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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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
Dilatation of the cerebral artery, Striae distensae, Transient ischemic attack, Cerebral ischemia... ORPHA:36382
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Multifo... OMIM:619897
Congenital Factor Xiii Deficiency
Gingival bleeding, Epistaxis, Hepatic failure, Delayed onset bleeding, Prolonged bleeding followi... ORPHA:331
Cerebral Cavernous Malformations 2
Telangiectasia, Cerebral cavernous malformation, Stroke, Cerebral hemorrhage OMIM:603284
Hereditary Butyrylcholinesterase Deficiency
Congestive heart failure, Abnormality of the liver, Respiratory failure, Myocardial infarction, R... ORPHA:132
Immune Thrombocytopenia
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Hemorrhage of... ORPHA:3002
Aneurysm, Intracranial Berry, 12
Fusiform cerebral aneurysm, Cerebral berry aneurysm, Subarachnoid hemorrhage, Internal carotid ar... OMIM:618734
Afibrinogenemia, Congenital
Gingival bleeding, Epistaxis, Abnormal bleeding, Subdural hemorrhage, Bruising susceptibility, Pr... OMIM:202400
Sneddon Syndrome
Livedo, Cutis marmorata, Ischemic stroke, Livedo racemosa, Stroke, Livedo reticularis, Cerebral h... OMIM:182410
Abetal34V Amyloidosis
Stroke, Abnormal cerebral vascular morphology, Cerebral hemorrhage ORPHA:324703
Acute Peripheral Arterial Occlusion
Abnormal capillary physiology, Supraventricular tachycardia, Pallor, Abnormality of venous physio... ORPHA:90064
Reversible Cerebral Vasoconstriction Syndrome
Vasospasm, Abnormal bleeding, Subdural hemorrhage, Dilatation of the cerebral artery, Transient i... ORPHA:284388
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Cerebral hemorrhage, Purpura, Pulmonary embolism OMIM:614514
Cerebral Amyloid Angiopathy, Cst3-Related
Stroke, Intracranial hemorrhage, Cerebral hemorrhage OMIM:105150
Dengue Fever
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Cardiorespiratory arrest, Hypotension,... ORPHA:99828
Cerebral Cavernous Malformations
Cerebral cavernous malformation, Intracranial hemorrhage, Hepatic vascular malformations OMIM:116860
Circumvallate Placenta Syndrome
Intracranial hemorrhage, Respiratory insufficiency OMIM:215550
Dural Sinus Malformation
Myelopathy, Abnormal facial vein morphology, Subdural hemorrhage, Stroke, Subarachnoid hemorrhage... ORPHA:97339
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Pallor, Splenomegaly ORPHA:46532
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Abeta Amyloidosis, Iowa Type
Stroke, Abnormal cerebral vascular morphology, Cerebral hemorrhage ORPHA:324708
Familial Afibrinogenemia
Gingival bleeding, Epistaxis, Abnormal bleeding, Cerebral hemorrhage, Miscarriage ORPHA:98880
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Spinal Muscular Atrophy, Type I
Respiratory failure, Death in childhood, Respiratory insufficiency OMIM:253300
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Transient ischemic attack, Arterial stenosis, Ischemic stroke, Cerebral ischemia, Stroke, Cerebra... ORPHA:136
Abeta Amyloidosis, Italian Type
Stroke, Cerebral hemorrhage ORPHA:324713
Non-Functioning Paraganglioma
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Pallo... ORPHA:94080
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Death in adolescence, Respiratory failure, Respiratory insufficiency due to muscle weakness OMIM:300717
Pseudo-Torch Syndrome 2
Elevated circulating hepatic transaminase concentration, Respiratory insufficiency, Cerebral hemo... OMIM:617397
Cerebral Cavernous Malformations 3
Cerebral cavernous malformation, Cerebral hemorrhage OMIM:603285
Internal Carotid Absence
Dilatation of the cerebral artery, Subarachnoid hemorrhage, Cerebral ischemia ORPHA:981
Moderate Hemophilia A
Gingival bleeding, Gastrointestinal hemorrhage, Abnormal bleeding, Subdural hemorrhage, Spontaneo... ORPHA:169805
Wyburn-Mason Syndrome
Gingival bleeding, Epistaxis, Arteriovenous malformation, Abnormal cerebral vascular morphology, ... ORPHA:53719
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory failure, Death in infancy, Respiratory insufficiency OMIM:611722
Hemophilia A
Gastrointestinal hemorrhage, Spontaneous hematomas, Intracranial hemorrhage, Intraventricular hem... ORPHA:98878
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Dilated cardiomyopathy, Premature graying of hair, Moyamoya phenomenon, Ischemic stroke, Coronary... ORPHA:280679
Pontocerebellar Hypoplasia, Type 1C
Respiratory failure, Death in childhood, Respiratory insufficiency OMIM:616081
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Snakebite Envenomation
Gingival bleeding, Erythema, Hypotension, Epistaxis, Abnormal bleeding, Cardiogenic shock, Angioe... ORPHA:449285
Aneurysm, Intracranial Berry, 2
Subarachnoid hemorrhage, Cerebral berry aneurysm OMIM:608542
Aneurysm, Intracranial Berry, 1
Dilatation of the cerebral artery, Intracranial hemorrhage OMIM:105800
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Epistaxis, Elevated circulating hepatic transaminase concentration, Abnormal bleeding, Bruising s... OMIM:277450
Mitochondrial Trifunctional Protein Deficiency 2
Hypotension, Dilated cardiomyopathy, Tricuspid regurgitation, Elevated circulating aspartate amin... OMIM:620300
Breath-Holding Spells
Pallor, Cyanosis OMIM:607578
Erythrocytosis, Familial, 1
Splenomegaly, Plethora, Cerebral hemorrhage, Hypertension, Myocardial infarction OMIM:133100
Hepatic Veno-Occlusive Disease
Hepatomegaly, Jaundice, Elevated circulating hepatic transaminase concentration, Respiratory failure ORPHA:890
Glanzmann Thrombasthenia 1
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Subdural hemorrhage, Excessive bleedin... OMIM:273800
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Glycine Encephalopathy 2
Respiratory failure OMIM:620398
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Elevated circulating hepatic transaminase concentration, Hypertrophic cardiomyopathy, Pallor, Res... OMIM:613561
Telangiectasia, Hereditary Hemorrhagic, Type 1
Pulmonary hemorrhage, Nasal mucosa telangiectasia, Gastrointestinal angiodysplasia, High-output c... OMIM:187300
Methanol Poisoning
Inflammatory arteriopathy, Permanent atrial fibrillation, Cerebral hemorrhage, Intracranial hemor... ORPHA:31825
Acquired Aneurysmal Subarachnoid Hemorrhage
Vasospasm, Congestive heart failure, Ischemic stroke, Cerebral ischemia, Abnormal cerebral artery... ORPHA:90065
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Congenital Heart Block
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... ORPHA:60041
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Periventricular Nodular Heterotopia 1
Stroke, Patent ductus arteriosus, Cerebral hemorrhage OMIM:300049
Erythrocytosis, Familial, 2
Hypotension, Varicose veins, Plethora, Stroke, Pulmonary arterial hypertension, Cerebral hemorrhage OMIM:263400
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Neonatal respiratory distress, Respiratory insufficiency, Elevated circulating aspartate aminotra... OMIM:245400
Congenital Factor V Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Hematochezia, Prolonged bleeding follo... ORPHA:326
Deafness-Lymphedema-Leukemia Syndrome
Prolonged bleeding time, Bruising susceptibility, Pallor, Splenomegaly, Hepatomegaly, Intracrania... ORPHA:3226
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Respiratory failure, Death in infancy, Respiratory insufficiency OMIM:613869
Factor Xiii, A Subunit, Deficiency Of
Gingival bleeding, Epistaxis, Abnormal bleeding, Bruising susceptibility, Spontaneous hematomas, ... OMIM:613225
Neuralgic Amyotrophy
Acrocyanosis, Redundant neck skin, Respiratory insufficiency ORPHA:2901
Acquired Purpura Fulminans
Hepatic failure, Macular purpura, Shock, Internal hemorrhage, Prolonged prothrombin time, Pyoderm... ORPHA:49566
Congenital Arthrogryposis With Anterior Horn Cell Disease
Respiratory failure, Respiratory insufficiency due to muscle weakness, Neonatal death OMIM:611890
Buerger Disease
Vasculitis, Arterial occlusion, Skin ulcer, Intermittent claudication, Livedo reticularis, Raynau... ORPHA:36258
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hematochezia, Gastrointestinal hemorrhage, Diffuse alveolar hemorrhage, Melena, Abnormal vascular... ORPHA:464321
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Dilated cardiomyopathy, Premature coronary artery atherosclerosis, Premature graying of hair, Moy... OMIM:300845
Developmental And Epileptic Encephalopathy 71
Respiratory failure, Respiratory insufficiency OMIM:618328
Fibronectin Glomerulopathy
Hypertension, Cerebral hemorrhage ORPHA:84090
Ceroid Lipofuscinosis, Neuronal, 10
Respiratory insufficiency, Vascular granular osmiophilic material deposition, Respiratory failure... OMIM:610127
Leukoencephalopathy With Calcifications And Cysts
Stroke, Cerebral hemorrhage ORPHA:542310
Beta-Thalassemia
Cholelithiasis, Hepatitis, Skin ulcer, Respiratory insufficiency, Hypertrophic cardiomyopathy, Pa... ORPHA:848
Telangiectasia, Hereditary Hemorrhagic, Type 4
Arteriovenous fistulas of celiac and mesenteric vessels, Right-to-left shunt, Tongue telangiectas... OMIM:610655
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Neonatal respiratory distress, Elevated circulating hepatic transaminase concentration, Dilated c... OMIM:608836
Nemaline Myopathy 8
Respiratory failure, Death in infancy OMIM:615348
Sneddon Syndrome
Vascular skin abnormality, Arterial stenosis, Cutis marmorata, Intracranial hemorrhage, Hypertension ORPHA:820
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Splenomegaly, Petechiae, Vasculitis in the skin, Hepatomegaly, Purpura, Respiratory failure OMIM:620296
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Respiratory failure, Respiratory insufficiency ORPHA:266
Fetal Gaucher Disease
Abnormality of the spleen, Splenomegaly, Death in infancy, Neonatal death, Stillbirth, Hepatomega... ORPHA:85212
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Combined Oxidative Phosphorylation Deficiency 52
Hypertrophic cardiomyopathy, Elevated circulating aspartate aminotransferase concentration, Hepat... OMIM:619386
Peripheral Cone Dystrophy
Pallor OMIM:609021
Severe Hemophilia A
Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding following circumcision, Subdural hemor... ORPHA:169802
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Epidural hemorrhage, Gastrointestinal hemorrhage, Epistaxis, Poor wound healing, Prolonged bleedi... ORPHA:465
Telangiectasia, Hereditary Hemorrhagic, Type 2
Nasal mucosa telangiectasia, Gastrointestinal angiodysplasia, Cirrhosis, Facial telangiectasia, C... OMIM:600376
Cyanosis, Transient Neonatal
Hepatomegaly, Jaundice, Cyanosis OMIM:613977
Pseudo-Torch Syndrome 3
Cerebral hemorrhage, Hypertension, Death in infancy, Respiratory insufficiency OMIM:618886
Evans Syndrome
Epistaxis, Bruising susceptibility, Pallor, Petechiae, Syncope, Jaundice ORPHA:1959
Polycythemia Vera
Gastrointestinal hemorrhage, Budd-Chiari syndrome, Cerebral ischemia, Splenomegaly, Cerebral hemo... OMIM:263300
Combined Oxidative Phosphorylation Deficiency 51
Intrauterine growth retardation, Respiratory failure, Neonatal respiratory distress OMIM:619057
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Pontocerebellar Hypoplasia, Type 4
Respiratory failure, Death in infancy OMIM:225753
Fetal And Neonatal Alloimmune Thrombocytopenia
Gastrointestinal hemorrhage, Abnormal bleeding, Spontaneous hematomas, Petechiae, Ecchymosis, Sub... ORPHA:853
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure, Congestive heart failure OMIM:616794
Vacterl Association With Hydrocephalus
Respiratory insufficiency, Hydrocephalus, Stillbirth, Aqueductal stenosis, Respiratory failure OMIM:276950
Hb Bart'S Hydrops Fetalis
Congestive heart failure, Pallor, Splenomegaly, Hydrocephalus, Hepatomegaly, Pericarditis ORPHA:163596
Amyotrophic Lateral Sclerosis 28
Respiratory failure OMIM:620452
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Intellectual Developmental Disorder, Autosomal Recessive 68
Hypoplasia of the maxilla, Hydrocephalus OMIM:618302
Lethal Osteosclerotic Bone Dysplasia
Intrauterine growth retardation, Respiratory failure ORPHA:1832
Perching Syndrome
Cyanosis OMIM:617055
Familial Cerebral Saccular Aneurysm
Abnormal circle of Willis morphology, Aortic root aneurysm, Aortic dissection, Atherosclerosis, T... ORPHA:231160
Sporadic Pheochromocytoma/Secreting Paraganglioma
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Pallo... ORPHA:276621
Hyperekplexia 4
Respiratory failure, Umbilical hernia OMIM:618011
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Respiratory failure, Death in infancy, Bradycardia OMIM:616277
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Respiratory failure OMIM:600561
Joubert Syndrome 15
Exencephaly OMIM:614464
Dermatitis, Atopic
Dry skin, Facial erythema, Pallor OMIM:603165
Hereditary Hemorrhagic Telangiectasia
Arteriovenous malformation, Nasal mucosa telangiectasia, Telangiectasia, Cirrhosis, Retinal telan... ORPHA:774
Congenital Myopathy 14
Respiratory failure, Death in infancy, Respiratory insufficiency due to muscle weakness OMIM:618414
Renal Hypodysplasia/Aplasia 4
Respiratory failure OMIM:619887
Congenital Factor Ii Deficiency
Epistaxis, Prolonged bleeding following circumcision, Abnormal bleeding, Excessive bleeding from ... ORPHA:325
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Hypertrophic cardiomyopathy, Focal pancreatic islet hyperpl... ORPHA:276575
Immunodeficiency 95
Respiratory failure OMIM:619773
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Hypertrophic cardiomyopathy, Palpitations, Pallor, Syncope,... ORPHA:276556
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Decreased liver function, Congestive heart failure, Hypertrophic cardiomyopathy, Stroke-like epis... ORPHA:70472
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Congenitally Uncorrected Transposition Of The Great Arteries
Interrupted aortic arch, Abnormal aortic arch morphology, Abnormal coronary artery morphology, Co... ORPHA:860
Cerebral Amyloid Angiopathy, App-Related
Tortuous cerebral arteries, Cerebral ischemia, Stroke, Subarachnoid hemorrhage, Recurrent cerebra... OMIM:605714
Congenital Myopathy 10A, Severe Variant
Respiratory failure, Respiratory insufficiency OMIM:614399
Familial Focal Epilepsy With Variable Foci
Pallor, Flushing ORPHA:98820
Factor Vii Deficiency
Epistaxis, Abnormal bleeding, Bruising susceptibility, Prolonged bleeding after dental extraction... OMIM:227500
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal respiratory distress, Cyanosis, Death in infancy, Neonatal death, Pulmonary arterial hyp... OMIM:265120
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Hypertrophic cardiomyopathy, Cyanosis, Low-output congestive heart failure ORPHA:91130
Congenital Pulmonary Lymphangiectasia
Congestive heart failure, Tricuspid regurgitation, Splenomegaly, Cyanosis, Pulmonary arterial hyp... ORPHA:2414
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Subdural hemorrhage, Death in childhood, Death in infancy, Cerebral hemorrhage, Respiratory failure OMIM:620278
Thiamine-Responsive Megaloblastic Anemia Syndrome
Congestive heart failure, Pallor, Stroke, Paroxysmal atrial tachycardia, Cardiac arrest ORPHA:49827
Phosphoserine Aminotransferase Deficiency
Cyanotic episode, Death in infancy OMIM:610992
Hemophilia B
Poor wound healing, Prolonged bleeding after dental extraction, Intracranial hemorrhage, Spontane... ORPHA:98879
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Hypertrophic cardiomyopathy, Palpitations, Pallor, Syncope,... ORPHA:276580
Combined Oxidative Phosphorylation Deficiency 11
Decreased liver function, Cardiomyopathy, Hepatic steatosis, Death in childhood, Neonatal death, ... OMIM:614922
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Medial calcification of large arteries, Medial calcification of medi... OMIM:177850
Congenital Factor Vii Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Intracranial ... ORPHA:327
Idiopathic Pulmonary Hemosiderosis
Diffuse alveolar hemorrhage, Hepatosplenomegaly, Pallor, Hepatomegaly, Heart murmur, Respiratory ... ORPHA:99931
Anemia, Congenital Dyserythropoietic, Type Ib
Hepatomegaly, Jaundice, Pallor, Splenomegaly OMIM:615631
Arthrogryposis Multiplex Congenita 6
Death in infancy, Respiratory failure, Death in childhood, Neonatal death OMIM:619334
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatic steatosis, Reduced subcutaneous adipose tissue, Cirrhosis, Hepatomegaly, Hypertension, Re... ORPHA:363400
Chiari Malformation Type Ii
Cervical myelopathy, Myelomeningocele, Cyanosis, Hydrocephalus, Spina bifida OMIM:207950
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Intrauterine growth retardation, Death in childhood, Death in infancy, Neonatal death, Death in a... OMIM:619055
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Ventilator dependence with inability to wean, Respiratory failure, Respiratory insufficiency due ... ORPHA:254875
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure, Respiratory failure requiring assisted ventilation ORPHA:90117
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
X-Linked Sideroblastic Anemia
Elevated circulating hepatic transaminase concentration, Pallor, Splenomegaly ORPHA:75563
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Respiratory failure OMIM:618637
Niemann-Pick Disease, Type C2
Neonatal respiratory distress, Respiratory insufficiency, Splenomegaly, CNS foam cells, Foam cell... OMIM:607625
Seizures, Benign Familial Infantile, 3
Cyanosis OMIM:607745
Waldenström Macroglobulinemia
Gingival bleeding, Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Respiratory insufficiency,... ORPHA:33226
Immunodeficiency 54
Respiratory insufficiency, Intrauterine growth retardation, Splenomegaly, Hepatomegaly, Respirato... OMIM:609981
Pulmonary Arteriovenous Malformation
Epistaxis, Abnormal bleeding, Pulmonary hemorrhage, Palpitations, Hemothorax, Transient ischemic ... ORPHA:2038
Acute Myelomonocytic Leukemia
Abnormal bleeding, Pallor ORPHA:517
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor ORPHA:2786
Combined Deficiency Of Factor V And Factor Viii
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding following circumcis... ORPHA:35909
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Hydranencephaly, Hepatic sinusoidal dilatation, Respiratory insufficiency, Tricuspid regurgitatio... OMIM:620371
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Respiratory failure, Respiratory insufficiency due to muscle weakness ORPHA:2590
Spondylometaphyseal Dysplasia, X-Linked
Respiratory failure, Respiratory insufficiency OMIM:313420
Optic Atrophy 7 With Or Without Auditory Neuropathy
Hypertrophic cardiomyopathy, Pallor OMIM:612989
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Congestive heart failure, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Death in ... ORPHA:1194
Hereditary Pheochromocytoma-Paraganglioma
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Pallo... ORPHA:29072
Tricuspid Atresia
Cyanosis, Persistent left superior vena cava, Coarctation of aorta, Transposition of the great ar... ORPHA:1209
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia, Pallor, Pancreatic islet-cell hyperplasia ORPHA:276608
Seizures, Benign Familial Infantile, 1
Cyanosis OMIM:601764
Infant Acute Respiratory Distress Syndrome
Hypotension, Hypoxemia, Cyanosis, Bradycardia, Tachycardia, Cardiac arrest, Respiratory failure ORPHA:70587
Autosomal Recessive Distal Osteolysis Syndrome
Short stature, Hypoplasia of the maxilla ORPHA:2776
Primary Myelofibrosis
Abnormal bleeding, Hepatosplenomegaly, Portal hypertension, Splenomegaly, Pallor, Ecchymosis, Pet... ORPHA:824
Hemoglobin D Disease
Pallor, Splenomegaly ORPHA:90039
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Hyperinsulinism Due To Hnf1A Deficiency
Palpitations, Pallor, Syncope, Hepatomegaly, Tachycardia ORPHA:324575
Congenital Factor X Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Spontaneous h... ORPHA:328
Congenital Muscular Dystrophy With Intellectual Disability
Respiratory failure, Respiratory insufficiency ORPHA:370968
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Spina bifida occulta, Subdural hemorrhage, Respiratory failure, Respiratory insufficiency due to ... OMIM:618291
Beta-Thalassemia Intermedia
Cholelithiasis, Skin ulcer, Decreased liver function, Hepatosplenomegaly, Abnormality of the live... ORPHA:231222
1P31P32 Microdeletion Syndrome
Moyamoya phenomenon, Intraventricular hemorrhage, Cutis marmorata ORPHA:401986
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Dilated cardiomyopathy, Respiratory insufficiency, Hypertrophic cardiomyopathy, Death in infancy,... OMIM:614299
Pheochromocytoma--Islet Cell Tumor Syndrome
Congestive heart failure, Positive regitine blocking test, Episodic hypertension, Cerebral hemorr... OMIM:171420
Brain Small Vessel Disease 2
Intracranial hemorrhage OMIM:614483
Leishmaniasis
Elevated circulating hepatic transaminase concentration, Abnormal bleeding, Skin ulcer, Pallor, S... ORPHA:507
Combined Oxidative Phosphorylation Deficiency 4
Hepatomegaly, Intrauterine growth retardation, Respiratory failure, Death in infancy OMIM:610678
Optic Atrophy 1
Pallor OMIM:165500
Congenital Alpha2-Antiplasmin Deficiency
Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Hemothorax, Intracranial hemorrhag... ORPHA:79
Adult Acute Respiratory Distress Syndrome
Vasculitis, Hypotension, Shock, Pancreatitis, Abnormal blood gas level, Hypoxemia, Respiratory fa... ORPHA:70578
Congenital Fibrinogen Deficiency
Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Subcutaneous hemorrhage, Cyanosis,... ORPHA:335
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Intrauterine growth retardation, Pallor, Splenomegaly, Cholecystitis, Hepatomegal... OMIM:266200
Interstitial Pneumonitis, Desquamative, Familial
Cyanosis, Respiratory failure OMIM:263000
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Neonatal respiratory distress, Respiratory failure, Patent ductus arteriosus OMIM:616867
Parkes Weber Syndrome
Arteriovenous malformation, Myelopathy, Skin ulcer, Vascular tortuosity, Abnormal bleeding, Venou... ORPHA:90307
X-Linked Intellectual Disability, Sutherland-Haan Type
Short stature, Hypoplasia of the maxilla, Mandibular prognathia ORPHA:93950
Intellectual Developmental Disorder, Autosomal Dominant 70
Hypoplasia of the maxilla, Retrognathia, Micrognathia, Malar flattening, Hydrocephalus, Mandibula... OMIM:620157
Familial Multiple Nevi Flammei
Arteriovenous malformation, Skin ulcer, Pulmonary embolism, Venous insufficiency, Arrhythmia, Int... ORPHA:624
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis ORPHA:71277
Multiple Mitochondrial Dysfunctions Syndrome 3
Intrauterine growth retardation, Respiratory failure, Respiratory insufficiency OMIM:615330
Menkes Disease
Intrauterine growth retardation, Cutis laxa, Intracranial hemorrhage, Death in childhood OMIM:309400
Congenital Neuronal Ceroid Lipofuscinosis
Vascular granular osmiophilic material deposition, Neonatal respiratory distress, Respiratory fai... ORPHA:168486
Frontonasal Dysplasia 1
Cranium bifidum occultum, Hypoplasia of the maxilla, Anterior basal encephalocele, Hypoplastic fr... OMIM:136760
Acquired Von Willebrand Syndrome
Aortic valve stenosis, Aortic regurgitation, Gastrointestinal hemorrhage, Hypotension, Epistaxis,... ORPHA:99147
Primary Angiitis Of The Central Nervous System
Stroke, Transient ischemic attack, Intracranial hemorrhage, Cerebral vasculitis ORPHA:140989
Neurocutaneous Melanocytosis
Meningocele, Intracranial hemorrhage, Death in infancy ORPHA:2481
Riddle Syndrome
Neonatal asphyxia, Erythema, Telangiectasia, Conjunctival telangiectasia, Intraventricular hemorr... ORPHA:420741
Congenital Tricuspid Valve Dysplasia
Tricuspid regurgitation, Intrauterine growth retardation, Cyanosis, Hepatomegaly, Hypoxemia, Syst... ORPHA:555874
Peripartum Cardiomyopathy
Dilated cardiomyopathy, Right ventricular failure, Cardiogenic shock, Sinus tachycardia, Congesti... ORPHA:563
Abeta Amyloidosis, Dutch Type
Stroke, Death in early adulthood, Cerebral hemorrhage ORPHA:100006
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Multiple Mitochondrial Dysfunctions Syndrome 1
Respiratory insufficiency, Death in infancy, Neonatal death, Pulmonary arterial hypertension, Res... OMIM:605711
Factor X Deficiency
Gingival bleeding, Epistaxis, Intracranial hemorrhage, Prolonged bleeding after surgery, Prolonge... OMIM:227600
Leigh Syndrome, Nuclear
Hepatocellular necrosis, Respiratory failure, Respiratory insufficiency OMIM:256000
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Congestive heart failure, Redundant skin, Neonatal death, Palmoplantar cutis laxa, Pulmonary arte... OMIM:616482
Rheumatic Fever
Erythema, Epistaxis, Respiratory insufficiency, Pallor, Arrhythmia, Myocarditis, Pericarditis ORPHA:3099
Peroxisome Biogenesis Disorder 12A (Zellweger)
Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Promine... OMIM:614886
Focal Facial Dermal Dysplasia Type Iv
Intracranial hemorrhage, Hydrocephalus ORPHA:398189
Spontaneous Periodic Hypothermia
Arrhythmia, Pallor ORPHA:29822
Dental Anomalies And Short Stature
Short stature, Hypoplasia of the maxilla, Mandibular prognathia, Amelogenesis imperfecta OMIM:601216
Combined Oxidative Phosphorylation Defect Type 23
Congestive heart failure, Hypertrophic cardiomyopathy, Cyanosis, Severely reduced left ventricula... ORPHA:444013
Acys Amyloidosis
Stroke, Death in early adulthood, Cerebral hemorrhage ORPHA:100008
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Hepatomegaly, Jaundice, Pallor OMIM:613839
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Short stature, Hydrocephalus, Hypoplasia of the maxilla, Malar flattening OMIM:109120
Asbestos Intoxication
Right ventricular failure, Oxygen desaturation on exertion, Cyanosis, Hepatojugular reflux, Hypox... ORPHA:2302
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hydrocephalus, Hypoplasia of the maxilla, Malar flattening ORPHA:93262
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Short stature, Hypoplasia of the maxilla OMIM:156510
Muscular Dystrophy, Congenital, 1B
Respiratory failure OMIM:604801
Acute Lung Injury
Diffuse alveolar hemorrhage, Shock, Respiratory failure, Acute pancreatitis, Hypoxemia ORPHA:178320
Triosephosphate Isomerase Deficiency
Cholelithiasis, Respiratory insufficiency, Congestive heart failure, Cholecystitis, Splenomegaly,... OMIM:615512
Dravet Syndrome
Pallor, Cyanotic episode ORPHA:33069
Neuropathy, Congenital Hypomyelinating, 3
Respiratory insufficiency, Respiratory failure, Neonatal death OMIM:618186
X-Linked Intellectual Disability, Porteous Type
Short stature, Hypoplasia of the maxilla, Mandibular prognathia ORPHA:93945
Boutonneuse Fever
Petechiae, Elevated circulating hepatic transaminase concentration, Respiratory failure, Vasculitis ORPHA:83313
Cyclic Vomiting Syndrome
Pallor, Cardiomyopathy OMIM:500007
Alg1-Cdg
Cardiomyopathy, Respiratory failure, Decreased liver function ORPHA:79327
Tempi Syndrome
Telangiectasia, Intracranial hemorrhage, Facial erythema, Hypoxemia ORPHA:284227
Myelofibrosis
Hepatomegaly, Purpura, Pallor, Splenomegaly OMIM:254450
Mitochondrial Phosphate Carrier Deficiency
Hypertrophic cardiomyopathy, Cyanosis, Respiratory insufficiency OMIM:610773
Lethal Congenital Contracture Syndrome 5
Retinal hemorrhage, Subdural hemorrhage, Death in infancy, Respiratory insufficiency OMIM:615368
Mitochondrial Complex I Deficiency, Nuclear Type 18
Respiratory failure, Death in infancy OMIM:618240
Lowry-Maclean Syndrome
Hypoplasia of the maxilla, Abnormality of the abdominal organs, Retrognathia, Intrauterine growth... ORPHA:2409
Cocaine Intoxication
Diffuse alveolar hemorrhage, Hypotension, Aortic dissection, Prolonged QRS complex, Ischemic stro... ORPHA:90068
Hellp Syndrome
Hypotension, Elevated circulating hepatic transaminase concentration, Poor wound healing, Interna... ORPHA:244242
American Trypanosomiasis
Cardiomyopathy, Congestive heart failure, Pallor, Splenomegaly, Arrhythmia, Myocarditis, Hepatome... ORPHA:3386
Sepsis In Premature Infants
Hypotension, Abnormal bleeding, Decreased liver function, Pallor, Splenomegaly, Petechiae, Cyanos... ORPHA:90051
Intermediate Nemaline Myopathy
Respiratory failure ORPHA:171433
Carnitine-Acylcarnitine Translocase Deficiency
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypotension, Cardiomyop... ORPHA:159
Congenital Myopathy 21 With Early Respiratory Failure
Hypertrophic cardiomyopathy, Intrauterine growth retardation, Respiratory failure OMIM:620326
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Kyphoscoliotic Ehlers-Danlos Syndrome
Poor wound healing, Subdural hemorrhage, Bruising susceptibility, Umbilical hernia, Arterial rupt... ORPHA:536545
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Arrhythmia, Dilated cardiomyopathy, Respiratory failure, Respiratory insufficiency due to muscle ... ORPHA:352447
Acquired Idiopathic Sideroblastic Anemia
Abnormal bleeding, Congestive heart failure, Pallor, Splenomegaly, Hepatomegaly ORPHA:75564
Benign Familial Infantile Epilepsy
Cyanosis ORPHA:306
Lipodystrophy, Generalized, With Impaired Intellectual Development, Deafness, Short Stature, And Slender Bones
Short stature, Intrauterine growth retardation, Hypoplasia of the maxilla OMIM:608154
Histiocytoid Cardiomyopathy
Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Congestive heart failure,... ORPHA:137675
Methylmalonic Acidemia With Homocystinuria Type Cblf
Intrauterine growth retardation, Intraventricular hemorrhage, Reduced number of intrahepatic bile... ORPHA:79284
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Cervical myelopathy, Myelopathy, Respiratory failure, Death in childhood OMIM:617186
Vascular Hyalinosis
Hematochezia, Vascular dilatation, Subarachnoid hemorrhage, Premature graying of hair OMIM:277175
Joubert Syndrome 14
Encephalocele, Hydrocephalus, Meningocele, Intracranial hemorrhage, Hypertension OMIM:614424
Postsynaptic Congenital Myasthenic Syndromes
Cyanosis, Respiratory failure ORPHA:98913
Hyperimmunoglobulinemia D With Periodic Fever
Erythema, Vasculitis, Gastrointestinal hemorrhage, Peritonitis, Hepatomegaly, Acrocyanosis, Purpu... ORPHA:343
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic root aneurysm, Cutis marmorata, Abdominal aortic aneurysm, Carotid artery dilatation, Pate... ORPHA:91387
20P12.3 Microdeletion Syndrome
Short stature, Hypoplasia of the maxilla, Malar flattening ORPHA:261295
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Respiratory failure OMIM:613435
Primary Pulmonary Hypoplasia
Abnormal pulmonary artery morphology, Neonatal respiratory distress, Intrauterine growth retardat... ORPHA:2257
Primary Ciliary Dyskinesia
Neonatal respiratory distress, Polysplenia, Abnormal inferior vena cava morphology, Persistent le... ORPHA:244
Autoimmune Hemolytic Anemia, Warm Type
Congestive heart failure, Pallor, Splenomegaly, Jaundice, Tachycardia ORPHA:90033
Pyruvate Dehydrogenase E1-Alpha Deficiency
Respiratory failure OMIM:312170
Cardiogenic Shock
Impaired myocardial contractility, Hypotension, Right ventricular failure, Abnormal left ventricu... ORPHA:97292
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypotension, Elevated circulating hepatic transaminase concentration, Reduced left ventricular ej... ORPHA:542323
Myopathic Ehlers-Danlos Syndrome
Poor wound healing, Pallor ORPHA:536516
Isolated Right Ventricular Hypoplasia
Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le... ORPHA:439
Split-Hand/Foot Malformation 3
Hypoplasia of the maxilla, Microretrognathia OMIM:246560
Autoinflammatory Disease, Systemic, X-Linked
Hepatosplenomegaly, Cerebral hemorrhage OMIM:301081
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Jaundice, Respiratory failure OMIM:250940
Neuromyelitis Optica Spectrum Disorder
Respiratory failure ORPHA:71211
Dominant Beta-Thalassemia
Hepatic fibrosis, Dilated cardiomyopathy, Skin ulcer, Hepatosplenomegaly, Hypersplenism, Pallor, ... ORPHA:231226
Ullrich Congenital Muscular Dystrophy
Respiratory failure ORPHA:75840
Mitochondrial Trifunctional Protein Deficiency 1
Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, Respiratory insu... OMIM:609015
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory insufficiency, Hypertrophic cardiomyopathy, Shortened PR interval, Low-output congest... ORPHA:308552
Atrial Septal Defect, Coronary Sinus Type
Right ventricular failure, Bundle branch block, Transient ischemic attack, Palpitations, Anomalou... ORPHA:99104
Drug-Induced Autoimmune Hemolytic Anemia
Tachycardia, Pallor, Splenomegaly, Congestive heart failure ORPHA:90037
Meckel Syndrome 14
Hepatic fibrosis, Cardiorespiratory arrest, Occipital encephalocele, Tricuspid regurgitation, Mit... OMIM:619879
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatic failure, Increased hepatic echogenicity, Hepatic steatosis, Cyanosis, Elevated circulatin... OMIM:261680
Senior-Loken Syndrome 8
Intrahepatic bile duct dilatation, Pallor, Hepatic cysts, Vascular dilatation, Pancreatic cysts OMIM:616307
Spondylospinal Thoracic Dysostosis
Hypoplasia of the maxilla, Micrognathia OMIM:601809
Acquired Methemoglobinemia
Palpitations, Cyanosis, Arrhythmia, Syncope, Tachycardia, Hypoxemia ORPHA:464453
Pheochromocytoma
Congestive heart failure, Positive regitine blocking test, Renal artery stenosis, Episodic hypert... OMIM:171300
Encephalopathy, Ethylmalonic
Acrocyanosis, Petechiae, Death in infancy OMIM:602473
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated circulating hepatic transaminase concentration, Pallor, Pancreatic islet-cell hyperplasi... ORPHA:263455
Criss-Cross Heart
Respiratory insufficiency, Supravalvular aortic stenosis, Mitral stenosis, Cyanosis, Transpositio... ORPHA:1461
Cold Agglutinin Disease
Hepatomegaly, Pallor, Splenomegaly ORPHA:56425
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Hepatitis, Pallor, Splenomegaly, Hepatomegaly, Jaundice OMIM:194380
Arterial Tortuosity Syndrome
Cardiorespiratory arrest, Aortic root aneurysm, Aortic dissection, Dilated cardiomyopathy, Conges... ORPHA:3342
Atrial Septal Defect, Ostium Secundum Type
Mitral regurgitation, Arrhythmia, Systolic heart murmur, Right ventricular failure, Tricuspid reg... ORPHA:99103
Central Hypoventilation Syndrome, Congenital, 3
Episodic hypertension, Respiratory failure OMIM:619483
Crouzon Syndrome
Hypoplasia of the maxilla, Hydrocephalus ORPHA:207
Multiple Acyl-Coa Dehydrogenase Deficiency
Cardiorespiratory arrest, Elevated circulating hepatic transaminase concentration, Decreased live... ORPHA:26791
Mirage Syndrome
Intrauterine growth retardation, Petechiae, Hydrocephalus, Intracranial hemorrhage, Hypoplastic s... OMIM:617053
Hypophosphatasia, Infantile
Intracranial hemorrhage, Death in infancy, Stillbirth OMIM:241500
Congenital Dyserythropoietic Anemia Type Iii
Gingival bleeding, Elevated circulating hepatic transaminase concentration, Pallor, Melena, Oral ... ORPHA:98870
Hereditary Spherocytosis
Cholelithiasis, Restrictive cardiomyopathy, Skin ulcer, Pallor, Splenomegaly, Hepatomegaly, Jaundice ORPHA:822
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Short stature, Hypoplasia of the maxilla ORPHA:85279
Avian Influenza
Elevated circulating hepatic transaminase concentration, Hepatitis, Congestive heart failure, Hyp... ORPHA:454836
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hypoplasia of the maxilla, Mandibular prognathia ORPHA:397973
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Atrioventricular block, Right ventricular failure, Ab... ORPHA:1329
Pseudohermaphroditism, Female, With Skeletal Anomalies
Short mandibular condyles, Hypoplasia of the maxilla OMIM:264270
Tetrasomy 5P
Congestive heart failure, Cyanosis, Redundant neck skin, Pulmonary arterial hypertension, Hydroce... ORPHA:3309
Osteogenesis Imperfecta
Arterial dissection, Aortic regurgitation, Neonatal respiratory distress, Aortic root aneurysm, A... ORPHA:666
Surfactant Metabolism Dysfunction, Pulmonary, 3
Neonatal respiratory distress, Cyanosis, Death in infancy, Neonatal death, Hypoxemia, Respiratory... OMIM:610921
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Pallor, Splenomegaly, Elevated hepatic iron concentration OMIM:615234
Maxillonasal Dysplasia
Hypoplasia of the maxilla, Mandibular prognathia ORPHA:1248
Retinitis Pigmentosa 51
Pallor OMIM:613464
Beta-Thalassemia Major
Hepatic fibrosis, Dilated cardiomyopathy, Skin ulcer, Hepatosplenomegaly, Hypersplenism, Pallor, ... ORPHA:231214
Hereditary Methemoglobinemia
Cyanosis ORPHA:621
Mitochondrial Trifunctional Protein Deficiency
Cardiomyopathy, Respiratory insufficiency, Cholestasis, Tricuspid regurgitation, Congestive heart... ORPHA:746
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Ventilator dependence with inability to wean, Intrauterine growth retardation, Respiratory failure OMIM:604320
Pneumocystosis
Respiratory failure requiring assisted ventilation, Hypoxemia, Respiratory failure, Respiratory i... ORPHA:723
Pontocerebellar Hypoplasia Type 1
Respiratory failure ORPHA:2254
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Decreased liver function, Hypertrophic cardiomyopathy, Death in childhood, Respiratory insufficie... OMIM:220110
Axenfeld-Rieger Syndrome, Type 2
Hypoplasia of the maxilla, Mandibular prognathia, Hydrocephalus, Umbilical hernia OMIM:601499
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Respiratory failure OMIM:606612
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus, Respiratory failure ORPHA:1861
Lymphangiectasia, Pulmonary, Congenital
Facial edema, Chylothorax, Edema, Lymphedema, Ascites, Pleural effusion, Mild postnatal growth re... OMIM:265300
Muscular Dystrophy, Duchenne Type
Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Abnormal EKG, Arrhythmia, Respi... OMIM:310200
Irida Syndrome
Intrahepatic cholestasis, Pallor ORPHA:209981
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Intraventricular hemorrhage, Hydrocephalus OMIM:613603
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Tetralogy of Fallot, Cyanosis, Persistent left superior vena cava, Overriding aorta, Double outle... ORPHA:3304
Autoerythrocyte Sensitization Syndrome
Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Intracranial hemorrhage, Ecchymo... ORPHA:324636
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Hypoplasia of the maxilla, Mandibular prognathia OMIM:300676
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Respiratory failure OMIM:613954
Acute Interstitial Pneumonia
Cyanosis, Hypoxemia, Hypertension, Respiratory failure ORPHA:79126
Spastic Paraplegia 16, X-Linked
Hypoplasia of the maxilla OMIM:300266
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Intrauterine growth retardation, Cyanotic episode ORPHA:284417
Propionic Acidemia
Hepatomegaly, Cerebellar hemorrhage, Pancreatitis, Cardiomyopathy OMIM:606054
Cardiac Valvular Dysplasia 2
Aortic regurgitation, Pulmonary artery dilatation, Ascending tubular aorta aneurysm, Tricuspid re... OMIM:620067
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hepatosplenomegaly, Pallor OMIM:611590
Peroxisome Biogenesis Disorder 4A (Zellweger)
Hepatomegaly, Respiratory failure, Death in infancy OMIM:614862
Atrial Septal Defect, Ostium Primum Type
Fixed splitting of the second heart sound, Atrioventricular block, Atrial flutter, Pulmonary arte... ORPHA:99106
Aicardi-Goutieres Syndrome 1
Erythema, Vasculitis, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Sp... OMIM:225750
Idiopathic Hypereosinophilic Syndrome
Portal fibrosis, Elevated circulating hepatic transaminase concentration, Pulmonary embolism, Dil... ORPHA:3260
Eosinophilic Granulomatosis With Polyangiitis
Vasculitis, Respiratory insufficiency, Hypertrophic cardiomyopathy, Recurrent intrapulmonary hemo... ORPHA:183
Cortical Dysplasia, Complex, With Other Brain Malformations 15
Hypoplasia of the maxilla OMIM:618737
Kaposiform Lymphangiomatosis
Epidural hemorrhage, Epistaxis, Abnormal bleeding, Bruising susceptibility, Hepatosplenomegaly, S... ORPHA:464329
Multicentric Carpotarsal Osteolysis Syndrome
Hypoplasia of the maxilla, Micrognathia OMIM:166300
Aarskog-Scott Syndrome
Short stature, Hypoplasia of the maxilla, Delayed eruption of teeth, Umbilical hernia ORPHA:915
Keipert Syndrome
Short stature, Hypoplasia of the maxilla ORPHA:2662
Craniofacial-Deafness-Hand Syndrome
Hypoplasia of the maxilla ORPHA:1529
Acyl-Coa Dehydrogenase 9 Deficiency
Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, Congestive heart... ORPHA:99901
Elliptocytosis 1
Jaundice, Pallor, Splenomegaly OMIM:611804
Combined Oxidative Phosphorylation Deficiency 37
Elevated circulating hepatic transaminase concentration, Decreased liver function, Respiratory in... OMIM:618329
Pycnodysostosis
Rhizomelia, Carious teeth, Disproportionate short-limb short stature, Hypoplasia of the maxilla, ... ORPHA:763
S-Adenosylhomocysteine Hydrolase Deficiency
Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Abnormality of the liver... ORPHA:88618
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Respiratory failure, Death in childhood OMIM:615838
High Altitude Pulmonary Edema
Tachycardia, Hypoxemia, Cyanosis ORPHA:330012
Aspergillosis
Stroke, Intracranial hemorrhage, Hepatitis ORPHA:1163
Nephronophthisis 2
Pulmonary insufficiency, Hypertension, Respiratory failure, Respiratory insufficiency OMIM:602088
Lmna-Related Cardiocutaneous Progeria Syndrome
Aortic valve stenosis, Aortic root aneurysm, Premature skin wrinkling, Congestive heart failure, ... ORPHA:363618
Ciliary Dyskinesia, Primary, 5
Respiratory insufficiency due to defective ciliary clearance, Neonatal respiratory distress, Resp... OMIM:608647
Kagami-Ogata Syndrome
Hypoplasia of the maxilla, Retrognathia, Micrognathia, Splenomegaly, Hepatomegaly, Polyhydramnios OMIM:608149
Wiskott-Aldrich Syndrome
Gingival bleeding, Vasculitis, Hematochezia, Epistaxis, Skin ulcer, Spontaneous hematomas, Recurr... ORPHA:906
Extracranial Carotid Artery Aneurysm
Vasculitis, Total anomalous pulmonary venous return, Arteritis, Atherosclerosis, Cerebral ischemi... ORPHA:494424
Kallmann Syndrome-Heart Disease Syndrome
Aortic regurgitation, Pulmonary artery hypoplasia, Dilated cardiomyopathy, Congestive heart failu... ORPHA:2326
3-Hydroxy-3-Methylglutaric Aciduria
Hypotension, Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, Pal... ORPHA:20
Malan Syndrome
Advanced eruption of teeth, Mandibular prognathia, Retrognathia, Hyperplasia of the premaxilla OMIM:614753
Cohen Syndrome
Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxilla, Leukopenia, Microg... OMIM:216550
Combined Oxidative Phosphorylation Deficiency 3
Dilated cardiomyopathy, Respiratory insufficiency, Concentric hypertrophic cardiomyopathy, Intrau... OMIM:610505
Metatropic Dysplasia
Respiratory failure, Respiratory insufficiency OMIM:156530
Laryngotracheoesophageal Cleft
Neonatal respiratory distress, Cyanosis ORPHA:2004
Frontorhiny
Cranium bifidum occultum, Hypoplasia of the maxilla, Encephalocele, Basal encephalocele, Hypoplas... ORPHA:391474
Kcnq2-Related Epileptic Encephalopathy
Facial erythema, Pallor ORPHA:439218
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Elevated circulating aspartate aminotransferase concentration, Pallor, Death in childhood, Elevat... OMIM:246450
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Abnormal aortic arch morphology, Arteria lusoria, Abnormal descending aorta morphology, Congestiv... ORPHA:99050
Hemorrhagic Fever-Renal Syndrome
Epistaxis, Hypotension, Elevated circulating hepatic transaminase concentration, Subconjunctival ... ORPHA:340
Stormorken Syndrome
Epistaxis, Abnormal bleeding, Bruising susceptibility, Stroke-like episode, Subarachnoid hemorrha... OMIM:185070
Double Outlet Right Ventricle
Pulmonary artery atresia, Tetralogy of Fallot, Heart murmur, Cyanosis, Truncus arteriosus, Coarct... ORPHA:3426
Sandestig-Stefanova Syndrome
Intrauterine growth retardation, Respiratory failure OMIM:618804
Menkes Disease
Gastrointestinal hemorrhage, Spontaneous hematomas, Umbilical hernia, Dry skin, Intrauterine grow... ORPHA:565
Heterotaxy, Visceral, 1, X-Linked
Total anomalous pulmonary venous return, Bilateral superior vena cava, Abdominal situs inversus, ... OMIM:306955
Cerebral Visual Impairment
Intracranial hemorrhage, Ischemic stroke, Hydrocephalus ORPHA:447788
Koolen-De Vries Syndrome Due To A Point Mutation
Cardiomyopathy, Intraventricular hemorrhage, Aortic aneurysm, Ectodermal dysplasia, Hydrocephalus... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Cardiomyopathy, Intraventricular hemorrhage, Aortic aneurysm, Ectodermal dysplasia, Hydrocephalus... ORPHA:363958
Osteopetrosis, Autosomal Recessive 5
Hepatic failure, Hepatosplenomegaly, Splenomegaly, Hydrocephalus, Stillbirth, Hepatomegaly, Respi... OMIM:259720
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Arteritis, Ischemic stroke, Myocardial infarction, Peritonitis, Tela... ORPHA:679
Combined Oxidative Phosphorylation Deficiency 25
Intraventricular hemorrhage OMIM:616430
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cyanosis ORPHA:391428
Staphylococcal Necrotizing Pneumonia
Shock, Hypotension, Hypoxemia, Respiratory failure ORPHA:36238
Tarp Syndrome
Hepatic failure, Subdural hemorrhage, Tetralogy of Fallot, Intrauterine growth retardation, Neona... OMIM:311900
Familial Hyperaldosteronism Type I
Epistaxis, Intracranial hemorrhage, Hypertension ORPHA:403
Familial Hyperaldosteronism Type Ii
Epistaxis, Intracranial hemorrhage, Hypertension ORPHA:404
Mandibulofacial Dysostosis With Alopecia
Hypoplasia of the maxilla, Micrognathia, Trismus, Delayed eruption of primary teeth OMIM:616367
Glycogen Storage Disease Ii
Sinus tachycardia, Respiratory insufficiency, Dilatation of the cerebral artery, Splenomegaly, Wo... OMIM:232300
Letterer-Siwe Disease
Jaundice, Hepatosplenomegaly, Pallor OMIM:246400
Lymphatic Malformation 6
Facial edema, Generalized edema, Chylothorax, Lymphedema, Ascites, Micrognathia, Genital edema, P... OMIM:616843
Fructose-1,6-Bisphosphatase Deficiency
Elevated circulating hepatic transaminase concentration, Pallor, Hepatic steatosis, Hepatomegaly,... ORPHA:348
Pde4D Haploinsufficiency Syndrome
Hypoplasia of the maxilla, Abnormal dental enamel morphology, Postnatal growth retardation, Intra... ORPHA:439822
Crimean-Congo Hemorrhagic Fever
Gingival bleeding, Hepatomegaly, Jaundice, Tachycardia, Purpura, Diffuse alveolar hemorrhage, Bun... ORPHA:99827
Hydranencephaly
Dilatation of the ventricular cavity, Intrauterine growth retardation, Abnormal internal carotid ... ORPHA:2177
Ethylmalonic Encephalopathy
Acrocyanosis, Petechiae ORPHA:51188
Lethal Acantholytic Erosive Disorder
Hypovolemic shock, Cardiomyopathy, Intrauterine growth retardation, Fragile skin, Impaired myocar... ORPHA:158687
Cleft Lip/Palate
Hypoplasia of the maxilla, Dental malocclusion, Peg-shaped maxillary lateral incisors, Abnormalit... ORPHA:199306
Jackson-Weiss Syndrome
Hypoplasia of the maxilla, Mandibular prognathia ORPHA:1540
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Arterioveno... ORPHA:394
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Respiratory failure OMIM:616505
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Epistaxis, Intracranial hemorrhage, Hypertension ORPHA:251274
Dislocation Of The Hip-Dysmorphism Syndrome
Malar flattening, Prominence of the premaxilla ORPHA:2412
Stickler Syndrome Type 1
Hypoplasia of the maxilla ORPHA:90653
Carpenter Syndrome 1
Hypoplasia of the maxilla, Polysplenia, Umbilical hernia, Persistence of primary teeth, Micrognat... OMIM:201000
Lymphatic Malformation 7
Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ... OMIM:617300
Hypomandibular Faciocranial Dysostosis
Hypoplasia of the maxilla, Micrognathia, Malar flattening OMIM:241310
Acrodysostosis 1 With Or Without Hormone Resistance
Hypoplasia of the maxilla, Disproportionate short-limb short stature, Dental malocclusion, Delaye... OMIM:101800
Spinocerebellar Ataxia Type 1
Respiratory failure ORPHA:98755
Laryngeal Abductor Paralysis
Cyanosis OMIM:150260
Systemic Mastocytosis With Associated Hematologic Neoplasm
Hypotension, Pallor, Splenomegaly, Syncope, Hepatomegaly, Tachycardia, Flushing, Urticaria ORPHA:98849
Mandibulofacial Dysostosis-Microcephaly Syndrome
Short stature, Hypoplasia of the maxilla, Micrognathia, Malar flattening ORPHA:79113
Distal Xq28 Microduplication Syndrome
Short stature, Predominantly lower limb lymphedema, Upper eyelid edema, Hypoplasia of the maxilla ORPHA:293939
Mixed-Type Autoimmune Hemolytic Anemia
Tachycardia, Pallor ORPHA:90036
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory insufficiency, Cyanosis, Pulmonary arterial hypertension, Respiratory failure, Hypoxemia OMIM:610913
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Respiratory failure OMIM:607598
Atelosteogenesis, Type Iii
Hypoplasia of the maxilla, Rhizomelia, Micrognathia, Malar flattening OMIM:108721
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hepatomegaly, Cerebellar hemorrhage, Pancreatitis, Cardiomyopathy OMIM:251000
Benign Familial Neonatal Epilepsy
Circumoral cyanosis ORPHA:1949
Obesity-Hypoventilation Syndrome
Cyanosis OMIM:257500
Greenberg Dysplasia
Rhizomelia, Hypoplasia of the maxilla, Disproportionate short-limb short stature, Retrognathia, H... OMIM:215140
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Epistaxis, Second degree atrioventricular block, Pulmonary arterial hypertension, Intracranial he... ORPHA:369929
Melanocytic Nevus Syndrome, Congenital
Prominence of the premaxilla OMIM:137550
Restrictive Dermopathy 2
Intrauterine growth retardation, Cyanosis OMIM:619793
Meier-Gorlin Syndrome 4
Hypoplasia of the maxilla, Intrauterine growth retardation, Micrognathia, Birth length less than ... OMIM:613804
Lujan-Fryns Syndrome
Hypoplasia of the maxilla, Micrognathia ORPHA:776
Glycogen Storage Disease Due To Acid Maltase Deficiency
Vasculitis, Respiratory insufficiency, Hypertrophic cardiomyopathy, Dilatation of the cerebral ar... ORPHA:365
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Recon Progeroid Syndrome
Growth delay, Prominence of the premaxilla, Anemia, Thrombocytopenia, Short stature, Delayed erup... OMIM:620370
3-Methylglutaconic Aciduria Type 7
Hepatic steatosis, Elevated circulating hepatic transaminase concentration, Respiratory failure, ... ORPHA:445038
Crouzon Syndrome
Hypoplasia of the maxilla, Mandibular prognathia, Hydrocephalus OMIM:123500
Structural Heart Defects And Renal Anomalies Syndrome
Interrupted aortic arch, Tetralogy of Fallot, Right aortic arch, Cyanosis, Death in infancy, Trun... OMIM:617478
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Prolonged neonatal jaundice, Jaundice, Pallor, Splenomegaly OMIM:300908
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Pulmonary arterial hypertension, Respiratory failure, Respiratory insufficiency OMIM:613845
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory failure ORPHA:2759
Pulmonary Capillary Hemangiomatosis
Diffuse alveolar hemorrhage, Right ventricular failure, Hemothorax, Cyanosis, Abnormal pulmonary ... ORPHA:199241
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Respiratory failure OMIM:603689
Mitochondrial Complex I Deficiency, Nuclear Type 1
Hepatic failure, Respiratory insufficiency, Hypertrophic cardiomyopathy, Concentric hypertrophic ... OMIM:252010
3-Methylglutaconic Aciduria, Type Viii
Death in infancy, Neonatal death, Respiratory arrest, Bradycardia, Jaundice, Respiratory failure,... OMIM:617248
Isovaleric Acidemia
Cerebellar hemorrhage OMIM:243500
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Atrioventricular block, Acrocyanosis, Bradycardia OMIM:614407
Craniorachischisis
Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Anencephaly ORPHA:63260
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pallor OMIM:600462
Pfeiffer Syndrome
Hypoplasia of the maxilla, Mandibular prognathia, Hydrocephalus OMIM:101600
Pulmonary Alveolar Microlithiasis
Right ventricular failure, Respiratory insufficiency, Oxygen desaturation on exertion, Calcificat... ORPHA:60025
Orofaciodigital Syndrome Ii
Hypoplasia of the maxilla, Micrognathia, Agenesis of central incisor, Malar flattening, Hydroceph... OMIM:252100
Laryngotracheal Angioma
Cyanosis ORPHA:137935
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Left axis dev... OMIM:261740
Eisenmenger Syndrome
Elevated jugular venous pressure, Hepatomegaly, Patent ductus arteriosus, Right ventricular failu... ORPHA:97214
Mitochondrial Complex I Deficiency, Nuclear Type 10
Respiratory failure OMIM:618233
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory failure OMIM:620166
Autosomal Recessive Polycystic Kidney Disease
Hepatic fibrosis, Periportal fibrosis, Gastrointestinal hemorrhage, Cholestasis, Hepatosplenomega... ORPHA:731
Fanconi Anemia, Complementation Group I
Intrauterine growth retardation, Pallor OMIM:609053
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hypotension, Pallor, Pulmonary arterial hypertension, Hydrocephalus, Bradycardia, Hepatomegaly, T... OMIM:277400
Fibrodysplasia Ossificans Progressiva
Respiratory failure, Respiratory insufficiency OMIM:135100
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Umbilical hernia, Intrauterine growth retardation, Large placenta, Redundant neck skin, Respirato... ORPHA:254528
Pearson Marrow-Pancreas Syndrome
Erythema, Hepatic failure, Elevated circulating hepatic transaminase concentration, Exocrine panc... OMIM:557000
Tay-Sachs Disease
Pallor, Cherry red spot of the macula OMIM:272800
Meningioma
Syncope, Hydrocephalus, Cerebral hemorrhage ORPHA:2495
Listeriosis
Arteritis, Congestive heart failure, Cholecystitis, Stroke, Peritonitis, Hepatic granulomatosis, ... ORPHA:533
Beta-Ketothiolase Deficiency
Hepatomegaly, Hypotension, Pallor, Hypertension ORPHA:134
Alg3-Cdg
Cardiomyopathy, Decreased liver function, Neural tube defect, Coarctation of the descending aorti... ORPHA:79321
Congenital Tracheomalacia
Abnormal pulmonary artery morphology, Neonatal respiratory distress, Respiratory insufficiency, T... ORPHA:95430
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Respiratory failure, Death in childhood OMIM:619847
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Intrauterine growth retardation, Respiratory failure, Patent ductus arteriosus OMIM:620327
Idiopathic Pulmonary Fibrosis
Pulmonary insufficiency, Orthodeoxia, Acrocyanosis ORPHA:2032
Cone-Rod Dystrophy 8
Pallor, Retinal arteriolar constriction OMIM:605549
Oculodentodigital Dysplasia, Autosomal Recessive
Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxilla, Dental malocclusio... OMIM:257850
Cryptogenic Organizing Pneumonia
Hypoxemia, Cyanosis ORPHA:1302
Congenital Myopathy 10B, Mild Variant
Respiratory failure OMIM:620249
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Exencephaly ORPHA:2211
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Interrupted aortic arch, Respiratory insufficiency, Absent gallbladder, Hydrocephalus, Heart murm... ORPHA:163979
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Hepatomegaly, Hepatosplenomegaly, Elevated circulating hepatic transaminase concentration, Pallor ORPHA:331206
Hereditary Motor And Sensory Neuropathy, Type Iic
Respiratory failure, Intercostal muscle weakness OMIM:606071
Hypoadrenocorticism, Familial
Cyanosis OMIM:240200
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Hypoplasia of the maxilla OMIM:218000
Aortic Arch Interruption
Aortic regurgitation, Congestive heart failure, Tricuspid regurgitation, Shock, Abnormal ascendin... ORPHA:2299
Truncus Arteriosus
Abnormal coronary artery morphology, Single coronary artery origin, Tachycardia, Patent ductus ar... ORPHA:3384
Mercury Poisoning
Tachycardia, Hypotension, Hypertension, Respiratory failure ORPHA:330021
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Proximal Spinal Muscular Atrophy
Neonatal respiratory distress, Intercostal muscle weakness, Bradycardia, Respiratory failure, Res... ORPHA:70
Absence Of The Pulmonary Artery
Atrial flutter, Abnormal coronary artery morphology, Congestive heart failure, Tetralogy of Fallo... ORPHA:980
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Abnormal T-wave, Palpitations, Intracranial hemorrhage, Hypertension ORPHA:231625
Heterotaxy, Visceral, 7, Autosomal
Interrupted aortic arch, Pulmonary artery hypoplasia, Total anomalous pulmonary venous return, Po... OMIM:616749
Necrotizing Enterocolitis
Hypotension, Shock, Cyanosis, Peritonitis, Bradycardia ORPHA:391673
Andersen Cardiodysrhythmic Periodic Paralysis
Hypoplasia of the maxilla, Persistence of primary teeth, Micrognathia, Malar flattening, Prominen... OMIM:170390
Bannayan-Riley-Ruvalcaba Syndrome
Arteriovenous malformation, Subcutaneous hemorrhage, Cutis marmorata, Telangiectasia, Angina pect... ORPHA:109
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory failure OMIM:617895
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Hepatosplenomegaly, Elevated circulating hepatic transaminase concentration, Pallor, Elevated hep... ORPHA:300298
Microcephaly-Capillary Malformation Syndrome
Short stature, Hypoplasia of the maxilla OMIM:614261
Aregenerative Anemia
Abnormal bleeding, Pallor, Bruising susceptibility ORPHA:101096
Congenital Myasthenic Syndrome
Respiratory arrest, Intermittent episodes of respiratory insufficiency due to muscle weakness, Cy... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Respiratory arrest, Intermittent episodes of respiratory insufficiency due to muscle weakness, Cy... ORPHA:98914
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Hypoplasia of the maxilla, Cholelithiasis, Micrognathia, Short stature, Mandibular prognathia OMIM:300534
Osteogenesis Imperfecta, Type Xvii
Intraventricular hemorrhage OMIM:616507
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Scedosporiosis
Respiratory failure, Pericarditis ORPHA:449280
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Hypoplasia of the maxilla, Micrognathia OMIM:301108
Cleft Larynx, Posterior
Cyanosis OMIM:215800
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Dilated cardiomyopathy, Pulmonary embolism, Subdural hemorrhage, Intrauterine growth retardation,... ORPHA:79282
Cleft Velum
Hypoplasia of the maxilla ORPHA:99772
Acute Liver Failure
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Hypotension... ORPHA:90062
Dyskeratosis Congenita
Hypoplasia of the maxilla, Carious teeth, Hepatic failure, Intrauterine growth retardation, Splen... ORPHA:1775
Dysostosis, Stanescu Type
Hypoplasia of the maxilla, Carious teeth, Hypoplasia of the zygomatic bone, Abnormal dental ename... ORPHA:1798
Infantile Krabbe Disease
Respiratory failure, Abnormal heart rate variability, Cherry red spot of the macula ORPHA:206436
Rajab Interstitial Lung Disease With Brain Calcifications 1
Elevated circulating hepatic transaminase concentration, Decreased liver function, Respiratory in... OMIM:613658
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Hydrocephalus, Respiratory failure OMIM:616538
Retinitis Pigmentosa 75
Pallor OMIM:617023
Congenital Multicore Myopathy With External Ophthalmoplegia
Respiratory failure ORPHA:98905
Meier-Gorlin Syndrome 5
Hypoplasia of the maxilla, Intrauterine growth retardation, Micrognathia, Birth length less than ... OMIM:613805
Von Hippel-Lindau Disease
Cardiomyopathy, Palpitations, Pallor, Stroke, Myocardial infarction, Arrhythmia, Pancreatic islet... ORPHA:892
Distal Limb Deficiencies-Micrognathia Syndrome
Short stature, Hypoplasia of the maxilla, Microretrognathia ORPHA:1307
Chronic Pneumonitis Of Infancy
Hypoxemia, Cyanosis ORPHA:91359
Refractory Anemia With Excess Blasts
Retinal hemorrhage, Anemic pallor, Palpitations, Abnormal bleeding ORPHA:86839
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Dilation of Virchow-Robin spaces, Retinal arteriolar tortuosity, Ischemic stroke, Corneal neovasc... OMIM:175780
Severe Congenital Nemaline Myopathy
Respiratory failure ORPHA:171430
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Hypoplasia of the maxilla, Microretrognathia ORPHA:228396
Hutchinson-Gilford Progeria Syndrome
Aortic valve stenosis, Mitral regurgitation, Left