, Tachycardia, Cyanosis, Abnormal mucociliary clearance, Dyspnea, ... ORPHA:90051
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Shock, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Hy... ORPHA:36238
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Medial calcification of large arteries, Premature occlusive vascular... OMIM:177850
Combined Deficiency Of Factor V And Factor Viii
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... ORPHA:35909
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Hepatomegaly, Cutis marmorata, Epistaxis, Splenomegaly, Congestive h... ORPHA:33226
Anemia, Congenital Dyserythropoietic, Type Ib
Splenomegaly, Hepatomegaly, Jaundice, Pallor OMIM:615631
Arthrogryposis Multiplex Congenita 6
Neonatal death, Death in infancy, Respiratory failure, Death in childhood OMIM:619334
Pneumocystosis
Respiratory failure requiring assisted ventilation, Nonproductive cough, Dyspnea, Respiratory ins... ORPHA:723
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertension, Respiratory failure, Cirrhosis, ... ORPHA:363400
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Death in infancy, Intraventricular hemorrhage, Death in adolescence, Prolonged prothrombin time, ... OMIM:619055
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Sup... ORPHA:99103
Chronic Pneumonitis Of Infancy
Respiratory distress, Cyanosis, Intercostal retractions, Reduced forced vital capacity, Tachypnea... ORPHA:91359
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Postsynaptic Congenital Myasthenic Syndromes
Orthopnea, Reduced vital capacity, Cyanosis, Restrictive ventilatory defect, Respiratory failure,... ORPHA:98913
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Respiratory failure OMIM:618637
Niemann-Pick Disease, Type C2
Hepatomegaly, Neonatal respiratory distress, Death in infancy, CNS foam cells, Bone-marrow foam c... OMIM:607625
Congenital Factor X Deficiency
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... ORPHA:328
Leishmaniasis
Elevated hepatic transaminase, Hepatomegaly, Abnormal bleeding, Splenomegaly, Skin ulcer, Rhiniti... ORPHA:507
Beta-Thalassemia Intermedia
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Jaundice, High-output congestive heart fail... ORPHA:231222
Tricuspid Atresia
Cyanosis, Coarctation of aorta, Transposition of the great arteries, Pulmonary artery atresia, Pe... ORPHA:1209
American Trypanosomiasis
Hepatomegaly, Dyspnea, Splenomegaly, Congestive heart failure, Myocarditis, Cardiomyopathy, Pallo... ORPHA:3386
Laryngotracheoesophageal Cleft
Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Cough, Aspiration ORPHA:2004
Congenital Alpha2-Antiplasmin Deficiency
Abnormal bleeding, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Gingival bleeding,... ORPHA:79
Immunodeficiency 54
Hepatomegaly, Splenomegaly, Respiratory insufficiency, Respiratory failure, Intrauterine growth r... OMIM:609981
Congenital Tracheomalacia
Apnea, Decreased peak expiratory flow, Cough, Emphysema, Neonatal respiratory distress, Intercost... ORPHA:95430
X-Linked Intellectual Disability, Sutherland-Haan Type
Mandibular prognathia, Hypoplasia of the maxilla, Short stature, Decreased testicular size ORPHA:93950
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Central apnea, Respiratory insufficiency due to muscle weakness, Subdural hemorrhage, Respiratory... OMIM:618291
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Death in infancy, Hepatomegaly, Congestive heart failure, Respiratory failure, Arrhythmia, Intrau... ORPHA:1194
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor ORPHA:2786
Optic Atrophy 7 With Or Without Auditory Neuropathy
Hypertrophic cardiomyopathy, Pallor OMIM:612989
Acute Interstitial Pneumonia
Cyanosis, Crackles, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemia, Hypertens... ORPHA:79126
Combined Oxidative Phosphorylation Defect Type 23
Wolff-Parkinson-White syndrome, Cyanosis, Congestive heart failure, Severely reduced left ventric... ORPHA:444013
Familial Multiple Nevi Flammei
Pulmonary embolism, Venous insufficiency, Skin ulcer, Intracranial hemorrhage, Arteriovenous malf... ORPHA:624
Hereditary Pheochromocytoma-Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Flushing, Palpitations, Pallor, Positive regitine ... ORPHA:29072
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia, Pancreatic islet-cell hyperplasia, Pallor ORPHA:276608
Spondylometaphyseal Dysplasia, X-Linked
Respiratory failure, Respiratory insufficiency OMIM:313420
Primary Ciliary Dyskinesia
Neonatal respiratory distress, Productive cough, Asplenia, Wheezing, Hydrocephalus, Bronchiectasi... ORPHA:244
Hemoglobin D Disease
Splenomegaly, Pallor ORPHA:90039
Complete Atrioventricular Septal Defect
Crackles, Tachypnea, Atrioventricular block, Hepatomegaly, Abnormal EKG, Intercostal retractions,... ORPHA:1329
Congenital Myopathy 21 With Early Respiratory Failure
Dyspnea, Respiratory failure, Nocturnal hypoventilation, Intrauterine growth retardation, Hypertr... OMIM:620326
Acquired Methemoglobinemia
Respiratory distress, Tachycardia, Cyanosis, Dyspnea, Hypoxemia, Syncope, Palpitations, Arrhythmia ORPHA:464453
Congenital Neuronal Ceroid Lipofuscinosis
Neonatal respiratory distress, Apnea, Respiratory failure, Vascular granular osmiophilic material... ORPHA:168486
Atrial Septal Defect, Coronary Sinus Type
Bundle branch block, Cyanosis, Left-to-right shunt, Pneumonia, Abnormally loud pulmonic component... ORPHA:99104
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Tachycardia, Syncope, Palpitations, Pallor ORPHA:324575
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Congenital Muscular Dystrophy With Intellectual Disability
Respiratory failure, Respiratory insufficiency ORPHA:370968
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Central apnea, Respiratory distress, Redundant skin, Congestive heart failure, Hydrocephalus, Res... OMIM:616482
1P31P32 Microdeletion Syndrome
Intraventricular hemorrhage, Cutis marmorata, Moyamoya phenomenon ORPHA:401986
Pheochromocytoma--Islet Cell Tumor Syndrome
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... OMIM:171420
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Descending thoracic aorta aneurysm, Abnormal left ventricular function, Abdominal aortic aneurysm... ORPHA:91387
Benign Familial Infantile Epilepsy
Cyanosis, Apnea ORPHA:306
Primary Myelofibrosis
Abnormal bleeding, Hepatomegaly, Portal hypertension, Splenomegaly, Hepatosplenomegaly, Pallor, E... ORPHA:824
Brain Small Vessel Disease 2
Intracranial hemorrhage OMIM:614483
Tempi Syndrome
Transudative pleural effusion, Telangiectasia, Hypoxemia, Intracranial hemorrhage, Facial erythema ORPHA:284227
Autosomal Recessive Distal Osteolysis Syndrome
Hypoplasia of the maxilla, Short stature ORPHA:2776
Combined Oxidative Phosphorylation Deficiency 4
Intrauterine growth retardation, Respiratory failure, Death in infancy, Hepatomegaly OMIM:610678
Autoimmune Hemolytic Anemia, Warm Type
Tachycardia, Splenomegaly, Jaundice, Congestive heart failure, Pallor, Exertional dyspnea ORPHA:90033
Congenital Tricuspid Valve Dysplasia
Respiratory failure requiring assisted ventilation, Hepatomegaly, Cyanosis, Tricuspid regurgitati... ORPHA:555874
Congenital Fibrinogen Deficiency
Abnormal bleeding, Tachycardia, Cyanosis, Splenic rupture, Abnormal umbilical stump bleeding, Pro... ORPHA:335
Factor X Deficiency
Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,... OMIM:227600
Intellectual Developmental Disorder, Autosomal Dominant 70
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Hydrocephalus, Malar flattening, ... OMIM:620157
Acquired Von Willebrand Syndrome
Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxis, Gastrointestinal angiodysplasia, In... ORPHA:99147
Pyruvate Kinase Deficiency Of Red Cells
Hepatomegaly, Splenomegaly, Jaundice, Cholecystitis, Pallor, Intrauterine growth retardation, Cho... OMIM:266200
Drug-Induced Autoimmune Hemolytic Anemia
Tachycardia, Splenomegaly, Congestive heart failure, Pallor, Exertional dyspnea ORPHA:90037
Pulmonary Alveolar Proteinosis, Acquired
Cyanosis, Pneumonia, Dyspnea, Inspiratory crackles, Hypoxemia, Restrictive ventilatory defect, Co... OMIM:610910
Multiple Mitochondrial Dysfunctions Syndrome 3
Intrauterine growth retardation, Respiratory failure, Respiratory insufficiency OMIM:615330
Atrial Septal Defect, Ostium Primum Type
First degree atrioventricular block, Tachypnea, Atrioventricular block, Fixed splitting of the se... ORPHA:99106
Neurocutaneous Melanocytosis
Intracranial hemorrhage, Death in infancy, Meningocele ORPHA:2481
Central Hypoventilation Syndrome, Congenital, 3
Respiratory failure, Episodic hypertension, Apnea, Central hypoventilation OMIM:619483
Primary Angiitis Of The Central Nervous System
Intracranial hemorrhage, Stroke, Transient ischemic attack, Cerebral vasculitis ORPHA:140989
Frontonasal Dysplasia 1
Cranium bifidum occultum, Hypoplasia of the maxilla, Hypoplastic frontal sinuses, Anterior basal ... OMIM:136760
Menkes Disease
Intracranial hemorrhage, Intrauterine growth retardation, Cutis laxa, Death in childhood OMIM:309400
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Cyanosis, Tachycardia, Atrial fibri... ORPHA:137675
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Patent ductus arteriosus, Neonatal respiratory distress, Respiratory failure OMIM:616867
Parkes Weber Syndrome
Abnormal bleeding, Prominent superficial blood vessels, Peripheral arteriovenous fistula, Cerebra... ORPHA:90307
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Cyanosis, Apnea, Elevated circulating alanine aminotransferase concentration, Incre... OMIM:261680
Rheumatic Fever
Pericarditis, Sinusitis, Epistaxis, Myocarditis, Erythema, Respiratory insufficiency, Pallor, Arr... ORPHA:3099
Hellp Syndrome
Elevated hepatic transaminase, Poor wound healing, Cerebral hemorrhage, Prolonged prothrombin tim... ORPHA:244242
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Hepatomegaly, Elevated hepatic transaminase, Tachycardia, Intermittent hype... ORPHA:348
Abeta Amyloidosis, Dutch Type
Death in early adulthood, Stroke, Cerebral hemorrhage ORPHA:100006
Ciliary Dyskinesia, Primary, 5
Neonatal respiratory distress, Recurrent pneumonia, Bronchiectasis, Respiratory failure, Respirat... OMIM:608647
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Isolated Right Ventricular Hypoplasia
Cyanosis, Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failur... ORPHA:439
Triosephosphate Isomerase Deficiency
Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Splenom... OMIM:615512
Intermediate Nemaline Myopathy
Cardiomyopathy, Respiratory failure ORPHA:171433
Multiple Mitochondrial Dysfunctions Syndrome 1
Death in infancy, Respiratory insufficiency, Respiratory failure, Neonatal death, Pulmonary arter... OMIM:605711
Leigh Syndrome
Respiratory failure, Abnormal pattern of respiration, Respiratory insufficiency, Hepatocellular n... OMIM:256000
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Cyanosis, Sudden episodic apnea, Ventricular tachyca... ORPHA:159
Focal Facial Dermal Dysplasia Type Iv
Intracranial hemorrhage, Hydrocephalus ORPHA:398189
Peroxisome Biogenesis Disorder 12A (Zellweger)
Elevated hepatic transaminase, Prominence of the premaxilla, Short stature, Hydrocephalus, Growth... OMIM:614886
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated hepatic transaminase, Tachycardia, Heart block, Tachypnea, Capillary leak, Hypoxemia, Re... ORPHA:542323
Lowry-Maclean Syndrome
Delayed eruption of primary teeth, Micrognathia, Bilateral cryptorchidism, Abnormality of the abd... ORPHA:2409
Dental Anomalies And Short Stature
Mandibular prognathia, Hypoplasia of the maxilla, Short stature, Amelogenesis imperfecta OMIM:601216
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hypoplasia of the maxilla, Malar flattening, Hydrocephalus, Short stature OMIM:109120
Acys Amyloidosis
Death in early adulthood, Stroke, Cerebral hemorrhage ORPHA:100008
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hypoplasia of the maxilla, Malar flattening, Hydrocephalus ORPHA:93262
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Myelopathy, Cervical myelopathy, Respiratory failure, Bradypnea, Death in childhood OMIM:617186
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Hypoplasia of the maxilla, Short stature OMIM:156510
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Hepatomegaly, Jaundice, Pallor OMIM:613839
Hereditary Methemoglobinemia
Cyanosis, Exertional dyspnea ORPHA:621
Dominant Beta-Thalassemia
Hypersplenism, Dyspnea, Jaundice, Splenomegaly, High-output congestive heart failure, Dilated car... ORPHA:231226
Mitochondrial Phosphate Carrier Deficiency
Hypertrophic cardiomyopathy, Cyanosis, Respiratory insufficiency OMIM:610773
Neuropathy, Congenital Hypomyelinating, 3
Neonatal death, Respiratory failure, Respiratory insufficiency OMIM:618186
X-Linked Intellectual Disability, Porteous Type
Mandibular prognathia, Hypoplasia of the maxilla, Short stature ORPHA:93945
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Respiratory insufficiency due to muscle weakness, Dyspnea, Dilated cardiomyopathy, Respiratory fa... ORPHA:352447
Pyruvate Dehydrogenase E1-Alpha Deficiency
Respiratory failure, Apneic episodes precipitated by illness, fatigue, stress OMIM:312170
Cyclic Vomiting Syndrome
Cardiomyopathy, Pallor OMIM:500007
Pulmonary Capillary Hemangiomatosis
Cyanosis, Right ventricular failure, Diffuse alveolar hemorrhage, Dyspnea, Hemothorax, Hypoxemia,... ORPHA:199241
Autoimmune Pulmonary Alveolar Proteinosis
Cyanosis, Crackles, Dyspnea, Hypoxemia, Restrictive ventilatory defect, Cough, Decreased DLCO, Fo... ORPHA:747
Alg1-Cdg
Cardiomyopathy, Respiratory failure, Decreased liver function ORPHA:79327
Tibial Muscular Dystrophy
Cardiomyopathy, Respiratory failure ORPHA:609
Dravet Syndrome
Cyanotic episode, Pallor ORPHA:33069
Lethal Congenital Contracture Syndrome 5
Death in infancy, Subdural hemorrhage, Retinal hemorrhage, Respiratory insufficiency OMIM:615368
Mitochondrial Complex I Deficiency, Nuclear Type 18
Death in infancy, Respiratory failure OMIM:618240
Kaposiform Lymphangiomatosis
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Pancreatic cysts, Dyspnea, Splenomegaly, Hepat... ORPHA:464329
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Hypoplasia of the maxilla, Cryptorchidism, Short stature, Decreased testicular size ORPHA:85279
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Cholangitis, Pulmonary embolism, Intracranial hemorrhage, Pallor, Cough, Ra... ORPHA:3260
Hypophosphatasia, Infantile
Intracranial hemorrhage, Death in infancy, Stillbirth, Apnea OMIM:241500
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Respiratory failure requiring assisted ventilation, Hepatomegaly, Respirato... ORPHA:308552
Kyphoscoliotic Ehlers-Danlos Syndrome
Poor wound healing, Cerebral hemorrhage, Subdural hemorrhage, Arterial rupture, Umbilical hernia,... ORPHA:536545
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Tachypnea, Respiratory failure, Intrauterine growth retardation, Inspiratory stridor, Ventilator ... OMIM:604320
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Propionic Acidemia
Hepatomegaly, Apnea, Cerebellar hemorrhage, Tachypnea, Cardiomyopathy, Pancreatitis OMIM:606054
Boutonneuse Fever
Elevated hepatic transaminase, Respiratory failure, Vasculitis, Petechiae ORPHA:83313
Laryngeal Abductor Paralysis
Stridor, Cyanosis OMIM:150260
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Hypoplasia of the maxilla, Intrauterine growth retardation, Short stature OMIM:608154
Acquired Idiopathic Sideroblastic Anemia
Abnormal bleeding, Hepatomegaly, Splenomegaly, Congestive heart failure, Pallor ORPHA:75564
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Hepatomegaly, Peritonitis, Erythema, Vasculitis, Urticaria, Acrocyan... ORPHA:343
Joubert Syndrome 14
Encephalocele, Hydrocephalus, Meningocele, Intracranial hemorrhage, Hypertension OMIM:614424
Obesity-Hypoventilation Syndrome
Hypoventilation, Cyanosis OMIM:257500
Tetrasomy 5P
Respiratory distress, Cyanosis, Redundant neck skin, Congestive heart failure, Hydrocephalus, Hea... ORPHA:3309
Muscular Dystrophy, Duchenne Type
Hypoventilation, Abnormal EKG, Respiratory insufficiency due to muscle weakness, Congestive heart... OMIM:310200
Arterial Tortuosity Syndrome
Respiratory distress, Redundant skin, Myocardial infarction, Prematurely aged appearance, Pulmona... ORPHA:3342
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Respiratory failure OMIM:613435
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Dyspnea, Congestive heart failur... ORPHA:26791
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Hepatomegaly, Respiratory insufficiency due to muscle weakness, Hypertrophi... OMIM:220110
20P12.3 Microdeletion Syndrome
Hypoplasia of the maxilla, Malar flattening, Short stature ORPHA:261295
Meckel Syndrome 14
Occipital encephalocele, Cyanosis, Tricuspid regurgitation, Pneumothorax, Cardiorespiratory arres... OMIM:619879
Methylmalonic Acidemia With Homocystinuria Type Cblf
Intraventricular hemorrhage, Intrauterine growth retardation, Reduced number of intrahepatic bile... ORPHA:79284
Beta-Thalassemia Major
Hepatomegaly, Hypersplenism, Dyspnea, Jaundice, Splenomegaly, High-output congestive heart failur... ORPHA:231214
Kcnq2-Related Epileptic Encephalopathy
Apnea, Pallor, Facial erythema ORPHA:439218
Letterer-Siwe Disease
Dyspnea, Jaundice, Pallor, Hepatosplenomegaly OMIM:246400
Pulmonary Alveolar Microlithiasis
Hepatomegaly, Cyanosis, Right ventricular failure, Increased pulmonary vascular resistance, Nonpr... ORPHA:60025
Vascular Hyalinosis
Premature graying of hair, Vascular dilatation, Hematochezia, Subarachnoid hemorrhage OMIM:277175
Split-Hand/Foot Malformation 3
Microretrognathia, Hypoplasia of the maxilla OMIM:246560
Myopathic Ehlers-Danlos Syndrome
Pallor, Poor wound healing ORPHA:536516
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hepatomegaly, Pallor, Death in childhood OMIM:246450
Mirage Syndrome
Patent ductus arteriosus, Hydrocephalus, Intracranial hemorrhage, Aspiration pneumonia, Intrauter... OMIM:617053
Myelofibrosis
Splenomegaly, Pallor, Purpura OMIM:254450
Autoinflammatory Disease, Systemic, X-Linked
Cerebral hemorrhage, Hepatosplenomegaly OMIM:301081
Neuromyelitis Optica Spectrum Disorder
Respiratory failure ORPHA:71211
Mitochondrial Trifunctional Protein Deficiency 1
Elevated hepatic transaminase, Elevated circulating aspartate aminotransferase concentration, Con... OMIM:609015
Pontocerebellar Hypoplasia Type 1
Respiratory failure, Congenital laryngeal stridor ORPHA:2254
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Intracranial hemorrhage, Cough, Ecchymosis, Internal hemorrhage, Hypotensio... ORPHA:340
Congenital Muscular Dystrophy, Ullrich Type
Respiratory failure ORPHA:75840
Eosinophilic Granulomatosis With Polyangiitis
Sinusitis, Cutis marmorata, Recurrent intrapulmonary hemorrhage, Myocardial infarction, Transient... ORPHA:183
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Cyanosis, Left-to-right shunt, Congestive heart failure, Patent ductus arteriosus, Left ventricul... ORPHA:99050
Anemia, Hypochromic Microcytic, With Iron Overload 2
Splenomegaly, Hepatomegaly, Pallor, Elevated hepatic iron concentration OMIM:615234
Axenfeld-Rieger Syndrome, Type 2
Mandibular prognathia, Hypoplasia of the maxilla, Cryptorchidism, Hydrocephalus, Umbilical hernia OMIM:601499
Criss-Cross Heart
Cyanosis, Tricuspid stenosis, Respiratory insufficiency, Transposition of the great arteries, Pul... ORPHA:1461
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Pancreatic islet-cell hyperplasia, Pall... ORPHA:263455
Senior-Loken Syndrome 8
Hepatic cysts, Pancreatic cysts, Pallor, Intrahepatic bile duct dilatation, Vascular dilatation OMIM:616307
Pheochromocytoma
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Renal artery s... OMIM:171300
Spondylospinal Thoracic Dysostosis
Hypoplasia of the maxilla, Micrognathia OMIM:601809
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Pallor, Cholelithiasis OMIM:194380
Absence Of The Pulmonary Artery
Abnormal coronary artery morphology, Nonproductive cough, Abnormal EKG, Patent ductus arteriosus,... ORPHA:980
Scedosporiosis
Bronchial breath sound, Sinusitis, Pericarditis, Pneumonia, Abnormal respiratory system physiolog... ORPHA:449280
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Restrictive ventilatory defect, Respiratory failure OMIM:606612
Wiskott-Aldrich Syndrome
Prolonged bleeding time, Sinusitis, Recurrent intrapulmonary hemorrhage, Epistaxis, Sudden cardia... ORPHA:906
3-Hydroxy-3-Methylglutaric Aciduria
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Apnea, Cardiac arrest, Jaundice,... ORPHA:20
Mixed-Type Autoimmune Hemolytic Anemia
Tachycardia, Pallor, Exertional dyspnea ORPHA:90036
Benign Familial Neonatal Epilepsy
Circumoral cyanosis, Apnea ORPHA:1949
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Mandibular prognathia, Hypoplasia of the maxilla ORPHA:397973
Double Outlet Right Ventricle
Tachycardia, Cyanosis, Tachypnea, Double outlet right ventricle, Heart murmur, Coarctation of aor... ORPHA:3426
Lmna-Related Cardiocutaneous Progeria Syndrome
Congestive heart failure, Emphysema, Premature graying of hair, Abnormal intrahepatic bile duct m... ORPHA:363618
Restrictive Dermopathy 2
Respiratory distress, Intrauterine growth retardation, Cyanosis OMIM:619793
Cold Agglutinin Disease
Splenomegaly, Hepatomegaly, Pallor ORPHA:56425
Hereditary Spherocytosis
Hepatomegaly, Restrictive cardiomyopathy, Splenomegaly, Jaundice, Skin ulcer, Pallor, Cholelithiasis ORPHA:822
Encephalopathy, Ethylmalonic
Death in infancy, Acrocyanosis, Petechiae OMIM:602473
Pseudohermaphroditism, Female, With Skeletal Anomalies
Hypoplasia of the maxilla, Short mandibular condyles OMIM:264270
Crouzon Syndrome
Hypoplasia of the maxilla, Hydrocephalus ORPHA:207
Choanal Atresia
Respiratory distress, Cyanosis, Upper airway obstruction, Tracheomalacia, Chronic sinusitis, Abno... ORPHA:137914
Cleft Larynx, Posterior
Aspiration, Cyanosis OMIM:215800
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress, Hepatomegaly, Cerebellar hemorrhage, Cardiomyopathy, Pancreatitis OMIM:251000
Congenital Dyserythropoietic Anemia Type Iii
Elevated hepatic transaminase, Post-partum hemorrhage, Melena, Oral cavity bleeding, Gingival ble... ORPHA:98870
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Subarachnoid hemorrhage, Resp... OMIM:232300
Osteogenesis Imperfecta
Aortic regurgitation, Neonatal respiratory distress, Cerebral hemorrhage, Hydrocephalus, Noncommu... ORPHA:666
Mitochondrial Trifunctional Protein Deficiency
Tricuspid regurgitation, Congestive heart failure, Cholestasis, Respiratory insufficiency, Cardio... ORPHA:746
Combined Oxidative Phosphorylation Deficiency 25
Intraventricular hemorrhage, Aspiration pneumonia OMIM:616430
Hypoadrenocorticism, Familial
Cyanosis, Apnea OMIM:240200
Tay-Sachs Disease
Aspiration, Cherry red spot of the macula, Pallor OMIM:272800
Maxillonasal Dysplasia
Mandibular prognathia, Hypoplasia of the maxilla ORPHA:1248
Retinitis Pigmentosa 51
Pallor OMIM:613464
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Respiratory failure, Tachypnea, Death in childhood OMIM:615838
Autoerythrocyte Sensitization Syndrome
Gastrointestinal hemorrhage, Epistaxis, Intracranial hemorrhage, Oral cavity bleeding, Menorrhagi... ORPHA:324636
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Reduced vital capacity, Respiratory failure, Nocturnal hypoventilation OMIM:603689
Aarskog-Scott Syndrome
Delayed eruption of teeth, Short stature, Hypoplasia of the maxilla, Cryptorchidism, Umbilical he... ORPHA:915
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Cyanosis, Apnea, Prolonged QRS complex, Left axis deviation, Congestive hea... OMIM:261740
Aortic Arch Interruption
Respiratory distress, Tachypnea, Aortopulmonary window, Absent pulse, Tricuspid regurgitation, Pa... ORPHA:2299
Aicardi-Goutieres Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Erythema, Vasculitis, Cardiomyopathy, ... OMIM:225750
Irida Syndrome
Intrahepatic cholestasis, Pallor ORPHA:209981
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Cyanosis, Overriding aorta, Patent ductus arteriosus, Pulmonic stenosis, Double outlet right vent... ORPHA:3304
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Intraventricular hemorrhage, Hydrocephalus OMIM:613603
Mitochondrial Complex I Deficiency, Nuclear Type 10
Respiratory failure, Apnea, Central hypoventilation OMIM:618233
Eisenmenger Syndrome
Respiratory distress, Ventricular tachycardia, Aortopulmonary window, Abnormality of the liver, S... ORPHA:97214
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus, Respiratory failure ORPHA:1861
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Respiratory failure OMIM:613954
Peroxisome Biogenesis Disorder 4A (Zellweger)
Hepatomegaly, Respiratory failure, Death in infancy OMIM:614862
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2759
Extracranial Carotid Artery Aneurysm
Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Hypertension, Stroke, Total anomalous pulm... ORPHA:494424
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Intrauterine growth retardation, Cyanotic episode ORPHA:284417
Spastic Paraplegia 16, X-Linked
Hypoplasia of the maxilla OMIM:300266
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Mandibular prognathia, Hypoplasia of the maxilla OMIM:300676
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Asplenia, Aqueductal stenosis, Biliary atresia, Dextrotransposition of the ... OMIM:306955
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Cerebral vasculitis, Subarachnoid hemorrhage, Asthma, Recurrent pneumonia, Bronchiectasis, Recurr... OMIM:243700
Elliptocytosis 1
Splenomegaly, Jaundice, Pallor OMIM:611804
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Telangiectasia of the skin, Myocardial infarction, Peritonitis, Resp... ORPHA:679
Cardiac Valvular Dysplasia 2
Aortic regurgitation, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, L... OMIM:620067
Nephronophthisis 2
Hypertension, Respiratory failure, Pulmonary insufficiency, Respiratory insufficiency OMIM:602088
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Pallor, Hepatosplenomegaly OMIM:611590
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Orthopnea, Hepatomegaly, Transient ischemic attack, Thoracic aortic aneurys... ORPHA:365
Combined Oxidative Phosphorylation Deficiency 3
Hepatomegaly, Death in infancy, Dyspnea, Patent ductus arteriosus, Dilated cardiomyopathy, Concen... OMIM:610505
Stormorken Syndrome
Abnormal bleeding, Epistaxis, Subarachnoid hemorrhage, Asplenia, Stroke-like episode, Hypoplastic... OMIM:185070
Mercury Poisoning
Respiratory distress, Tachycardia, Dyspnea, Hypertension, Respiratory failure, Interstitial pneum... ORPHA:330021
Multicentric Carpotarsal Osteolysis Syndrome
Hypoplasia of the maxilla, Micrognathia OMIM:166300
3-Methylglutaconic Aciduria, Type Viii
Death in infancy, Apnea, Jaundice, Patent ductus arteriosus, Hypopnea, Respiratory failure, Brady... OMIM:617248
Beta-Ketothiolase Deficiency
Hepatomegaly, Tachypnea, Hypertension, Pallor, Hypotension, Cough ORPHA:134
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Cyanosis, Exertional dyspnea OMIM:250800
Lymphatic Malformation 6
Genital edema, Short stature, Nonimmune hydrops fetalis, Edema, Micrognathia, Facial edema, Splen... OMIM:616843
Keipert Syndrome
Hypoplasia of the maxilla, Short stature ORPHA:2662
Familial Hyperaldosteronism Type I
Intracranial hemorrhage, Hypertension, Epistaxis ORPHA:403
Craniofacial-Deafness-Hand Syndrome
Hypoplasia of the maxilla ORPHA:1529
Cortical Dysplasia, Complex, With Other Brain Malformations 15
Hypoplasia of the maxilla OMIM:618737
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Restrictive ventilatory defect, Pallor OMIM:600462
Combined Oxidative Phosphorylation Deficiency 37
Elevated hepatic transaminase, Respiratory insufficiency, Respiratory failure, Prolonged prothrom... OMIM:618329
S-Adenosylhomocysteine Hydrolase Deficiency
Elevated hepatic transaminase, Cardiomyopathy, Respiratory failure, Abnormality of the liver, Pro... ORPHA:88618
Koolen-De Vries Syndrome Due To A Point Mutation
Spina bifida, Intraventricular hemorrhage, Hydrocephalus, Ectodermal dysplasia, Cardiomyopathy, P... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Spina bifida, Intraventricular hemorrhage, Hydrocephalus, Ectodermal dysplasia, Cardiomyopathy, P... ORPHA:363958
Lymphangiectasia, Pulmonary, Congenital
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Mild postnatal g... OMIM:265300
Pycnodysostosis
Obtuse angle of mandible, Rhizomelia, Delayed eruption of primary teeth, Micrognathia, Hypoplasia... ORPHA:763
Kallmann Syndrome-Heart Disease Syndrome
Aortic regurgitation, Cyanosis, Anomalous origin of left coronary artery from the pulmonary arter... ORPHA:2326
Acyl-Coa Dehydrogenase 9 Deficiency
Acute hepatic failure, Elevated hepatic transaminase, Sudden cardiac death, Congestive heart fail... ORPHA:99901
Kagami-Ogata Syndrome
Hepatomegaly, Polyhydramnios, Micrognathia, Hypoplasia of the maxilla, Splenomegaly, Retrognathia OMIM:608149
Cohen Syndrome
Short stature, Micrognathia, Hypoplasia of the maxilla, Leukopenia, Neutropenia, Macrodontia of p... OMIM:216550
Classic Homocystinuria
Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Pulmonary embolism, Urt... ORPHA:394
Spinocerebellar Ataxia Type 1
Respiratory failure ORPHA:98755
Frontorhiny
Encephalocele, Hypoplasia of the maxilla, Hypoplastic frontal sinuses, Basal encephalocele, Crani... ORPHA:391474
Familial Hyperaldosteronism Type Ii
Intracranial hemorrhage, Hypertension, Epistaxis ORPHA:404
Pde4D Haploinsufficiency Syndrome
Mandibular prognathia, Abnormal dental enamel morphology, Micrognathia, Hypoplasia of the maxilla... ORPHA:439822
Metatropic Dysplasia
Respiratory failure, Respiratory insufficiency OMIM:156530
Malan Syndrome
Mandibular prognathia, Advanced eruption of teeth, Hyperplasia of the premaxilla, Retrognathia OMIM:614753
Meningioma
Cerebral hemorrhage, Progressive pulmonary function impairment, Hydrocephalus, Abnormality on pul... ORPHA:2495
Meier-Gorlin Syndrome 4
Short stature, Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Birth length less than 3r... OMIM:613804
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Abnormal left ventricular function, Cholecystitis, Ecchymosis, Internal hemo... ORPHA:99827
Congenital Myasthenic Syndrome
Cyanosis, Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due to muscle... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Cyanosis, Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due to muscle... ORPHA:98914
Cerebral Visual Impairment
Intracranial hemorrhage, Hydrocephalus, Ischemic stroke ORPHA:447788
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... ORPHA:731
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Splenomegaly, Hydrocephalus, Hepatosplenomegaly, Respiratory failure, Stillbirth, H... OMIM:259720
Menkes Disease
Gastrointestinal hemorrhage, Venous insufficiency, Arterial stenosis, Intracranial hemorrhage, Sp... ORPHA:565
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Hypertension, Epistaxis, Intracranial hemorrhage ORPHA:251274
Lujan-Fryns Syndrome
Macroorchidism, Hypoplasia of the maxilla, Micrognathia ORPHA:776
Aregenerative Anemia
Abnormal bleeding, Dyspnea, Bruising susceptibility, Pallor ORPHA:101096
Tarp Syndrome
Subdural hemorrhage, Tetralogy of Fallot, Neonatal death, Intrauterine growth retardation, Hepati... OMIM:311900
Proximal Spinal Muscular Atrophy
Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency due to muscle weakness,... ORPHA:70
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cyanosis ORPHA:391428
Sandestig-Stefanova Syndrome
Intrauterine growth retardation, Respiratory failure OMIM:618804
Acrodysostosis 1 With Or Without Hormone Resistance
Mandibular prognathia, Delayed eruption of teeth, Mild postnatal growth retardation, Short statur... OMIM:101800
Carpenter Syndrome 1
Short stature, Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Persistence of primary te... OMIM:201000
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... OMIM:617300
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Epistaxis, Intracranial hemorrhage, Hypertension, Second degree atrioventricular block, Pulmonary... ORPHA:369929
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Respiratory failure OMIM:620166
Mandibulofacial Dysostosis With Alopecia
Hypoplasia of the maxilla, Trismus, Delayed eruption of primary teeth, Micrognathia OMIM:616367
Congenital Myopathy 10B, Mild Variant
Reduced forced vital capacity, Respiratory failure, Recurrent pneumonia OMIM:620249
Stickler Syndrome Type 1
Hypoplasia of the maxilla ORPHA:90653
Cleft Lip/Palate
Agenesis of lateral incisor, Hypoplasia of the maxilla, Dental malocclusion, Abnormality of denta... ORPHA:199306
3-Methylglutaconic Aciduria Type 7
Elevated hepatic transaminase, Pneumothorax, Cardiomyopathy, Respiratory failure, Hepatic steatosis ORPHA:445038
Hypomandibular Faciocranial Dysostosis
Hypoplasia of the maxilla, Malar flattening, Micrognathia OMIM:241310
Dislocation Of The Hip-Dysmorphism Syndrome
Malar flattening, Prominence of the premaxilla ORPHA:2412
Truncus Arteriosus
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... ORPHA:3384
Lethal Acantholytic Erosive Disorder
Impaired myocardial contractility, Respiratory failure, Hypovolemic shock, Cardiomyopathy, Intrau... ORPHA:158687
Hydranencephaly
Abnormal internal carotid artery morphology, Dilatation of the ventricular cavity, Abnormal cereb... ORPHA:2177
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Mixed total anomalous pulmonary venous connection, Apneic episodes in infan... ORPHA:99125
Jackson-Weiss Syndrome
Mandibular prognathia, Hypoplasia of the maxilla ORPHA:1540
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Respiratory failure OMIM:616505
Systemic Mastocytosis With Associated Hematologic Neoplasm
Hepatomegaly, Tachycardia, Splenomegaly, Urticaria, Syncope, Pallor, Hypotension, Flushing ORPHA:98849
Listeriosis
Respiratory distress, Pericarditis, Liver abscess, Miscarriage, Pneumonia, Congestive heart failu... ORPHA:533
Hereditary Motor And Sensory Neuropathy, Type Iic
Stridor, Respiratory failure, Intercostal muscle weakness OMIM:606071
Mandibulofacial Dysostosis-Microcephaly Syndrome
Hypoplasia of the maxilla, Malar flattening, Short stature, Micrognathia ORPHA:79113
Ethylmalonic Encephalopathy
Acrocyanosis, Petechiae ORPHA:51188
Acute Liver Failure
Elevated hepatic transaminase, Abnormal bleeding, Gastrointestinal hemorrhage, Shock, Jaundice, A... ORPHA:90062
Lethal Congenital Contracture Syndrome 2
Respiratory failure, Dilated cardiomyopathy OMIM:607598
Distal Xq28 Microduplication Syndrome
Hypoplasia of the maxilla, Predominantly lower limb lymphedema, Short stature, Upper eyelid edema ORPHA:293939
Esophageal Atresia
Respiratory distress, Cyanosis, Episodic respiratory distress, Chronic pulmonary obstruction, Coa... ORPHA:1199
Mitochondrial Complex I Deficiency, Nuclear Type 1
Hepatomegaly, Death in infancy, Cyanosis, Apnea, Splenomegaly, Concentric hypertrophic cardiomyop... OMIM:252010
Melanocytic Nevus Syndrome, Congenital
Prominence of the premaxilla OMIM:137550
Refractory Anemia With Excess Blasts
Abnormal bleeding, Anemic pallor, Retinal hemorrhage, Palpitations, Exertional dyspnea ORPHA:86839
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Pfeiffer Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Hydrocephalus OMIM:101600
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Splenomegaly, Jaundice, Pallor, Prolonged neonatal jaundice OMIM:300908
Structural Heart Defects And Renal Anomalies Syndrome
Death in infancy, Cyanosis, Partial anomalous pulmonary venous return, Right aortic arch, Interru... OMIM:617478
Greenberg Dysplasia
Hepatomegaly, Rhizomelia, Nonimmune hydrops fetalis, Polyhydramnios, Micrognathia, Hypoplasia of ... OMIM:215140
Atelosteogenesis, Type Iii
Hypoplasia of the maxilla, Malar flattening, Rhizomelia, Micrognathia OMIM:108721
Recon Progeroid Syndrome
Prominence of the premaxilla, Short stature, Anemia, Growth delay, Delayed eruption of permanent ... OMIM:620370
Isovaleric Acidemia
Cerebellar hemorrhage OMIM:243500
Amyotrophic Lateral Sclerosis
Dyspnea, Respiratory failure, Abnormal respiratory system physiology ORPHA:803
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Pulmonary arterial hypertension, Respiratory failure, Respiratory insufficiency OMIM:613845
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Acrocyanosis, Atrioventricular block, Bradycardia OMIM:614407
Mohr Syndrome
Short stature, Micrognathia, Hypoplasia of the maxilla, Hydrocephalus, Agenesis of central inciso... OMIM:252100
Craniorachischisis
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism ORPHA:63260
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Apnea, Splenomegaly, Pulmonary artery stenosis, Hydrocephalus, Pallor, Chronic rhin... ORPHA:667
Fanconi Anemia, Complementation Group I
Intrauterine growth retardation, Pallor OMIM:609053
Crouzon Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Hydrocephalus OMIM:123500
Alternating Hemiplegia Of Childhood
Respiratory distress, Apnea, Cardiac conduction abnormality, Abnormal T-wave, Cardiomyopathy, Pal... ORPHA:2131
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Respiratory distress, Pulmonary embolism, Jaundice, Dilated cardiomyopathy, Subdural hemorrhage, ... ORPHA:79282
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Intracranial hemorrhage, Hypertension, Palpitations, Abnormal T-wave ORPHA:231625
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Respiratory failure OMIM:617895
Pearson Marrow-Pancreas Syndrome
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Erythema, Macronodular cirrhosi... OMIM:557000
Fibrodysplasia Ossificans Progressiva
Respiratory failure, Respiratory insufficiency OMIM:135100
Congenital Multicore Myopathy With External Ophthalmoplegia
Abnormal respiratory system physiology, Respiratory failure, Pneumonia ORPHA:98905
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Redundant neck skin, Large placenta, Respiratory failure, Umbilical hernia, Intrauterine growth r... ORPHA:254528
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Tachycardia, Cyanosis, Atrial fibrillation, Congestive heart failur... ORPHA:31826
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2707
Alg3-Cdg
Neural tube defect, Decreased liver function, Coarctation of the descending aortic arch, Cardiomy... ORPHA:79321
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Respiratory failure, Death in childhood OMIM:619847
Joubert Syndrome 21
Encephalocele, Occipital encephalocele, Apnea, Dyspnea, Splenomegaly, Respiratory failure, Chroni... OMIM:615636
Rajab Interstitial Lung Disease With Brain Calcifications 1
Elevated hepatic transaminase, Portal hypertension, Tachypnea, Respiratory insufficiency, Cholest... OMIM:613658
Oculodentodigital Dysplasia, Autosomal Recessive
Delayed eruption of teeth, Short stature, Micrognathia, Hypoplasia of the maxilla, Dental maloccl... OMIM:257850
Cone-Rod Dystrophy 8
Retinal arteriolar constriction, Pallor OMIM:605549
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Mandibular prognathia, Short stature, Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Ch... OMIM:300534
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Patent ductus arteriosus, Hydrocephalus, Respiratory insufficiency, Heart mur... ORPHA:163979
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Elevated hepatic transaminase, Hepatomegaly, Pallor, Hepatosplenomegaly ORPHA:331206
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Patent ductus arteriosus, Intrauterine growth retardation, Respiratory failure OMIM:620327
Hereditary Bullous Dystrophy, Macular Type
Acrocyanosis, Pneumonia, Heart murmur ORPHA:1867
Acrodysostosis
Mandibular prognathia, Delayed eruption of teeth, Short stature, Hypoplasia of the maxilla, Crypt... ORPHA:950
Childhood Absence Epilepsy
Pallor, Hyperventilation ORPHA:64280
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Exencephaly ORPHA:2211
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Hypopnea,... OMIM:618426
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Hypoplasia of the maxilla OMIM:218000
Hutchinson-Gilford Progeria Syndrome
Prominent superficial blood vessels, Myocardial infarction, Intracranial hemorrhage, Generalized ... ORPHA:740
Meier-Gorlin Syndrome 5
Short stature, Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Birth length less than 3r... OMIM:613805
Distal Limb Deficiencies-Micrognathia Syndrome
Hypoplasia of the maxilla, Cryptorchidism, Microretrognathia, Short stature ORPHA:1307
Geleophysic Dysplasia 3
Hepatomegaly, Pneumonia, Dyspnea, Respiratory failure, Mitral regurgitation OMIM:617809
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Respiratory insufficiency, Pulmonary arterial hypertension, Respiratory failure,... ORPHA:258
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Elevated hepatic transaminase, Elevated hepatic iron concentration, Pallor, Hepatosplenomegaly ORPHA:300298
Andersen Cardiodysrhythmic Periodic Paralysis
Short stature, Short mandibular rami, Persistence of primary teeth, Hypoplasia of the maxilla, Mi... OMIM:170390
Heterotaxy, Visceral, 7, Autosomal
Cyanosis, Right aortic arch, Pulmonary artery hypoplasia, Interrupted inferior vena cava with azy... OMIM:616749
Infantile Krabbe Disease
Respiratory distress, Cherry red spot of the macula, Respiratory failure, Abnormal heart rate var... ORPHA:206436
Bannayan-Riley-Ruvalcaba Syndrome
Angina pectoris, Cutis marmorata, Telangiectasia, Intracranial hemorrhage, Arteriovenous malforma... ORPHA:109
Microcephaly-Capillary Malformation Syndrome
Hypoplasia of the maxilla, Short stature OMIM:614261
Osteogenesis Imperfecta, Type Xvii
Intraventricular hemorrhage OMIM:616507
Dyskeratosis Congenita
Neoplasm of the pancreas, Hepatomegaly, Short stature, Abnormality of neutrophils, Hypoplasia of ... ORPHA:1775
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Microvesicular hepatic steatosis, Tachypnea, Respiratory insufficiency, Hepatocellu... OMIM:618278
Leigh Syndrome
Congestive heart failure, Respiratory failure, Intrauterine growth retardation, Hypertrophic card... ORPHA:506
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cyanosis, Apnea OMIM:619580
Congenital Tracheal Stenosis
Respiratory distress, Cyanosis, Ascending aorta hypoplasia, Neonatal asphyxia, Wheezing, Dyspnea,... ORPHA:141127
Aarskog-Scott Syndrome
Short stature, Bilateral cryptorchidism, Cryptorchidism, Hypoplasia of the maxilla, Delayed puber... OMIM:305400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Respiratory failure, Hydrocephalus OMIM:616538
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Pancreatic islet cell adenoma, Myocardial infarction, Pancreatic cysts,... ORPHA:892
Dysostosis, Stanescu Type
Short stature, Abnormal dental enamel morphology, Hypoplasia of the maxilla, Carious teeth, Hypop... ORPHA:1798
Holoprosencephaly 9
Short stature, Hypoplasia of the premaxilla, Hypoplasia of the maxilla, Cryptorchidism, Hydroceph... OMIM:610829
Retinitis Pigmentosa 75
Pallor OMIM:617023
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Microretrognathia, Hypoplasia of the maxilla ORPHA:228396
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Dilation of Virchow-Robin spaces, Cerebral hemorrhage, Retinal arteriolar tortuosity, Hydrocephal... OMIM:175780
Brain-Lung-Thyroid Syndrome
Respiratory distress, Neonatal respiratory distress, Asthma, Recurrent pneumonia, Respiratory fai... ORPHA:209905
Severe Congenital Nemaline Myopathy
Respiratory failure ORPHA:171430
Goodpasture Syndrome
Cyanosis, Crackles, Increased DLCO, Tachypnea, Restrictive ventilatory defect, Pallor, Pulmonary ... OMIM:233450
Waardenburg Syndrome Type 3
Tracheomalacia, Acrocyanosis ORPHA:896
Familial Cerebral Cavernous Malformation
Venous malformation, Vascular skin abnormality, Cerebral hemorrhage ORPHA:221061
Cohen Syndrome
Short stature, Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Hypoplasia of the zygomat... ORPHA:193
Temtamy Preaxial Brachydactyly Syndrome
Short stature, Micrognathia, Hypoplasia of the maxilla, Talon cusp, Growth delay ORPHA:363417
Cleft Velum
Hypoplasia of the maxilla ORPHA:99772
Gorlin-Chaudhry-Moss Syndrome
Hypoplasia of the maxilla, Umbilical hernia, Short stature ORPHA:2095
Poliomyelitis
Respiratory failure requiring assisted ventilation, Hypertension, Respiratory failure, Hypovolemi... ORPHA:2912
Nasopalpebral Lipoma-Coloboma Syndrome
Hypoplasia of the maxilla OMIM:167730
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Marshall Syndrome
Short stature, Micrognathia, Hypoplasia of the maxilla, Hypoplastic frontal sinuses, Hypoplasia o... ORPHA:560
Glutaryl-Coa Dehydrogenase Deficiency
Communicating hydrocephalus, Subdural hemorrhage, Retinal hemorrhage ORPHA:25
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Hypoplasia of the premaxilla, Polyhydramnios, Micrognathia, Cryptorchidism, Hydroc... ORPHA:2166
Dermatomyositis
Pericarditis, Telangiectasia of the skin, Myocardial infarction, Myocarditis, Erythema, Vasculiti... ORPHA:221
Abetalipoproteinemia
Elevated hepatic transaminase, Hepatomegaly, Abnormal bleeding, Congestive heart failure, Respira... ORPHA:14
Fumarase Deficiency
Reduced subcutaneous adipose tissue, Intrahepatic cholestasis, Hepatic failure, Pallor OMIM:606812
Anemia, Sideroblastic, 1
Anemic pallor OMIM:300751
Cockayne Syndrome Type 3
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Subdural hemorrhage, Retinal hemorrhag... ORPHA:90324
Medulloblastoma
Elevated hepatic transaminase, Cerebellar hemorrhage, Hydrocephalus ORPHA:616
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hepatomegaly, Redundant neck skin, Miscarriage, Large placenta, Pulmonary artery stenosis, Abnorm... ORPHA:96334
Imerslund-Gräsbeck Syndrome
Abnormal bleeding, Tachycardia, Pallor ORPHA:35858
Isolated Posterior Meningocele
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Hydromyelia, Occipital meni... ORPHA:268810
Fucosidosis
Hepatomegaly, Acrocyanosis, Vascular skin abnormality, Abnormality of the gallbladder ORPHA:349
Apert Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Hydrocephalus, Delayed eruption of teeth ORPHA:87
Acrofacial Dysostosis, Cincinnati Type
Short stature, Micrognathia, Hypoplasia of the maxilla, Retrognathia, Aplastic zygomatic arch OMIM:616462
Axenfeld-Rieger Syndrome
Hypoplasia of the maxilla, Growth delay ORPHA:782
Treacher-Collins Syndrome
Encephalocele, Branchial fistula, Abnormal dental enamel morphology, Micrognathia, Hypoplasia of ... ORPHA:861
Tuberous Sclerosis Complex
Respiratory distress, Noncommunicating hydrocephalus, Aortic aneurysm, Hypertension, Respiratory ... ORPHA:805
Double Outlet Left Ventricle
Cyanosis, Abnormal coronary artery course, Pulmonary artery stenosis, Patent ductus arteriosus, T... ORPHA:3427
Nager Syndrome
Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Micrognathia ORPHA:245
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Respiratory failure requiring assisted ventilation, Respiratory failure, Recurrent pneumonia ORPHA:496641
Arachnoid Cyst
Encephalocele, Hydrocephalus, Holoprosencephaly, Subarachnoid hemorrhage ORPHA:2356
Degcags Syndrome
Hepatomegaly, Tachycardia, Pneumonia, Asthma, Patent ductus arteriosus, Cholestasis, Hepatospleno... OMIM:619488
Shprintzen-Goldberg Craniosynostosis Syndrome
Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Hydrocephalus, Dental malocclusion, Umbi... OMIM:182212
Shprintzen-Goldberg Syndrome
Communicating hydrocephalus, Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Umbilical h... ORPHA:2462
Nocardiosis
Respiratory distress, Pericarditis, Liver abscess, Pneumonia, Productive cough, Nonproductive cou... ORPHA:31204
Myasthenia Gravis
Raynaud phenomenon, Dyspnea, Acrocyanosis, Hepatitis ORPHA:589
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
Radio-Renal Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion ORPHA:3015
Glycine Encephalopathy With Normal Serum Glycine
Respiratory failure, Apnea OMIM:617301
Bloom Syndrome
Pneumonia, Chronic pulmonary obstruction, Telangiectasia, Respiratory failure, Rhinitis, Intraute... ORPHA:125
Cardioacrofacial Dysplasia 1
Hypoplasia of the maxilla OMIM:619142
Cerebrofacioarticular Syndrome
Hypoplasia of the maxilla, Lymphedema, Short stature, Micrognathia ORPHA:314679
Myopathy, Mitochondrial, And Ataxia
Pallor OMIM:617675
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac... ORPHA:216694
Myasthenic Syndrome, Congenital, 21, Presynaptic
Cyanosis, Apnea, Respiratory insufficiency OMIM:617239
Sheehan Syndrome
Orthostatic hypotension, Palpitations, Bradycardia, Pallor, Dry skin ORPHA:91355
7Q31 Microdeletion Syndrome
Hypoplasia of the maxilla, Intrauterine growth retardation, Postnatal growth retardation ORPHA:251061
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Hypoplasia of the maxilla ORPHA:481152
8Q22.1 Microdeletion Syndrome
Hypoplasia of the maxilla, Cryptorchidism ORPHA:178303
Andersen-Tawil Syndrome
Abnormality of dental color, Short stature, Persistence of primary teeth, Hypoplasia of the maxil... ORPHA:37553
Tarp Syndrome
Cyanosis, Apnea, Intrauterine growth retardation, Tetralogy of Fallot, Persistent left superior v... ORPHA:2886
Sacral Defect With Anterior Meningocele
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract, Hydromyelia OMIM:600145
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Hepatomegaly, Death in infancy, Microvesicular hepatic steatosis, Patent ductus arteriosus, Respi... OMIM:300868
Non-Functioning Pituitary Adenoma
Pallor, Hypotension ORPHA:91349
Plummer-Vinson Syndrome
Pallor ORPHA:54028
Coffin-Lowry Syndrome
Delayed eruption of teeth, Craniofacial hyperostosis, Short stature, Hypoplasia of the maxilla, A... ORPHA:192
Adenohypophysitis
Orthostatic hypotension, Pallor ORPHA:95512
Brachytelephalangic Chondrodysplasia Punctata
Proportionate short stature, Hypoplasia of the maxilla, Postnatal growth retardation, Increased n... ORPHA:79345
Pelizaeus-Merzbacher Disease, Connatal Form
Respiratory failure ORPHA:280210
Pituitary Apoplexy
Hypertension, Pallor, Hypotension ORPHA:95613
Unilateral Polymicrogyria
Cyanosis, Apnea, Epistaxis, Pulmonary arteriovenous malformation, Stroke ORPHA:268943
Panhypophysitis
Orthostatic hypotension, Pallor ORPHA:95513
Geroderma Osteodysplasticum
Mandibular prognathia, Hypoplasia of the maxilla, Severe short stature, Malar flattening OMIM:231070
Meier-Gorlin Syndrome 3
Microretrognathia, Short stature, Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Birth ... OMIM:613803
Martsolf Syndrome 1
Hypoplasia of the maxilla, Cryptorchidism, Short stature, Micrognathia OMIM:212720
Hereditary Folate Malabsorption
Pallor ORPHA:90045
Craniolenticulosutural Dysplasia
Delayed eruption of teeth, Short stature, Hypoplasia of the maxilla, Carious teeth, Hypoplasia of... ORPHA:50814
Niemann-Pick Disease Type C
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Jaundice, Respiratory insufficiency, Hepatosp... ORPHA:646
Van Maldergem Syndrome 1
Micrognathia, Hypoplasia of the maxilla, Dental malocclusion, Growth delay, Malar flattening OMIM:601390
Incontinentia Pigmenti
Pallor, Erythema, Retinal hemorrhage OMIM:308300
Postinfectious Vasculitis
Cerebral vasculitis, Viral hepatitis, Palpable purpura, Cutis marmorata, Pneumonia, Raynaud pheno... ORPHA:48435
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Patent ductus arteriosus, Cerebral hemorrhage OMIM:616682
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Respiratory failure ORPHA:3240
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cyanosis ORPHA:488627
Mitochondrial Complex I Deficiency, Nuclear Type 32
Respiratory failure, Patent urachus, Death in childhood OMIM:618252
Marshall-Smith Syndrome
Microretrognathia, Prominence of the premaxilla, Short stature, Short mandibular rami, Bilateral ... OMIM:602535
Poems Syndrome
Respiratory insufficiency due to muscle weakness, Restrictive ventilatory defect, Pulmonary arter... ORPHA:2905
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Tricuspid regurgitation, Dyspnea, Hydrocephalus, Erythema, Dilated cardiomy... ORPHA:2556
Eosinophilic Fasciitis
Acrocyanosis ORPHA:3165
Van Maldergem Syndrome 2
Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Dental malocclusion, Growth delay, Malar... OMIM:615546
Angelman Syndrome
Mandibular prognathia, Hypoplasia of the maxilla OMIM:105830
Infection-Related Hemolytic Uremic Syndrome
Pneumonia, Dyspnea, Myocarditis, Hypertension, Pleural empyema, Pallor, Pancreatitis, Hypertensiv... ORPHA:544482
Congenital Fiber-Type Disproportion Myopathy
Hypercapnia, Respiratory insufficiency due to muscle weakness, Hypoxemia, Respiratory failure, As... ORPHA:2020
Cowden Syndrome 5
Hydrocele testis, Hypoplasia of the maxilla, Micrognathia OMIM:615108
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment
Fetal intraventricular hemorrhage OMIM:618480
Loeys-Dietz Syndrome 3
Tortuous cerebral arteries, Abdominal aortic aneurysm, Arterial tortuosity, Patent ductus arterio... OMIM:613795
Rapp-Hodgkin Syndrome
Short stature, Hypoplasia of the maxilla, Carious teeth, Taurodontia, Enamel hypoplasia OMIM:129400
Diamond-Blackfan Anemia 1
Tricuspid stenosis, Congestive heart failure, Coarctation of aorta, Pallor, Intrauterine growth r... OMIM:105650
Prolactinoma
Pallor, Hypotension ORPHA:2965
Costello Syndrome
Redundant neck skin, Hydrocephalus, Pneumothorax, Respiratory insufficiency, Hypertrophic cardiom... OMIM:218040
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Macroorchidism, Hypoplasia of the maxilla, Micrognathia OMIM:309520
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Decreased testicular size ORPHA:3044
Generalized Arterial Calcification Of Infancy
Respiratory distress, Cyanosis, Medial calcification of large arteries, Transient ischemic attack... ORPHA:51608
Premature Aging Syndrome, Penttinen Type
Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Corneal stromal edema, Retrog... OMIM:601812
Cowden Syndrome 6
Hydrocele testis, Hypoplasia of the maxilla, Micrognathia OMIM:615109
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Orthostatic hypotension, Tachycardia, Hypertension, Decreased sensitivity to hypoxemia, Acrocyanosis OMIM:223900
Cowden Syndrome 1
Hydrocele testis, Hypoplasia of the maxilla, Lymphopenia, Micrognathia OMIM:158350
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Abnormal bleeding, Anemic pallor, Hematochezia ORPHA:329971
Aicardi Syndrome
Hepatoblastoma, Prominence of the premaxilla, Postnatal growth retardation, Spina bifida OMIM:304050
Nasopalpebral Lipoma-Coloboma Syndrome
Hypoplasia of the maxilla, Severe postnatal growth retardation ORPHA:2399
Fanconi Anemia, Complementation Group D2
Anemic pallor, Patent ductus arteriosus, Hydrocephalus, Annular pancreas, Bruising susceptibility OMIM:227646
Multiple Endocrine Neoplasia Type 2
Reduced subcutaneous adipose tissue, Neoplasm of the liver, Palpitations, Pallor, Hypertensive cr... ORPHA:653
Bickerstaff Brainstem Encephalitis
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Dyspnea, Respiratory ... ORPHA:79138
Classical Ehlers-Danlos Syndrome
Prolonged bleeding time, Orthostatic hypotension, Striae distensae, Prematurely aged appearance, ... ORPHA:287
Pituitary Deficiency Due To Rathke Cleft Cysts
Intracranial hemorrhage, Hydrocephalus ORPHA:91350
Rubinstein-Taybi Syndrome 1
Accessory spleen, Short stature, Spina bifida, Micrognathia, Bilateral cryptorchidism, Cryptorchi... OMIM:180849
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Intracranial hemorrhage, Hypertension ORPHA:90795
Viss Syndrome
Tortuous cerebral arteries, Prominent superficial blood vessels, Epidural hemorrhage, Emphysema, ... OMIM:619472
Aicardi-Goutières Syndrome
Elevated hepatic transaminase, Cutis marmorata, Raynaud phenomenon, Calcification of the aorta, D... ORPHA:51
Myhre Syndrome
Mandibular prognathia, Craniofacial hyperostosis, Severe short stature, Hypoplasia of the maxilla... ORPHA:2588
Steinert Myotonic Dystrophy
Elevated hepatic transaminase, Respiratory failure requiring assisted ventilation, Atrial fibrill... ORPHA:273
Ear-Patella-Short Stature Syndrome
Severe short stature, Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Growth delay, Mand... ORPHA:2554
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Pneumonia, Dyspnea, Pneumothorax, Dilated cardiomyopathy, Stridor, Respirat... ORPHA:79404
Craniofacial-Deafness-Hand Syndrome
Hypoplasia of the maxilla, Malar flattening OMIM:122880
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Mandibular prognathia, Cryptorchidism, Hypoplasia of the maxilla, Umbilical hernia ORPHA:1101
Microphthalmia With Limb Anomalies
Short stature, Hypoplasia of the premaxilla, Micrognathia, Hypoplasia of the maxilla, Cryptorchid... ORPHA:1106
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Cranium bifidum occultum, Hypoplasia of the maxilla, Aplasia/Hypoplasia of the frontal sinuses, H... ORPHA:306542
Cleidocranial Dysplasia 2
Hypoplasia of the maxilla, Supernumerary tooth, Delayed eruption of primary teeth OMIM:620099
Myhre Syndrome
Patent ductus arteriosus, Respiratory insufficiency, Coarctation of aorta, Hypertension, Respirat... OMIM:139210
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Hypoplasia of the maxilla OMIM:106260
Osteoglophonic Dysplasia
Mandibular prognathia, Delayed eruption of teeth, Severe short stature, Rhizomelia, Hypoplasia of... OMIM:166250
Fanconi Anemia, Complementation Group C
Intrauterine growth retardation, Bruising susceptibility, Anemic pallor OMIM:227645
Dpagt1-Cdg
Elevated hepatic transaminase, Hepatomegaly, Prolonged QT interval, Stroke-like episode, Intracra... ORPHA:86309
Nelson Syndrome
Intracranial hemorrhage, Hypertension, Striae distensae ORPHA:199244
Superficial Siderosis
Abnormal bleeding, Subarachnoid hemorrhage, Abnormal vertebral artery morphology, Arteriovenous m... ORPHA:247245
Distal Deletion 19P
Hypoplasia of the maxilla, Umbilical hernia ORPHA:96129
Familial Dysautonomia
Abnormal peritoneum morphology, Orthostatic hypotension, Tachycardia, Hypertension, Acrocyanosis ORPHA:1764
Multicentric Osteolysis, Nodulosis, And Arthropathy
Hypoplasia of the maxilla, Short stature, Delayed eruption of teeth, Micrognathia OMIM:259600
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Short stature, Polyhydramnios, Micrognathia, Hypoplasia of the maxilla, Postnatal growth retardat... OMIM:213980
Retinitis Pigmentosa And Erythrocytic Microcytosis
Pallor OMIM:616959
Otopalatodigital Syndrome, Type Ii
Spina bifida, Hydrocephalus, Respiratory insufficiency, Respiratory failure, Stillbirth, Umbilica... OMIM:304120
Tsh-Secreting Pituitary Adenoma
Supraventricular arrhythmia, Congestive heart failure, Hypertension, Palpitations, Hypotension, P... ORPHA:91347
Hypohidrotic Ectodermal Dysplasia
Hypoplasia of the maxilla, Sinusitis, Xerostomia ORPHA:238468
Fanconi Anemia, Complementation Group E
Bruising susceptibility, Anemic pallor OMIM:600901
Cardiac Valvular Dysplasia 1
Tricuspid regurgitation, Cyanosis, Tricuspid stenosis, Valvular pulmonary stenosis, Arteria lusor... OMIM:212093
Saethre-Chotzen Syndrome
Hypoplasia of the maxilla, Cryptorchidism, Short stature ORPHA:794
3Mc Syndrome 2
Postnatal growth retardation, Cryptorchidism, Prominence of the premaxilla OMIM:265050
Fanconi Anemia, Complementation Group A
Bruising susceptibility, Anemic pallor OMIM:227650
Hyperoxaluria, Primary, Type I
Cutis marmorata, Raynaud phenomenon, Arterial occlusion, Peripheral arterial stenosis, Atrioventr... OMIM:259900
Primary Hyperoxaluria
Elevated hepatic transaminase, Cutis marmorata, Raynaud phenomenon, Heart block, Arterial occlusi... ORPHA:416
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Elevated hepatic transaminase, Hypoventilation, Cyanosis, Central hypoventilation, Asthma, Cardio... ORPHA:293987
Nijmegen Breakage Syndrome
Respiratory failure, Cutaneous photosensitivity, Recurrent pneumonia ORPHA:647
Weill-Marchesani Syndrome 1
Hypoplasia of the maxilla, Short stature, Proportionate short stature OMIM:277600
Meier-Gorlin Syndrome 1
Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Birth length less than 3rd percentile, I... OMIM:224690
Barber-Say Syndrome
Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Crypto... OMIM:209885
Holoprosencephaly 7
Hypoplasia of the premaxilla, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, H... OMIM:610828
Peters-Plus Syndrome
Rhizomelia, Bilobate gallbladder, Polyhydramnios, Micrognathia, Hypoplasia of the maxilla, Crypto... OMIM:261540
Branchioskeletogenital Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Carious teeth, Blepharochalasis, Umbilical hern... ORPHA:1299
Elsahy-Waters Syndrome
Mandibular prognathia, Delayed eruption of teeth, Bilateral cryptorchidism, Hypoplasia of the max... OMIM:211380
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Absent gallbladder, Transient ischemic attack, Patent ductus arteriosus after birth at term, Resp... ORPHA:500150
Weill-Marchesani Syndrome 2
Hypoplasia of the maxilla, Umbilical hernia, Short stature, Proportionate short stature OMIM:608328
Nablus Mask-Like Facial Syndrome
Hypoplasia of the maxilla, Cryptorchidism, Retrognathia OMIM:608156
Aicardi Syndrome
Hepatoblastoma, Prominence of the premaxilla, Delayed puberty ORPHA:50
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant
Intrauterine growth retardation, Subdural hemorrhage OMIM:619714
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Mandibular condyle hypoplasia, Hypoplasia of the premaxilla, Micrognathia ORPHA:2975
Diamond-Blackfan Anemia
Radial artery aplasia, Pallor, Coarctation of aorta ORPHA:124
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Hypoplasia of the maxilla, Cryptorchidism, Carious teeth, Xerostomia, Malar flattening, Semilobar... OMIM:129900
Pitt-Hopkins Syndrome
Acrocyanosis, Abnormal pattern of respiration, Hyperventilation ORPHA:2896
Bartsocas-Papas Syndrome 1
Bilateral cryptorchidism, Hypoplasia of the maxilla, Intrauterine growth retardation, Micrognathia OMIM:263650
Ablepharon Macrostomia Syndrome
Hypoplasia of the maxilla, Umbilical hernia, Growth delay, Hypoplasia of the zygomatic bone ORPHA:920
Cutis Laxa, Autosomal Recessive, Type Iic
Mandibular prognathia, Short stature, Bilateral cryptorchidism, Hypoplasia of the maxilla, Malar ... OMIM:617402
Van Den Ende-Gupta Syndrome
Hypoplasia of the maxilla, Malar flattening, Micrognathia OMIM:600920
Zttk Syndrome
Absent gallbladder, Short stature, Hypoplasia of the maxilla, Growth delay, Intrauterine growth r... OMIM:617140
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Hydrocephalus, Pallor OMIM:253280
Goldberg-Shprintzen Syndrome
Hypoplasia of the maxilla OMIM:609460
Fraser Syndrome 2
Respiratory failure OMIM:617666
Cutis Laxa, Autosomal Recessive, Type Ib
Prominence of the premaxilla, Oligohydramnios, Micrognathia OMIM:614437
Witteveen-Kolk Syndrome
Intracranial hemorrhage, Branchial fistula, Intrauterine growth retardation OMIM:613406
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Dyspnea, Intrauterine growth retardation, Respiratory failure ORPHA:2636
Saethre-Chotzen Syndrome
Hypoplasia of the maxilla, Malar flattening, Cleft of chin, Short stature OMIM:101400
Acute Transverse Myelitis
Hypertension, Orthostatic hypotension, Subarachnoid hemorrhage ORPHA:139417
Semilobar Holoprosencephaly
Central apnea, Hydrocephalus, Abnormal heart rate variability, Neural tube defect, Aspiration pne... ORPHA:220386
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Hypoplasia of the maxilla, Taurodontia OMIM:305100
Alobar Holoprosencephaly
Central apnea, Hydrocephalus, Abnormal heart rate variability, Neural tube defect, Aspiration pne... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Central apnea, Hydrocephalus, Abnormal heart rate variability, Neural tube defect, Aspiration pne... ORPHA:93926
Lobar Holoprosencephaly
Central apnea, Hydrocephalus, Abnormal heart rate variability, Neural tube defect, Aspiration pne... ORPHA:93924
Branchiooculofacial Syndrome
Micrognathia, Postnatal growth retardation, Cryptorchidism, Cleft of chin, Branchial anomaly, Mal... OMIM:113620
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Hypoplasia of the maxilla, Cryptorchidism, Carious teeth, Xerostomia, Malar flattening OMIM:604292
Stickler Syndrome
Short stature, Abnormal dental enamel morphology, Micrognathia, Hypoplasia of the maxilla, Advanc... ORPHA:828
Hypermobile Ehlers-Danlos Syndrome
Apnea, Venous insufficiency, Ascending tubular aorta aneurysm, Arterial dissection, Umbilical her... ORPHA:285
Craniosynostosis And Dental Anomalies
Mandibular prognathia, Delayed eruption of teeth, Short stature, Hypoplasia of the maxilla, Super... OMIM:614188
Holoprosencephaly 2
Aplasia of the premaxilla, Alobar holoprosencephaly, Holoprosencephaly, Malar flattening, Semilob... OMIM:157170
Ulbright-Hodes Syndrome
Respiratory distress, Respiratory failure, Pneumothorax, Severe intrauterine growth retardation ORPHA:3404
Schinzel-Giedion Syndrome
Respiratory distress, Recurrent pneumonia, Neural tube defect, Hepatoblastoma, Umbilical hernia, ... ORPHA:798
Coffin-Lowry Syndrome
Mitral regurgitation, Acrocyanosis, Cutis marmorata, Cutis laxa OMIM:303600
Floating-Harbor Syndrome
Short stature, Persistence of primary teeth, Hypoplasia of the maxilla, Cryptorchidism, Carious t... ORPHA:2044
Craniofacial Microsomia 1
Occipital encephalocele, Micrognathia, Hypoplasia of the maxilla, Hydrocephalus, Branchial anomal... OMIM:164210
Pmm2-Cdg
Respiratory distress, Elevated hepatic transaminase, Pericarditis, Angina pectoris, Abnormal subc... ORPHA:79318
Singleton-Merten Syndrome 1
Short stature, Hypoplasia of the maxilla, Carious teeth, Eruption failure, Pleural effusion, Hypo... OMIM:182250
Primrose Syndrome
Short stature, Bilateral cryptorchidism, Cryptorchidism, Hypoplasia of the maxilla, Delayed puber... OMIM:259050
Axenfeld-Rieger Syndrome, Type 1
Hypoplasia of the maxilla OMIM:180500
Spondyloepimetaphyseal Dysplasia, X-Linked
Hypoplasia of the maxilla, Disproportionate short-trunk short stature OMIM:300106

Histopathology

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

There is no histopathology data for Ybx1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Ybx1.

No publications found that use IMPC mice or data for Ybx1.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Ybx1tm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Ybx1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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