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Gene: Braf MGI:88190

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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:
Braf transforming gene
Synonyms:
9930012E13Rik,  Braf-2,  D6Ertd631e,  Braf2

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 Braf mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Noonan Syndrome With Multiple Lentigines
Abnormal endocardium morphology, Bundle branch block, Hypospadias, Abnormal pulmonary valve morph... ORPHA:500
Cardiofaciocutaneous Syndrome 1
Micrognathia, Hyperhidrosis, High palate, Sparse hair, Atrial septal defect, Absent eyebrow, Abse... OMIM:115150
Cardiofaciocutaneous Syndrome
Brittle hair, High palate, Biparietal narrowing, Sparse hair, Atrial septal defect, Dystrophic fi... ORPHA:1340
Noonan Syndrome 7
Curly hair, Large for gestational age, Dolichocephaly, Lentigo maligna melanoma, Low posterior ha... OMIM:613706
Lung Cancer
Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma OMIM:211980
Craniopharyngioma
Enlarged pituitary gland, Papilledema, Hypogonadotropic hypogonadism, Neoplasm of the anterior pi... ORPHA:54595
Leopard Syndrome 3
Few cafe-au-lait spots, Curly hair, Low posterior hairline, Seizure, Abnormal aortic valve morpho... OMIM:613707
Cushing Disease
Adrenal hyperplasia, Myocardial infarction, Pituitary corticotropic cell adenoma, Increased body ... ORPHA:96253
Melanoma, Cutaneous Malignant, Susceptibility To, 1
Uveal melanoma, Cutaneous melanoma OMIM:155600
Colorectal Cancer
Hereditary nonpolyposis colorectal carcinoma, Neoplasm of the stomach, Renal cell carcinoma, Uter... OMIM:114500
Syringocystadenoma Papilliferum
Sparse scalp hair ORPHA:840

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
7q11.23 duplication syndrome
Short attention span DECIPHER:43
Presenile Dementia, Kraepelin Type
Dementia OMIM:176600
Monoamine Oxidase A Deficiency
Cognitive impairment ORPHA:3057
Reversible Cerebral Vasoconstriction Syndrome
Abnormal bleeding, Carotid artery dissection, Transient ischemic attack, Cerebral hemorrhage, Sub... ORPHA:284388
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Left atrial enlargement, Cerebral hem... OMIM:619897
Aneurysm, Intracranial Berry, 12
Internal carotid artery dissection, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Arterial... OMIM:618734
Familial Cervical Artery Dissection
Carotid artery dissection, Transient ischemic attack, Subarachnoid hemorrhage, Recurrent cerebral... ORPHA:36382
Hemophilia A
Gastrointestinal hemorrhage, Intraventricular hemorrhage, Intracranial hemorrhage, Joint swelling... ORPHA:98878
Tuberous Sclerosis Complex
Respiratory distress, Angiofibromas, Pancreatic endocrine tumor, Renal cyst, Subependymal giant-c... ORPHA:805
Moderate Hemophilia A
Abnormal bleeding, Gastrointestinal hemorrhage, Epidural hemorrhage, Prolonged bleeding after den... ORPHA:169805
Abetal34V Amyloidosis
Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage ORPHA:324703
Placental Insufficiency
Abnormal umbilical cord blood vessel morphology, Proportionate short stature, Small placenta, Abn... ORPHA:439167
Congenital Heart Block
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Patent foramen ovale, C... ORPHA:60041
Cerebral Cavernous Malformations 2
Cerebral cavernous malformation, Stroke, Cerebral hemorrhage, Telangiectasia OMIM:603284
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia OMIM:614896
Internal Carotid Absence
Dilatation of the cerebral artery, Cerebral ischemia, Subarachnoid hemorrhage ORPHA:981
Cerebral Amyloid Angiopathy, Cst3-Related
Intracranial hemorrhage, Stroke, Cerebral hemorrhage OMIM:105150
Abeta Amyloidosis, Italian Type
Stroke, Cerebral hemorrhage ORPHA:324713
Carney Complex, Type 1
Elevated circulating growth hormone concentration, Cardiac myxoma, Pituitary adenoma, Palatine my... OMIM:160980
Atrial Standstill
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... ORPHA:1344
Coenzyme Q10 Deficiency, Primary, 7
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Bradycardia, Intraut... OMIM:616276
Long Qt Syndrome 16
Patent ductus arteriosus after birth at term, T-wave alternans, Second degree atrioventricular bl... OMIM:618782
Cerebral Cavernous Malformations 3
Cerebral cavernous malformation, Cerebral hemorrhage OMIM:603285
Aneurysm, Intracranial Berry, 2
Cerebral berry aneurysm, Subarachnoid hemorrhage OMIM:608542
Aneurysm, Intracranial Berry, 1
Intracranial hemorrhage, Dilatation of the cerebral artery OMIM:105800
Abeta Amyloidosis, Iowa Type
Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage ORPHA:324708
Multiple Endocrine Neoplasia Type 1
Anorexia, Pituitary corticotropic cell adenoma, Angiofibromas, Pituitary gonadotropic cell adenom... ORPHA:652
Renal Hypoplasia, Bilateral
Failure to thrive, Proteinuria, Small for gestational age, Cryptorchidism, Chronic kidney disease... ORPHA:97362
Medullary Thyroid Carcinoma
Neoplasm of the skeletal system, Primary hyperparathyroidism, Elevated circulating calcitonin con... ORPHA:1332
Cerebral Cavernous Malformations
Intracranial hemorrhage, Cerebral cavernous malformation OMIM:116860
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Purpura, Cerebral hemorrhage, Pulmonary embolism OMIM:614514
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... OMIM:617280
Periventricular Nodular Heterotopia 1
Patent ductus arteriosus, Stroke, Bicuspid aortic valve, Cerebral hemorrhage OMIM:300049
Pheochromocytoma/Paraganglioma Syndrome 1
Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Tachycardia, ... OMIM:168000
Immune Thrombocytopenia
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Bruising suscepti... ORPHA:3002
Neurofibromatosis Type 1
Astrocytoma, Multiple lipomas, Neoplasm, Pheochromocytoma, Heterochromia iridis, Spinal neurofibr... ORPHA:636
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Anorexia, Leukocytosis, Cervical lymphadenopathy, Oliguria, Central hyp... ORPHA:514
Atrial Fibrillation, Familial, 10
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Left atrial enlargement,... OMIM:614022
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Transient ischemic attack, Cerebral hemorrhage, Arterial stenosis, Intracranial hemorrhage, Hyper... ORPHA:136
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Cryptorchidism, Hypo... ORPHA:3282
Familial Afibrinogenemia
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Joint swelling, Gingival bleeding ORPHA:98880
Cardiocranial Syndrome, Pfeiffer Type
Contracture of the proximal interphalangeal joint of the 2nd finger, Hypospadias, Episodic tachyp... ORPHA:2872
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Atypical Rett Syndrome
Restrictive behavior, Generalized myoclonic seizure, Episodic tachypnea, Infantile spasms, Sudden... ORPHA:3095
Hereditary Amyloidosis With Primary Renal Involvement
Intestinal perforation, Tubulointerstitial nephritis, Nephropathy, Decreased glomerular filtratio... ORPHA:85450
Circumvallate Placenta Syndrome
Intracranial hemorrhage, Polyhydramnios OMIM:215550
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia OMIM:611938
1P31P32 Microdeletion Syndrome
Intraventricular hemorrhage, Moyamoya phenomenon ORPHA:401986
Phakomatosis Pigmentokeratotica
Rhabdomyosarcoma, Precocious puberty, Cryptorchidism, Raynaud phenomenon, Hyperhidrosis, Unilater... ORPHA:2874
Sporadic Pheochromocytoma/Secreting Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Proteinuria, Cerebral hemorrhage, ... ORPHA:276621
Congenital Factor Xiii Deficiency
Epistaxis, Cerebral hemorrhage, Joint hemorrhage, Prolonged bleeding after surgery, Post-partum h... ORPHA:331
Hereditary Pheochromocytoma-Paraganglioma
Arachnoid hemangiomatosis, Episodic hyperhidrosis, Cranial nerve compression, Adrenal pheochromoc... ORPHA:29072
Sneddon Syndrome
Bicuspid aortic valve, Cerebral hemorrhage, Hypertension, Stroke, Ischemic stroke OMIM:182410
Pheochromocytoma/Paraganglioma Syndrome 3
Extraadrenal pheochromocytoma, Tachycardia, Hyperhidrosis, Chemodectoma, Glomus jugular tumor, Ad... OMIM:605373
Pheochromocytoma--Islet Cell Tumor Syndrome
Tachycardia, Proteinuria, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive ... OMIM:171420
Chronic Atrial And Intestinal Dysrhythmia
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Bicuspid aortic valve, Left atria... OMIM:616201
Grfoma
Anorexia, Neoplasm of the thymus, Pheochromocytoma, Hepatomegaly, Intermittent jaundice, Increase... ORPHA:97261
Recurrent Respiratory Papillomatosis
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... ORPHA:60032
Systemic Capillary Leak Syndrome
Renal insufficiency, Pericarditis, Myocarditis, Leukocytosis, Oliguria, Weight loss, Pancreatitis... ORPHA:188
Congenitally Uncorrected Transposition Of The Great Arteries
Cardiac shunt, Maternal diabetes, Cardiomegaly, Tachypnea, Dextrotransposition of the great arter... ORPHA:860
Fibronectin Glomerulopathy
Hypertension, Cerebral hemorrhage, Pedal edema ORPHA:84090
Wyburn-Mason Syndrome
Peripheral arteriovenous fistula, Epistaxis, Subarachnoid hemorrhage, Abnormal cerebral vascular ... ORPHA:53719
Oligomeganephronia
Renal insufficiency, Proteinuria, Small for gestational age, Unilateral renal agenesis, Micrognat... ORPHA:2260
Aortic Aneurysm, Familial Thoracic 4
Aortic regurgitation, Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebr... OMIM:132900
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Cerebral hemorrhage, Dilated cardiomyopathy, Hypertension, Ischemic stroke, Coronary artery ather... ORPHA:280679
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Pyruvate Dehydrogenase Deficiency
Frontal bossing, Ataxia, Dyspnea, Tachypnea, Choreoathetosis, Multiple lipomas, Seizure, Gait dis... ORPHA:765
Methanol Poisoning
Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atrial fibrillat... ORPHA:31825
Familial Cerebral Saccular Aneurysm
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... ORPHA:231160
Dural Sinus Malformation
Cerebral hemorrhage, Subarachnoid hemorrhage, Vascular dilatation, Myelopathy, Cerebellar hemorrh... ORPHA:97339
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Inguinal hernia, Micrognathia, Cryptorchidism, Patent ductus arteriosus, Tachypnea, Methylmalonic... OMIM:614857
Familial Aortic Dissection
Aortic regurgitation, Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus,... ORPHA:229
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Decreased response to growth hormone stimulation test, Crackles, Elevated c... OMIM:610978
Multiple Endocrine Neoplasia Type 2
Multiple mucosal neuromas, Prominent corneal nerve fibers, Hyperhidrosis, Elevated circulating pa... ORPHA:653
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Polycystic liver disease, Hepatic cysts,... ORPHA:730
Adenine Phosphoribosyltransferase Deficiency
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis... ORPHA:976
Juvenile Neuronal Ceroid Lipofuscinosis
Optic disc pallor, Tachycardia, Bilateral tonic-clonic seizure, Apnea, Episodic tachypnea, Hyperh... ORPHA:79264
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Proteinuria, Failure to thrive in infancy, Aggressive behavior, Chronic kidney disease, Tubuloint... ORPHA:488627
Lcat Deficiency
Hemolytic anemia, Renal insufficiency, Proteinuria, Corneal opacity, Stage 5 chronic kidney disea... ORPHA:650
Pheochromocytoma
Tachycardia, Proteinuria, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive ... OMIM:171300
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617173
Laurence-Moon Syndrome
Renal insufficiency, Hypoplasia of penis, Ataxia, Cataract, Cryptorchidism, Congenital hepatic fi... ORPHA:2377
Aorto-Ventricular Tunnel
Ventricular hypertrophy, Abnormal heart valve morphology, Abnormal coronary artery morphology, Ao... ORPHA:3400
Pseudo-Torch Syndrome 2
Cerebral hemorrhage, Secundum atrial septal defect, Patent ductus arteriosus, Bradycardia, Pleura... OMIM:617397
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... ORPHA:216694
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Medial calcification of large arteries, Angina pectoris, Premature o... OMIM:177850
Potocki-Shaffer Syndrome
Nephroblastoma, Micrognathia, Parietal foramina, Brachycephaly, Seizure, Hypertension, Delayed pu... ORPHA:52022
Myopathy, Myofibrillar, 1
Dilated cardiomyopathy, Third degree atrioventricular block, Bradycardia, Restrictive cardiomyopa... OMIM:601419
Propionic Acidemia
Hepatomegaly, Pancytopenia, Increased level of hippuric acid in urine, Apnea, Thrombocytopenia, C... OMIM:606054
Multiple Endocrine Neoplasia, Type Iia
Hyperparathyroidism, Aganglionic megacolon, Thyroid C cell hyperplasia, Elevated urinary norepine... OMIM:171400
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Aggressive behavior, Brachycephaly, Focal tonic seizure, Self-injurious behavior, Seizure, Myoclo... OMIM:300699
Tako-Tsubo Cardiomyopathy
Abnormal coronary artery morphology, Prolonged QTc interval, Mildly reduced left ventricular ejec... ORPHA:66529
Microcephaly-Microcornea Syndrome, Seemanova Type
Cataract, Brachycephaly, Microcornea, Hypogonadism, High palate, Retrognathia ORPHA:2528
Timothy Syndrome
Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Ventric... OMIM:601005
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Neoplasm of the stomach, Pancreatoblastoma, Pituitary corticotropic cell ade... ORPHA:99889
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Hepatomegaly, Ataxia, Dilated cardiomyopathy, Optic atrophy, Tachypnea, Res... OMIM:614299
Williams-Beuren Region Duplication Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Unilateral rena... OMIM:609757
17Q11 Microdeletion Syndrome
Multiple mucosal neuromas, Brain neoplasm, Elevated circulating parathyroid hormone level, Pheoch... ORPHA:97685
Non-Functioning Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... ORPHA:94080
Neurofibromatosis, Type I
Inguinal freckling, Astrocytoma, Rhabdomyosarcoma, Axillary freckling, Neurofibroma, Multiple caf... OMIM:162200
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Mandibular prognathia, Low anterior hairline, Brachycephaly, High palate, Ocular anterior segment... ORPHA:369891
Atrial Standstill 2
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dilatation of the ventricular cavity, Ca... OMIM:615745
Acquired Aneurysmal Subarachnoid Hemorrhage
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch... ORPHA:90065
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Shock, Neutrophilia, Diabetes mellitus, Pneumonia, Cough, Nonproductive cou... ORPHA:36238
Leukoencephalopathy With Calcifications And Cysts
Stroke, Cerebral hemorrhage ORPHA:542310
Carney Triad
Gastrointestinal hemorrhage, Tachycardia, Anorexia, Gastrointestinal stroma tumor, Mediastinal ly... ORPHA:139411
Gomez-Lopez-Hernandez Syndrome
Hyperactivity, Alopecia, Ataxia, Decreased response to growth hormone stimulation test, Turriceph... OMIM:601853
Gómez-López-Hernández Syndrome
Turricephaly, Ataxia, Corneal opacity, Brachycephaly, Alopecia of scalp, Midface retrusion ORPHA:1532
Erythrocytosis, Familial, 2
Cerebral hemorrhage, Varicose veins, Stroke, Hypotension, Pulmonary arterial hypertension OMIM:263400
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Abnormal EKG, Abnormal atrioventricular conduction, Maternal diabetes, Larg... ORPHA:45452
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Congestive heart failure, Bradycardia, Left ventricular hypertrophy, Int... OMIM:619048
Coronary Arterial Fistula
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Tachypnea, Right ventricular dilata... ORPHA:2041
1Q21.1 Microduplication Syndrome
Frontal bossing, Cataract, Hypospadias, Cryptorchidism, Tetralogy of Fallot, Attention deficit hy... ORPHA:250994
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Necrotizing enterocolitis, Dicarboxylic aciduria, Bilateral tonic-clonic seizure, S... OMIM:201475
Pheochromocytoma/Paraganglioma Syndrome 4
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Tachycardia, Elevated urinary cate... OMIM:115310
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Neonatal death, Bradycardia OMIM:620265
Dengue Fever
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Ascites, Gingival bleeding, Hypotens... ORPHA:99828
Lysinuric Protein Intolerance
Decreased response to growth hormone stimulation test, Tubulointerstitial nephritis, Renal fibros... ORPHA:470
Adenine Phosphoribosyltransferase Deficiency
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ... OMIM:614723
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Neonatal death, Intraventricular hemorrhage, Prolonged prothrombin time, Intrauterine growth reta... OMIM:619055
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Patent foramen ovale, Bradycardia OMIM:617182
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Short stature, Postnatal growth retardation, Severe postnatal growth retardation, Severe intraute... ORPHA:73272
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Frontal bossing, Meckel diverticulum, Episodic tachypnea, Micrognathia, Seizure, Apneic episodes ... ORPHA:163961
Peroxisomal Acyl-Coa Oxidase Deficiency
Hepatomegaly, Frontal bossing, Optic atrophy, Brachycephaly, Pigmentary retinopathy, Seizure, Dys... OMIM:264470
Methylmalonic Acidemia With Homocystinuria Type Cblf
Intraventricular hemorrhage, Intrauterine growth retardation, Abnormal heart morphology ORPHA:79284
Combined Oxidative Phosphorylation Deficiency 10
Cardiomegaly, Pericardial effusion, Pleural effusion, Bradycardia, Intrauterine growth retardatio... OMIM:614702
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Cerebral hemorrhage, Dilated cardiomyopathy, Abnormal left ventricle morphology, Stroke-like epis... OMIM:300845
Holocarboxylase Synthetase Deficiency
Respiratory distress, Alopecia, Ataxia, Anorexia, Tachypnea, Weight loss, Keratoconjunctivitis, S... ORPHA:79242
Atrial Septal Defect 6
Atrial septal defect, Atrial fibrillation, Bradycardia OMIM:613087
Fibromuscular Dysplasia, Arterial
Myocardial infarction, Renovascular hypertension, Stroke, Intermittent claudication, Aortic disse... OMIM:135580
Sepsis In Premature Infants
Hepatomegaly, Small for gestational age, Splenomegaly, Leukocytosis, Thrombocytopenia, Neutropeni... ORPHA:90051
Non-Distal Duplication 10Q
Frontal bossing, Micrognathia, Cryptorchidism, Brachycephaly, Abnormality of the urinary system, ... ORPHA:1695
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Pancreatic cysts, Pulmonary capillary hemangiomatosis, Spinal hemangiob... OMIM:193300
Lassa Fever
Jaundice, Oliguria, Increased circulating IgM level, Conjunctivitis, Dysphagia ORPHA:99824
Diffuse Cutaneous Systemic Sclerosis
Renal insufficiency, Malabsorption, Carious teeth, Flexion contracture, Xerostomia, Oliguria, Dys... ORPHA:220393
Cerebral Amyloid Angiopathy, App-Related
Tortuous cerebral arteries, Subarachnoid hemorrhage, Cerebellar hemorrhage, Recurrent cerebral he... OMIM:605714
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypopigmentation of hair, Ataxia, Inability to walk, Congestive heart failure, Brachycephaly, Abn... ORPHA:70472
Congenital Factor V Deficiency
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... ORPHA:326
Autosomal Recessive Polycystic Kidney Disease
Polydipsia, Cholangitis, Micrognathia, Biliary hyperplasia, Abnormal intrahepatic bile duct morph... ORPHA:731
Inverted Duplicated Chromosome 15 Syndrome
Frontal bossing, Hyperactivity, Ventricular septal defect, Unilateral renal agenesis, Aggressive ... ORPHA:3306
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect, Patent ductus arteriosus, Peripheral arterial stenosis, Pedal edema, S... OMIM:126320
2Q23.1 Microdeletion Syndrome
Hypoplasia of penis, Hyperactivity, Ataxia, Highly arched eyebrow, Cryptorchidism, Synophrys, Par... ORPHA:228402
Erythrocytosis, Familial, 1
Hypertension, Cerebral hemorrhage, Myocardial infarction OMIM:133100
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy... OMIM:617222
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Renal insufficiency, Renal tubular atrophy, Nephropathy, Nephritis, Decreased glomerular filtrati... OMIM:162000
Complete Atrioventricular Septal Defect
Crackles, Cardiomegaly, Tachypnea, Atrioventricular block, Primum atrial septal defect, Hyperhidr... ORPHA:1329
Distal Duplication 14Q
Patent ductus arteriosus, Abnormal aortic morphology ORPHA:1705
Glanzmann Thrombasthenia 1
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Subdural hemorrhage, Intracrania... OMIM:273800
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Anorexia, Neoplasm of the larynx, Oral-pharyngeal dysphagi... ORPHA:100083
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra... OMIM:610655
Hereditary Hemorrhagic Telangiectasia
Conjunctival telangiectasia, Gastrointestinal hemorrhage, Peripheral arteriovenous fistula, Trans... ORPHA:774
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency
Seizure, Ataxia, Brachycephaly ORPHA:404493
Sneddon Syndrome
Intracranial hemorrhage, Hypertension, Arterial stenosis ORPHA:820
Polycythemia Vera
Gastrointestinal hemorrhage, Cerebral ischemia, Budd-Chiari syndrome, Cerebral hemorrhage OMIM:263300
Combined Oxidative Phosphorylation Deficiency 25
Intraventricular hemorrhage OMIM:616430
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... OMIM:616117
Intellectual Developmental Disorder, X-Linked 1
Bilateral tonic-clonic seizure, Aggressive behavior, Brachycephaly, Seizure, Atonic seizure OMIM:309530
Snakebite Envenomation
Abnormal bleeding, Tachycardia, Epistaxis, Myocardial infarction, Edema, Cardiogenic shock, Angio... ORPHA:449285
Fixed Subaortic Stenosis
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... ORPHA:3092
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Prolonged prothrombin time, Ecchymosis, Bruisi... OMIM:277450
Smith-Magenis Syndrome
Mandibular prognathia, Hyperactivity, Synophrys, Abnormal renal morphology, Self hugging, Increas... OMIM:182290
Partial Atrioventricular Septal Defect
Bicuspid aortic valve, Abnormal tricuspid valve morphology, Bacterial endocarditis, Atrial arrhyt... ORPHA:1330
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, P... OMIM:115200
Factor Xiii, A Subunit, Deficiency Of
Abnormal bleeding, Epistaxis, Intracranial hemorrhage, Spontaneous hematomas, Abnormal umbilical ... OMIM:613225
Familial Short Qt Syndrome
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... ORPHA:51083
Glycogen Storage Disease Ib
Hepatomegaly, Proteinuria, Pancreatic fibrosis, Hepatocellular carcinoma, Splenomegaly, Neutropen... OMIM:232220
Hemorrhagic Fever-Renal Syndrome
Anuria, Proteinuria, Glomerulonephritis, Thrombocytopenia, Leukocytosis, Chronic kidney disease, ... ORPHA:340
Pierpont Syndrome
Cryptorchidism, Brachycephaly, Micropenis, Abnormal peripheral nervous system morphology, Seizure... OMIM:602342
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia OMIM:616277
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Cardiomegaly, Descending thoracic aorta aneurysm, Abnormal left ventricula... ORPHA:91387
Congenital Factor Ii Deficiency
Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part... ORPHA:325
Lujo Hemorrhagic Fever
Lymphopenia, Renal insufficiency, Myocarditis, Leukocytosis, Fulminant hepatitis, Oliguria, Hyper... ORPHA:319213
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Hydrops fetalis, Bradycardia OMIM:618815
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
High Altitude Pulmonary Edema
Orthopnea, Tachycardia, Anorexia, Crackles, Dyspnea, Leukocytosis, Tachypnea, Hypoxemia, Cough ORPHA:330012
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Left ventricular outflow tract obstruction, Coarctation of aorta, Hypo... OMIM:615779
Factor Vii Deficiency
Abnormal bleeding, Epistaxis, Joint hemorrhage, Intracranial hemorrhage, Menorrhagia, Bruising su... OMIM:227500
Methionine Malabsorption Syndrome
White hair, Blue irides, Tachypnea, Seizure, Aminoaciduria OMIM:250900
Mitochondrial Complex I Deficiency, Nuclear Type 13
Hypertrophic cardiomyopathy, Bradycardia, Cardiac arrest OMIM:618235
Xq28 (MECP2) duplication
Inability to walk, Functional abnormality of the bladder, Brachycephaly, Gait ataxia, Dysphagia, ... DECIPHER:45
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Tachypnea, Cor pulmonale, Respiratory failure, Cough, Failure to thrive, Tu... OMIM:263000
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Atrioventricular block, Abnormal heart morphology, Right bundle... OMIM:614954
Multiple Endocrine Neoplasia, Type Iib
Colonic diverticula, Failure to thrive in infancy, Aganglionic megacolon, High, narrow palate, El... OMIM:162300
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Peripheral axonal degeneration, Small for gestational age, Urinary incontinence, Camptodactyly of... OMIM:604320
Familial Multiple Nevi Flammei
Edema, Pulmonary embolism, Venous insufficiency, Intracranial hemorrhage, Arteriovenous malformat... ORPHA:624
Fanconi Renotubular Syndrome 2
Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Renal phosphate wast... OMIM:613388
Recombinant Chromosome 8 Syndrome
Ventricular septal defect, Micrognathia, Cryptorchidism, Patent ductus arteriosus, Brachycephaly,... OMIM:179613
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Frontal bossing, Small for gestational age, Cardiomegaly, Tachypnea, Hypertension, Pulmonary arte... OMIM:613320
Primary Pulmonary Hypoplasia
Neonatal respiratory distress, Ureteral stenosis, Apnea, Dextrocardia, Micrognathia, Secundum atr... ORPHA:2257
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Turricephaly, Renal agenesis, Hypospadias, Craniosynostosis, Micrognathia, Cryptorchidism, Patent... ORPHA:171839
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome... OMIM:618061
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Avian Influenza
Respiratory distress, Lymphopenia, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tac... ORPHA:454836
Afibrinogenemia, Congenital
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Hematemesis, Prolonged bleeding following circ... OMIM:202400
Orthostatic Hypotension 2
Anemia, Decreased glomerular filtration rate OMIM:618182
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity, Cataract, Small for gestational age, Increased serum serotonin, Hirsutism ORPHA:85288
Intellectual Developmental Disorder, Autosomal Dominant 26
Hyperactivity, Inguinal hernia, Small for gestational age, Highly arched eyebrow, Micrognathia, B... OMIM:615834
Primary Hyperoxaluria Type 1
Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 chronic kidn... ORPHA:93598
Pheochromocytoma/Paraganglioma Syndrome 7
Pheochromocytoma, Paraganglioma OMIM:618475
Hereditary Renal Hypouricemia
Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Uric acid urolithiasis indepe... ORPHA:94088
Progressive Familial Heart Block, Type Ib
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... OMIM:604559
Aminoacylase 1 Deficiency
Bradycardia OMIM:609924
Orofaciodigital Syndrome Type 6
Frontal bossing, Ataxia, Apnea, Hamartoma of tongue, Highly arched eyebrow, Bilateral cryptorchid... ORPHA:2754
Brain Small Vessel Disease 2
Intracranial hemorrhage OMIM:614483
3-Hydroxy-3-Methylglutaric Aciduria
Hepatomegaly, Acute pancreatitis, Ketonuria, Ataxia, Apnea, Anorexia, Cardiac arrest, Leukocytosi... ORPHA:20
Hypouricemia, Renal, 1
Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co... OMIM:220150
Genetic Recurrent Myoglobinuria
Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Oliguri... ORPHA:99845
8Q12 Microduplication Syndrome
Atrial septal defect, Ventricular septal defect, Highly arched eyebrow, Brachycephaly, Attention ... ORPHA:228399
X-Linked Intellectual Disability, Sutherland-Haan Type
Mandibular prognathia, Small for gestational age, Hypoplasia of the maxilla, Brachycephaly, Decre... ORPHA:93950
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Cardiomegaly, Tachypnea, Ventricular tachycardia, Atrioventricula... ORPHA:137675
Sting-Associated Vasculopathy, Infantile-Onset
Lymphopenia, Increased circulating IgA level, Follicular hyperplasia, Raynaud phenomenon, Tachypn... OMIM:615934
Mitochondrial Trifunctional Protein Deficiency 2
Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomyopathy, Mitral regurgitation, Hypot... OMIM:620300
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities
Brachycephaly, Seizure, Inappropriate laughter, High anterior hairline, Recurrent hand flapping OMIM:618859
Chromosome 2Q37 Deletion Syndrome
Hyperactivity, Highly arched eyebrow, Aggressive behavior, Hypothyroidism, Obesity, Brachycephaly... OMIM:600430
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Dyspnea, Tachypnea, Crescentic glomerulonephritis, Restrictive ventilatory defect, Cough, Decreas... OMIM:616414
Beta-Ketothiolase Deficiency
Hepatomegaly, Ketonuria, Ataxia, Thrombocytosis, Anorexia, Leukocytosis, Tachypnea, Weight loss, ... ORPHA:134
Congenital Muscular Dystrophy, Fukuyama Type
Cataract, Camptodactyly of finger, Dilated cardiomyopathy, Optic atrophy, Brachycephaly, Flexion ... ORPHA:272
Silver-Russell Syndrome Due To A Point Mutation
Postnatal growth retardation, Intrauterine growth retardation, Small placenta, Oligohydramnios ORPHA:397590
Distal Renal Tubular Acidosis
Hemolytic anemia, Hyperphosphaturia, Failure to thrive, Hypocitraturia, Nephrolithiasis, Renal cy... ORPHA:18
Insulinoma Tumor Suppressor Gene Locus
Insulinoma OMIM:606960
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Tricuspid regurgitation, Patent ductus arteriosus, Tachypnea, Reduced left ... OMIM:616501
Joubert Syndrome 7
Central apnea, Ataxia, Episodic tachypnea, Tachypnea, Stage 5 chronic kidney disease, Renal cyst,... OMIM:611560
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Optic disc pallor, Ataxia, Tachypnea, Respiratory failure, Gait disturbance, Loss of ambulation, ... OMIM:615838
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Nephropathy, Decreased glomerular filtration rate OMIM:242530
Craniofacial Dyssynostosis With Short Stature
Frontal bossing, Ventricular septal defect, Hypospadias, Cryptorchidism, Patent ductus arteriosus... OMIM:218350
Double Outlet Right Ventricle
Hypoparathyroidism, Failure to thrive, Tachycardia, Ventricular septal defect, Intestinal malrota... ORPHA:3426
Chromosome 3Q13.31 Deletion Syndrome
Cryptorchidism, Brachycephaly, Plagiocephaly, High palate, Attention deficit hyperactivity disord... OMIM:615433
Severe Hemophilia A
Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Prolonged bleeding after surgery, Pr... ORPHA:169802
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Central apnea, Bilateral tonic-clonic seizure, Low anterior hairline, Brachycephaly, Dysmetria, G... OMIM:615031
Microscopic Polyangiitis
Glomerulopathy, Renal insufficiency, Pericarditis, Peritonitis, Oliguria, Hematuria, Pancreatitis ORPHA:727
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Tachypnea, Failure to thrive, Polyphagia, Decreased body weight OMIM:620085
Joubert Syndrome 9
Cataract, Apnea, Episodic tachypnea, Stage 5 chronic kidney disease, Seizure, Astigmatism, Hepati... OMIM:612285
Pierpont Syndrome
Small for gestational age, Cryptorchidism, Abnormal subcutaneous fat tissue distribution, Brachyc... ORPHA:487825
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Anorexia, Renal interstitial edema, Sterile pyuria, Tubulointerstitial nephrit... ORPHA:91500
Desanto-Shinawi Syndrome
Aggressive behavior, Synophrys, Hirsutism, Brachycephaly, Astigmatism, Agitation, Attention defic... OMIM:616708
Long Qt Syndrome 9
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... OMIM:611818
Kleefstra Syndrome Due To A Point Mutation
Natal tooth, Inguinal hernia, Tracheomalacia, Large for gestational age, Precocious puberty, Brac... ORPHA:261652
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Episodic tachypnea, Tachypnea, Ventricular tachycardia, Atrioventricular bl... ORPHA:26793
Methylmalonic Aciduria And Homocystinuria, Cblx Type
Brachycephaly, Methylmalonic aciduria, Choreoathetosis, Athetosis, Failure to thrive, Homocystinuria OMIM:309541
Potocki-Shaffer Syndrome
Turricephaly, Multiple exostoses, Parietal foramina, Brachycephaly, Seizure, Micropenis, Sparse l... OMIM:601224
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Intraventricular hemorrhage, Polyhydramnios OMIM:613603
German Syndrome
Abnormal eyebrow morphology, Camptodactyly of finger, Dolichocephaly, Micrognathia, Cryptorchidis... ORPHA:2077
Cocaine Intoxication
Respiratory distress, Prolonged QRS complex, Myocardial infarction, Intestinal perforation, Tachy... ORPHA:90068
Aminopterin Syndrome Sine Aminopterin
Frontal bossing, Inguinal hernia, Highly arched eyebrow, Micrognathia, Cryptorchidism, Brachyceph... OMIM:600325
Joubert Syndrome With Oculorenal Defect
Renal insufficiency, Ataxia, Apnea, Highly arched eyebrow, Aganglionic megacolon, Tachypnea, Seiz... ORPHA:2318
Cardiomyopathy, Dilated, 1E
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... OMIM:601154
Cataract-Intellectual Disability-Hypogonadism Syndrome
Cataract, Hypogonadotropic hypogonadism, Micrognathia, Cryptorchidism, Brachycephaly, Low posteri... ORPHA:1387
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Hematemesis, Abnor... ORPHA:464321
Cornelia De Lange Syndrome 5
Highly arched eyebrow, Micrognathia, Cryptorchidism, Synophrys, Low anterior hairline, Brachyceph... OMIM:300882
Ritscher-Schinzel Syndrome 1
Hypospadias, Ventricular septal defect, Decreased response to growth hormone stimulation test, Mi... OMIM:220210
Congenital Factor Vii Deficiency
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... ORPHA:327
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Broad-based gait, Hyperactivity, Aggressive behavior, Precocious puberty, Brachycephaly, Cleft pa... OMIM:300958
Acute Lung Injury
Respiratory distress, Shock, Acute pancreatitis, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea,... ORPHA:178320
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Atrial fibrillation, Bradycardia OMIM:614302
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Sparse scalp hair, Inguinal hernia, Abnormality of the kidney, Sagittal craniosynostosis, Trigono... ORPHA:459061
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal salt wasting, I... OMIM:602522
Von Hippel-Lindau Disease
Myocardial infarction, Pancreatic endocrine tumor, Adrenal pheochromocytoma, Hyperhidrosis, Papil... ORPHA:892
Chromosome 3Pter-P25 Deletion Syndrome
Flat occiput, Small for gestational age, Highly arched eyebrow, Micrognathia, Cryptorchidism, Syn... OMIM:613792
Factor X Deficiency
Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,... OMIM:227600
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, First degree atrioventricular block, Right ventricular dilatation, ... ORPHA:99105
Chromosome 5P13 Duplication Syndrome
Frontal bossing, Turricephaly, Small for gestational age, Craniosynostosis, Brachycephaly, Low po... OMIM:613174
Joubert Syndrome
Ataxia, Apnea, Highly arched eyebrow, Episodic tachypnea, Situs inversus totalis, Aganglionic meg... ORPHA:475
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl... ORPHA:1686
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Renal insufficiency, Polyuria, Increased urinary potassium, Renal salt wasting,... OMIM:613090
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Tachycardia, Failure to... ORPHA:264675
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation
Central apnea, Low anterior hairline, Brachycephaly, Dysmetria, Gait ataxia, Seizure ORPHA:320385
Pauci-Immune Glomerulonephritis
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i... ORPHA:93126
Congenital Disorder Of Glycosylation, Type Iiy
Bilateral tonic-clonic seizure, Brachycephaly, Status epilepticus OMIM:620200
Wild Type Attr Amyloidosis
Abnormal EKG, Myocardial infarction, Congestive heart failure, Pedal edema, Hypertrophic cardiomy... ORPHA:330001
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Bradycardia OMIM:616299
Hypocalcemia, Autosomal Dominant 1
Nephrocalcinosis, Hypercalciuria, Nephrolithiasis, Decreased glomerular filtration rate OMIM:601198
Coenzyme Q10 Deficiency, Primary, 5
Left ventricular hypertrophy, Intrauterine growth retardation, Bradycardia OMIM:614654
Hyperparathyroidism, Neonatal Severe
Hepatomegaly, Hyperphosphaturia, Polyuria, Splenomegaly, Dyspnea, Primary hyperparathyroidism, Ta... OMIM:239200
Adenylosuccinate Lyase Deficiency
Seizure, Flat occiput, Brachycephaly ORPHA:46
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Ataxia, Aggressive behavior, Optic atrophy, Seizure, Frontal upsweep of hair, High... OMIM:300983
Idiopathic Congenital Hypothyroidism
Facial edema, Umbilical hernia, Bradycardia ORPHA:95717
Joubert Syndrome 3
Central apnea, Ataxia, Episodic tachypnea, Highly arched eyebrow, Stage 5 chronic kidney disease,... OMIM:608629
Atrial Septal Defect, Ostium Primum Type
First degree atrioventricular block, Tachypnea, Atrioventricular block, Right ventricular dilatat... ORPHA:99106
Cornelia De Lange Syndrome 2
Thick eyebrow, Highly arched eyebrow, Micrognathia, Synophrys, Low anterior hairline, Brachycepha... OMIM:300590
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Anisocytosis, Cardiomegaly, Microvesicular hepatic steatosis, Tachypnea, Hepatocellular necrosis,... OMIM:618278
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities
Bilateral tonic-clonic seizure, Supernumerary nipple, Aggressive behavior, Synophrys, Brachycepha... OMIM:616083
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin... OMIM:140400
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Bradycardia, Intra... OMIM:618775
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Crossed fused renal ectopia, Hypoplastic right heart, Ventricular septal defect, Unilateral renal... OMIM:618142
Clark-Baraitser Syndrome
Hyperactivity, Aggressive behavior, Brachycephaly, Obesity, Seizure, High palate, Dolichocephaly OMIM:617752
Smith-Magenis Syndrome
Mandibular prognathia, Frontal bossing, Failure to thrive in infancy, Delayed eruption of primary... ORPHA:819
Lujan-Fryns Syndrome
Macroorchidism, Camptodactyly of finger, Micrognathia, Hypoplasia of the maxilla, Brachycephaly, ... ORPHA:776
Osteogenesis Imperfecta, Type Xvii
Intraventricular hemorrhage OMIM:616507
Hyperlysinemia, Type I
Hyperactivity, Hyperlysinuria, Anemia, Ectopia lentis OMIM:238700
Acute Interstitial Pneumonia
Crackles, Pericardial effusion, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Lymphade... ORPHA:79126
Even-Plus Syndrome
Atrial septal defect, Recurrent urinary tract infections, Highly arched eyebrow, Synophrys, Renal... OMIM:616854
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Broad jaw, Thickened calvaria, Brachycephaly, Craniosynostosis ORPHA:178377
2Q32Q33 Microdeletion Syndrome
Aggressive behavior, Micrognathia, Brachycephaly, Cleft palate, Fine hair, High palate, Attention... ORPHA:251019
Cebalid Syndrome
Turricephaly, Highly arched eyebrow, Congenital diaphragmatic hernia, Platystencephaly, Brachycep... OMIM:618774
Short Qt Syndrome 2
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... OMIM:609621
Intellectual Developmental Disorder, Autosomal Dominant 23
Hypospadias, Micrognathia, Synophrys, Low anterior hairline, Brachycephaly, Astigmatism, Compulsi... OMIM:615761
Long Qt Syndrome 5
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... OMIM:613695
Fetal And Neonatal Alloimmune Thrombocytopenia
Abnormal bleeding, Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Cephalohematoma, Intracr... ORPHA:853
Developmental And Epileptic Encephalopathy 109
Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Dyspnea, ... OMIM:620145
Hemophilia B
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged bleeding after surgery, Join... ORPHA:98879
Angelman Syndrome
Mandibular prognathia, Hyperactivity, Broad-based gait, Ataxia, Flat occiput, Protruding tongue, ... OMIM:105830
Carpenter Syndrome 1
Micrognathia, Hypoplasia of the maxilla, Brachycephaly, Microcornea, High palate, Atrial septal d... OMIM:201000
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... OMIM:187300
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Shortened PR interval, Cardiomyopathy,... OMIM:261740
Lig4 Syndrome
Pancytopenia, Small for gestational age, Myelodysplasia, Cryptorchidism, Asthma, Low anterior hai... OMIM:606593
Gillessen-Kaesbach-Nishimura Syndrome
Omphalocele, Congenital diaphragmatic hernia, Micrognathia, Frontotemporal hypertrichosis, Wide a... OMIM:263210
19P13.12 Microdeletion Syndrome
Aortic regurgitation, Hepatic steatosis, Hyperactivity, Ventricular septal defect, Hypospadias, C... ORPHA:254346
Kleefstra Syndrome
Mandibular prognathia, Hypoplasia of penis, Bicuspid aortic valve, Synophrys, Brachycephaly, Rena... ORPHA:261494
Cleidocranial Dysplasia, Recessive Form
Brachycephaly OMIM:216330
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Mandibular prognathia, Hyperactivity, Generalized-onset seizure, Bilateral tonic-clonic seizure, ... OMIM:604317
Combined Deficiency Of Factor V And Factor Viii
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... ORPHA:35909
Vulto-Van Silfhout-De Vries Syndrome
Mandibular prognathia, Frontal bossing, Aggressive behavior, Widow's peak, Brachycephaly, Fine ha... OMIM:615828
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... OMIM:601494
Intellectual Developmental Disorder, Autosomal Recessive 41
Mandibular prognathia, Hepatomegaly, Frontal bossing, Generalized-onset seizure, Bilateral tonic-... OMIM:615637
Congenital Alpha2-Antiplasmin Deficiency
Abnormal bleeding, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Gingival bleeding,... ORPHA:79
48,Xxxy Syndrome
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of penis, Inguinal hernia, Abnormal ... ORPHA:96263
Lig4 Syndrome
Hepatomegaly, Hypoplasia of penis, Pancytopenia, Telangiectasia of the skin, Micrognathia, Malabs... ORPHA:99812
Extracranial Carotid Artery Aneurysm
Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Hypertension, Cerebral ischemia, Arteritis... ORPHA:494424
Long Qt Syndrome 8
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... OMIM:618447
Congenital Factor X Deficiency
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... ORPHA:328
Warburg Micro Syndrome 3
Cataract, Bilateral tonic-clonic seizure, Micrognathia, Inability to walk, Flexion contracture, L... OMIM:614222
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Flat occiput, Ventricular septal defect, Highly arched eyebrow, Cryptorchidism, Inability to walk... OMIM:617452
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Gastrointestinal hemorrhage, Epidural hemorrhage, Prolonged bleeding after dental extraction, Epi... ORPHA:465
Infection-Related Hemolytic Uremic Syndrome
Hemolytic anemia, Brain abscess, Anuria, Acute colitis, Intestinal perforation, Myocarditis, Panc... ORPHA:544482
Crouzon Syndrome
Frontal bossing, Turricephaly, Hypoplasia of the maxilla, Optic atrophy, Brachycephaly, Hypopigme... ORPHA:207
Coffin-Siris Syndrome 8
Sparse scalp hair, Hyperactivity, Inguinal hernia, Aggressive behavior, Cryptorchidism, Self-inju... OMIM:618362
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Dicarboxylic aciduria, Oliguria, Cardiomyopathy ORPHA:159
Congenital Heart Defects And Ectodermal Dysplasia
Medial flaring of the eyebrow, Sparse scalp hair, Frontal bossing, High anterior hairline, Brachy... OMIM:617364
Joubert Syndrome 1
Central apnea, Optic disc pallor, Hyperactivity, Hemifacial spasm, Ataxia, Episodic tachypnea, Hi... OMIM:213300
7Q11.23 Microduplication Syndrome
Congenital diaphragmatic hernia, Micrognathia, Brachycephaly, Dysmetria, Abnormal optic disc morp... ORPHA:96121
Infantile Sialic Acid Storage Disease
Hepatomegaly, Failure to thrive, Cardiomegaly, Splenomegaly, Congestive heart failure, Vacuolated... OMIM:269920
Gorlin Syndrome
Mandibular prognathia, Frontal bossing, Cataract, Hypogonadotropic hypogonadism, Carious teeth, C... ORPHA:377
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Micrognathia, Cryptorchidism, Unilambdoid synostosis, Brachycephaly, Plagiocephaly, Seizure, Long... OMIM:618577
Citrullinemia Type I
Seizure, Failure to thrive, Ataxia, Tachypnea ORPHA:247525
Non-Syndromic Bicoronal Craniosynostosis
Brachycephaly, Midface retrusion ORPHA:35099
Kleefstra Syndrome Due To 9Q34 Microdeletion
Hypoplasia of penis, Flat occiput, Synophrys, Brachycephaly, Conotruncal defect, Vesicoureteral r... ORPHA:96147
Kleefstra Syndrome 1
Mandibular prognathia, Natal tooth, Hypospadias, Aggressive behavior, Persistence of primary teet... OMIM:610253
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Flat occiput, Ventricular septal defect, Ataxia, Highly arched eyebrow, Limb joint contracture, C... ORPHA:505237
Cardiomyopathy, Familial Hypertrophic, 4
First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo... OMIM:115197
Biotinidase Deficiency
Hepatomegaly, Alopecia, Ataxia, Apnea, Splenomegaly, Tachypnea, Optic atrophy, Seizure, Organic a... OMIM:253260
Chromosome 13Q33-Q34 Deletion Syndrome
Micrognathia, Brachycephaly, Anteriorly placed anus, High palate, Advanced eruption of teeth, Hyp... OMIM:619148
Ethylene Glycol Poisoning
Tachypnea, Ataxia, Facial palsy, Episodic respiratory distress, Renal tubular dysfunction, Seizur... ORPHA:31826
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Generalized-onset seizure, Bicuspid aortic valve, Micrognathia, Microvesicular hepatic steatosis,... OMIM:220111
White-Sutton Syndrome
Mandibular prognathia, Congenital diaphragmatic hernia, Micrognathia, Brachycephaly, Tics, High p... OMIM:616364
Tetanus
Respiratory distress, Tachycardia, Elevated urinary norepinephrine level, Trismus, Tachypnea, Ele... ORPHA:3299
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Hyperactivity, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Syno... OMIM:252920
Glycogen Storage Disease Ia
Hepatomegaly, Proteinuria, Hepatocellular carcinoma, Nephrolithiasis, Focal segmental glomerulosc... OMIM:232200
Pseudo-Torch Syndrome 3
Hypertension, Cerebral hemorrhage, Cardiomegaly OMIM:618886
Incessant Infant Ventricular Tachycardia
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... ORPHA:45453
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... OMIM:604772
Autism Spectrum Disorder Due To Auts2 Deficiency
Hyperactivity, Inguinal hernia, Small for gestational age, Highly arched eyebrow, Micrognathia, C... ORPHA:352490
Den Hoed-De Boer-Voisin Syndrome
Brachycephaly, Decreased body weight, Abnormal repetitive mannerisms, Amelogenesis imperfecta, At... OMIM:619229
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Respiratory failure requiring assisted ventilation, Tricuspid regurgitation, Small ... ORPHA:555874
Primary Angiitis Of The Central Nervous System
Intracranial hemorrhage, Stroke, Transient ischemic attack, Cerebral vasculitis ORPHA:140989
Chronic Pneumonitis Of Infancy
Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Mediastinal lymphad... ORPHA:91359
Joubert Syndrome 30
Seizure, Tachypnea, Apnea OMIM:617622
Cardiac Arrhythmia, Ankyrin-B-Related
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope OMIM:600919
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Bilateral tonic-clonic seizure, Impulsivity, Abnormal eating behavior, Aggressive ... ORPHA:101039
Romano-Ward Syndrome
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ... ORPHA:101016
X-Linked Intellectual Disability Due To Gria3 Mutations
Mandibular prognathia, Bilateral tonic-clonic seizure, Aggressive behavior, Cryptorchidism, Self-... ORPHA:364028
Mulibrey Nanism
Hepatomegaly, Frontal bossing, Corneal dystrophy, Cardiomegaly, Congestive heart failure, Dental ... OMIM:253250
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia, P... ORPHA:542306
Congenital Disorder Of Glycosylation, Type Il
Hepatomegaly, Frontal bossing, Pericardial effusion, Brachycephaly, Hepatosplenomegaly, Abnormal ... OMIM:608776
Distal Deletion 12Q
Ectopic kidney, Micrognathia, High, narrow palate, Biliary atresia, Brachycephaly, Vesicoureteral... ORPHA:96149
Sick Sinus Syndrome 4
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... OMIM:619464
Brugada Syndrome
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... ORPHA:130
Ethanolaminosis
Cardiomegaly OMIM:227150
Hallermann-Streiff Syndrome
Micrognathia, High, narrow palate, Brachycephaly, Choreoathetosis, High palate, Sparse hair, Pari... OMIM:234100
Intellectual Developmental Disorder, X-Linked, Syndromic 12
Mandibular prognathia, Seizure, Brachycephaly OMIM:309545
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Left-to-right shunt, Ventricular septal defect, Congestive heart failure, Patent ductus arteriosu... ORPHA:99050
Serotonin Syndrome
Restlessness, Tachycardia, Tachypnea, Hyperhidrosis, Seizure, Hypertension, Agitation, Myoclonus,... ORPHA:43116
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular hypertrophy, Cardiac arrest, Ventricular tachycardia, Atrioventricular block, Prematu... OMIM:212138
Muenke Syndrome
Low anterior hairline, Brachycephaly, Dental malocclusion, Plagiocephaly, High palate, Attention ... OMIM:602849
Insulinomatosis And Diabetes Mellitus
Developmental glaucoma, Insulinoma, Multiple pancreatic beta-cell adenomas, Developmental catarac... OMIM:147630
Riddle Syndrome
Conjunctival telangiectasia, Intraventricular hemorrhage, Telangiectasia ORPHA:420741
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Hypospadias, Ataxia, Tonic seizure, Cryptorchidism, Repetitive compulsive behavior, Inability to ... OMIM:300260
Cardiomyopathy, Dilated, 2H
Secundum atrial septal defect, Muscular ventricular septal defect, Tachypnea, Cardiorespiratory a... OMIM:620203
Paraganglioma And Gastric Stromal Sarcoma
Paraganglioma OMIM:606864
Cronkhite-Canada Syndrome
Anorexia, Hamartomatous polyposis, Abnormality of skin pigmentation, Neoplasm, Stomach cancer, Dy... ORPHA:2930
Infant Acute Respiratory Distress Syndrome
Tachycardia, Cardiac arrest, Bradycardia, Hypotension, Pulmonary edema ORPHA:70587
Colchicine Poisoning
Alopecia, Renal insufficiency, Myocarditis, Leukocytosis, Oliguria ORPHA:31824
Chopra-Amiel-Gordon Syndrome
Unilateral renal agenesis, Brachycephaly, Cleft palate, Attention deficit hyperactivity disorder,... OMIM:619504
Chromosome 6Pter-P24 Deletion Syndrome
Frontal bossing, Posterior embryotoxon, Ventricular septal defect, Patent ductus arteriosus, Brac... OMIM:612582
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Synophrys, Brachycephaly, Obesity, Congenital hypothyroidism, Seizure, Horizontal eyebrow, Genera... ORPHA:352530
Fetal Trimethadione Syndrome
Ventricular septal defect, Hypospadias, Micrognathia, Synophrys, Brachycephaly, High palate, Tran... ORPHA:1913
Acquired Purpura Fulminans
Shock, Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Internal hemorrhage ORPHA:49566
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Frontal bossing, Cataract, Micrognathia, Wide anterior fontanel, Brachycephaly, Cleft palate, Oli... ORPHA:163649
Koolen-De Vries Syndrome Due To A Point Mutation
Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Intraventricular hemorrhage, Abno... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Intraventricular hemorrhage, Abno... ORPHA:363958
Developmental And Epileptic Encephalopathy 66
Clonic seizure, Synophrys, Myoclonic seizure, Neutropenia, Atrial septal defect, Abnormal repetit... OMIM:618067
Clcn4-Related X-Linked Intellectual Disability Syndrome
Hyperactivity, Inguinal hernia, Bilateral tonic-clonic seizure, Infantile spasms, Aggressive beha... ORPHA:485350
Pyruvate Carboxylase Deficiency
Hepatomegaly, Ataxia, Anorexia, Infantile spasms, Generalized clonic seizure, Cerebellar gliosis,... ORPHA:3008
49,Xxxxy Syndrome
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of penis, Abnormal dental enamel mor... ORPHA:96264
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Spinal a... OMIM:600376
Kury-Isidor Syndrome
Frontal bossing, Alopecia, Ventricular septal defect, Brachycephaly, Astigmatism, High palate, At... OMIM:619762
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Micrognathia, Cryptorchidism, Optic atrophy, Brachycephaly, Seizure, Joint contracture OMIM:615419
Abeta Amyloidosis, Dutch Type
Stroke, Cerebral hemorrhage ORPHA:100006
Bacterial Toxic-Shock Syndrome
Respiratory distress, Shock, Renal insufficiency, Sinusitis, Fasciitis, Glomerulonephritis, Absce... ORPHA:36234
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Stage 5 chronic kidney disease,... OMIM:612925
Craniofrontonasal Dysplasia
Frontal bossing, Hypospadias, Camptodactyly of finger, Craniosynostosis, Abnormality of hair text... ORPHA:1520
Acquired Von Willebrand Syndrome
Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxis, Gastrointestinal angiodysplasia, In... ORPHA:99147
Glycogen Storage Disease Ic
Hepatomegaly, Renal insufficiency, Proteinuria, Cyclic neutropenia, Chronic pancreatitis, Hematur... OMIM:232240
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... OMIM:612240
3P25.3 Microdeletion Syndrome
Mandibular prognathia, Ventricular septal defect, Ataxia, Bilateral tonic-clonic seizure, Microgn... ORPHA:435638
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Peripheral axonal neuropathy, Hypoplasia of the maxilla, Inability to walk, Flexion contracture, ... OMIM:218000
Distal Deletion 10Q
Micrognathia, Functional abnormality of the bladder, Brachycephaly, High palate, Atrial septal de... ORPHA:96148
Camptodactyly Syndrome, Guadalajara Type 1
Mandibular prognathia, Camptodactyly of finger, Highly arched eyebrow, Synophrys, Abnormality of ... ORPHA:1327
Pheochromocytoma/Paraganglioma Syndrome 5
Paraganglioma OMIM:614165
Aorta Coarctation
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Congestive heart failure, Pa... ORPHA:1457
Bardet-Biedl Syndrome 8
Hypospadias, Situs inversus totalis, Brachycephaly, Obesity, Renal dysplasia OMIM:615985
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Ventricular septal defect, Intestinal malrotation, Highly arched eyebrow, Micrognathia, Cryptorch... ORPHA:404440
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Frontal bossing, Renal insufficiency, Hypospadias, Apnea, Supernumerary nipple, Micrognathia, Tac... ORPHA:397715
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Frontal bossing, Failure to thrive in infancy, Cardiomegaly, Wide anterior fontanel... OMIM:619064
Brachytelephalangic Chondrodysplasia Punctata
Central apnea, Respiratory failure requiring assisted ventilation, Neonatal respiratory distress,... ORPHA:79345
Morm Syndrome
Hyperactivity, Cataract, Abnormality of the kidney, Aggressive behavior, Truncal obesity, Micropenis ORPHA:75858
Congenital Disorder Of Glycosylation, Type Iq
Cataract, Microcytic anemia, Optic atrophy, Brachycephaly, Abnormality of skin pigmentation, Dysp... OMIM:612379
Ritscher-Schinzel Syndrome 4
Curly hair, Ataxia, Bilateral tonic-clonic seizure, Impulsivity, Aggressive behavior, Cryptorchid... OMIM:619435
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Frontal bossing, Hyperactivity, Ataxia, Aggressive behavior, Obesity, Brachycephaly, Plagiocephal... OMIM:618430
Intellectual Developmental Disorder, Autosomal Dominant 67
Hyperactivity, Posterior plagiocephaly, Astigmatism, Compulsive behaviors, Attention deficit hype... OMIM:619927
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Atrial septal defect, Small for gestational age, Episodic tachypnea OMIM:615160
Pontocerebellar Hypoplasia, Type 3
Optic disc pallor, High, narrow palate, Optic atrophy, Brachycephaly, Seizure, High palate, Decre... OMIM:608027
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Impulsivity, Aggressive behavior, Overweight, Cryptorchidism, Asthma, Flexion contracture, Brachy... ORPHA:500055
Cln3 Disease
Left ventricular hypertrophy, T-wave inversion, Bradycardia ORPHA:228346
Warburg Micro Syndrome 4
Cryptorchidism, Inability to walk, Flexion contracture, Low anterior hairline, Brachycephaly, Opt... OMIM:615663
Alagille Syndrome
Keratoconus, Hepatomegaly, Frontal bossing, Ventricular septal defect, Corneal dystrophy, Renal h... ORPHA:52
Mosaic Variegated Aneuploidy Syndrome 1
Multicystic kidney dysplasia, Cataract, Small for gestational age, Hypospadias, Nephroblastoma, M... OMIM:257300
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Mandibular prognathia, Frontal bossing, Bicuspid aortic valve, Brachycephaly, Plagiocephaly, Hypo... OMIM:619721
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Waddling gait, Left atrial enlargement, Cardiomegaly, Synophrys, Retrogn... OMIM:300280
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, Bradycardia, Stroke-like episode OMIM:619272
Joubert Syndrome 2
Central apnea, Frontal bossing, Renal insufficiency, Ataxia, Episodic tachypnea, Optic disc colob... OMIM:608091
Thymic Neuroendocrine Tumor
Calcium nephrolithiasis, Pituitary null cell adenoma, Pancreatic islet cell adenoma, Chronic noni... ORPHA:97289
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities
Inguinal hernia, Brachycephaly, Cleft palate, Plagiocephaly, Seizure, High palate, Failure to thrive OMIM:618603
Phosphoribosylpyrophosphate Synthetase Superactivity
Hypertension, Arrhythmia, Abnormal aortic morphology, Cardiomyopathy ORPHA:3222
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Bradycardia, Atrioventricular block OMIM:614407
Vascular Hyalinosis
Hematochezia, Vascular dilatation, Subarachnoid hemorrhage OMIM:277175
Peroxisome Biogenesis Disorder 1A (Zellweger)
Flat occiput, Adrenal hypoplasia, Micrognathia, High, narrow palate, Aminoaciduria, High palate, ... OMIM:214100
Common Variable Immunodeficiency
Hemolytic anemia, Failure to thrive in infancy, Pneumonia, Autoimmune thrombocytopenia, Gastroint... ORPHA:1572
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Hematuria, Microangiopathic hem... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Hematuria, Microangiopathic hem... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Hematuria, Microangiopathic hem... OMIM:612926
Fucosidosis
Hepatomegaly, Corneal opacity, Lipoatrophy, Cardiomegaly, Abnormality of the gallbladder, Brachyc... ORPHA:349
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Hepatomegaly, Diabetes mellitus, Ataxia, Facial palsy, Foot joint contracture, Achilles tendon co... ORPHA:456312
Aapoaiv Amyloidosis
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab... ORPHA:439232
Intellectual Developmental Disorder, Autosomal Dominant 1
Mandibular prognathia, Micrognathia, Brachycephaly, Micropenis, Ataxia, Highly arched eyebrow, As... OMIM:156200
Cutis Laxa, Autosomal Recessive, Type Iiia
Frontal bossing, Inguinal hernia, Cataract, Cryptorchidism, Brachycephaly, Athetosis, Seizure, Co... OMIM:219150
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... OMIM:614021
Landau-Kleffner Syndrome
Hyperactivity, Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seiz... ORPHA:98818
Sick Sinus Syndrome 1
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... OMIM:608567
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Ventricular septal defect, Micrognathia, Precocious puberty, Cryptorchidism, Brachycephaly, Seizu... OMIM:620073
Joubert Syndrome 23
Tachypnea, Apnea OMIM:616490
Scimitar Syndrome
Heart block, Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Patent ductus a... ORPHA:185
Mogs-Cdg
Respiratory distress, Apnea, Cardiomegaly, High palate, Atrial septal defect, Decreased circulati... ORPHA:79330
Hellp Syndrome
Pulmonary edema, Cerebral hemorrhage, Prolonged prothrombin time, Hypotension, Pleural effusion, ... ORPHA:244242
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Hematuria, Microangiopathic hem... OMIM:612924
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... OMIM:618223
Peripartum Cardiomyopathy
Ventricular tachycardia, Pedal edema, Left bundle branch block, Right ventricular dilatation, Abn... ORPHA:563
Neuraminidase Deficiency
Hepatomegaly, Inguinal hernia, Urinary excretion of sialylated oligosaccharides, Proteinuria, Cat... OMIM:256550
Hyperphosphatasia-Intellectual Disability Syndrome
Mandibular prognathia, Ataxia, Bilateral tonic-clonic seizure, Supernumerary nipple, Highly arche... ORPHA:247262
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Postnatal growth retardation, Large placenta, Umbilical hernia, Polyhydramnios ORPHA:254534
Acys Amyloidosis
Stroke, Cerebral hemorrhage ORPHA:100008
Craniosynostosis, Herrmann-Opitz Type
Turricephaly, Craniosynostosis, Abnormality of the upper urinary tract, Abnormality of the urethr... ORPHA:2145
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta OMIM:241550
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Curly hair, Hyperactivity, Frontal bossing, Hypospadias, Generalized-onset seizure, Lactose intol... ORPHA:457485
Nabais Sa-De Vries Syndrome, Type 1
Highly arched eyebrow, Synophrys, Low anterior hairline, Brachycephaly, Self-injurious behavior, ... OMIM:618828
Car T Cell Therapy-Associated Cytokine Release Syndrome
Tachycardia, Heart block, Tachypnea, Capillary leak, Hypoxemia, Respiratory failure, Reduced left... ORPHA:542323
Acitretin/Etretinate Embryopathy
Third degree atrioventricular block, Atrioventricular canal defect, Bradycardia, Conotruncal defect ORPHA:40366
Scorpion Envenomation
Bundle branch block, Tachypnea, Hyperhidrosis, Prominent U wave, Hemifacial spasm, Ketonuria, Ata... ORPHA:466677
Crouzon Syndrome
Mandibular prognathia, Frontal bossing, Sagittal craniosynostosis, Hypoplasia of the maxilla, Ker... OMIM:123500
Atelis Syndrome 1
Cataract, Ventricular septal defect, Decreased lymphocyte proliferation in response to anti-CD3, ... OMIM:620184
Glutamine Deficiency, Congenital
Neonatal death, Bradycardia OMIM:610015
Beck-Fahrner Syndrome
Ventricular septal defect, Cardiomegaly, Brachycephaly, Seizure, High palate, Impaired social int... OMIM:618798
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Ureteral stenosis, Hydroureter, Ataxia, Bilateral tonic-clonic seizure, Large for gestational age... OMIM:615398
Adnp Syndrome
Respiratory distress, Urinary incontinence, Oral-pharyngeal dysphagia, Brachycephaly, Compulsive ... ORPHA:404448
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea OMIM:267450
Developmental And Epileptic Encephalopathy 101
Third degree atrioventricular block, Bradycardia OMIM:619814
Trisomy 20P
Micrognathia, Low anterior hairline, Brachycephaly, Coarse hair, Hernia, Hypospadias, Abnormality... ORPHA:261318
Aortic Aneurysm, Familial Thoracic 9
Atrial fibrillation, Thoracic aortic aneurysm, Mitral valve prolapse, Ascending aortic dissection... OMIM:616166
Intellectual Developmental Disorder, Autosomal Recessive 38
Mandibular prognathia, Hyperactivity, Aggressive behavior, Unsteady gait, Blue irides, Narrow pal... OMIM:615516
Congenital Heart Defects, Multiple Types, 2
Aortic regurgitation, Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Cong... OMIM:614980
Pseudodiastrophic Dysplasia
Frontal bossing, Micrognathia, Brachycephaly, Camptodactyly, Failure to thrive, Midface retrusion OMIM:264180
Arima Syndrome
Tachypnea, Hepatic fibrosis, Nephronophthisis, Hepatic steatosis, Tubulointerstitial fibrosis, He... OMIM:243910
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Cardiomyopathy, Arrhythmia, Bradycardia OMIM:609286
White-Sutton Syndrome
Ventral hernia, Hyperactivity, Inguinal hernia, Congenital diaphragmatic hernia, Aggressive behav... ORPHA:468678
Cardiomyopathy, Familial Hypertrophic, 11
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... OMIM:612098
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Frontal bossing, Hip contracture, Failure to thrive in infancy, Cachexia, Inability to walk, Brac... OMIM:616801
Double Outlet Left Ventricle
Double outlet left ventricle, Failure to thrive, Ventricular septal defect, Cardiomegaly, Cryptor... ORPHA:3427
Familial Colorectal Cancer Type X
Flexion contracture, Neoplasm of the breast, Stomach cancer, Renal neoplasm, Pancreatic adenocarc... ORPHA:440437
Phenylketonuria
Hyperactivity, Cataract, Increased level of hippuric acid in urine, Elevated urinary phenylpyruvi... OMIM:261600
Familial Thyroid Dyshormonogenesis
Facial edema, Umbilical hernia, Bradycardia ORPHA:95716
Congenital Heart Defects, Multiple Types, 6
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... OMIM:613854
Potocki-Lupski Syndrome
Mandibular prognathia, Hyperactivity, Small for gestational age, Trigonocephaly, Oral-pharyngeal ... OMIM:610883
Pulmonary Alveolar Microlithiasis
Hepatomegaly, Mitral valve calcification, Calcium nephrolithiasis, Right ventricular failure, Inc... ORPHA:60025
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Mandibular prognathia, Hypopigmentation of the skin, Hyperactivity, Hypopigmentation of hair, Ata... ORPHA:411515
Tricuspid Atresia
Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persistent left s... ORPHA:1209
Glossopharyngeal Neuralgia
Syncope, Jaw claudication, Bradycardia, Vascular dilatation ORPHA:221098
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... ORPHA:300751
Congenital Toxoplasmosis
Hepatomegaly, Abnormality of retinal pigmentation, Failure to thrive in infancy, Cardiomegaly, Th... ORPHA:858
D-Glyceric Aciduria
Patent ductus arteriosus, Bradycardia OMIM:220120
Congenital Disorder Of Glycosylation, Type Iia
Mandibular prognathia, Thick eyebrow, Ventricular septal defect, Aggressive behavior, Protruding ... OMIM:212066
Fetal Gaucher Disease
Intracranial hemorrhage, Stillbirth, Hydrops fetalis, Neonatal death ORPHA:85212
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Small for gestational age, Ventricular septal defect, Hypospadias, Cardiomegaly, Micrognathia, Fl... OMIM:616897
Peroxisome Biogenesis Disorder 2A (Zellweger)
Apnea, Micrognathia, Aminoaciduria, Hypoplasia of the thymus, Intrahepatic biliary dysgenesis, He... OMIM:214110
Aortic Arch Interruption
Respiratory distress, Bicuspid aortic valve, Tachypnea, Aortic valve atresia, Aortopulmonary wind... ORPHA:2299
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Failure to thrive, Redu... OMIM:300400
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Frontal bossing, Ataxia, Cryptorchidism, Brachycephaly, Plagiocephaly, Macroglossia, Transpositio... OMIM:616789
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities
Infantile spasms, Micrognathia, Focal-onset seizure, Flexion contracture, Brachycephaly, Failure ... OMIM:620240
2P15P16.1 Microdeletion Syndrome
Brachycephaly, High palate, Multicystic kidney dysplasia, Facial palsy, Sparse eyebrow, Gait dist... ORPHA:261349
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies
Mandibular prognathia, Brachycephaly, Low posterior hairline, Prominent occiput, Plagiocephaly, D... OMIM:618672
Contractural Arachnodactyly, Congenital
Frontal bossing, Hip contracture, Ventricular septal defect, Bicuspid aortic valve, Micrognathia,... OMIM:121050
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Hepatomegaly, Tachycardia, Increased urinary glycerol, Intermittent hyperve... ORPHA:348
Multisystemic Smooth Muscle Dysfunction Syndrome
Intestinal malrotation, Hypoperistalsis, Cryptorchidism, Patent ductus arteriosus, Tachypnea, Hyp... OMIM:613834
Treacher-Collins Syndrome
Hypoplasia of penis, Micrognathia, Hypoplasia of the maxilla, Low anterior hairline, Brachycephal... ORPHA:861
Cerebellar Ataxia-Hypogonadism Syndrome
Ataxia, Hypogonadotropic hypogonadism, Supernumerary nipple, Brachycephaly, Hypogonadism, Abnorma... ORPHA:1173
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force... OMIM:610913
Focal Facial Dermal Dysplasia Type Iv
Intracranial hemorrhage ORPHA:398189
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:604400
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Absent eyebrow, Flat occiput, Micrognathia, Dyspnea, High, narrow palate, O... ORPHA:2707
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Umbilical hernia, Bradycardia ORPHA:226313
Senior-Loken Syndrome 4
Polyuria, Stage 5 chronic kidney disease, Nephronophthisis, Polydipsia, Anemia OMIM:606996
Sweeney-Cox Syndrome
Flat occiput, Micrognathia, Bilateral cryptorchidism, Wide anterior fontanel, Widow's peak, Paten... OMIM:617746
Craniodigital-Intellectual Disability Syndrome
Thick hair, Abnormal hair pattern, Micrognathia, Brachycephaly, Long eyelashes, Generalized hirsu... ORPHA:1514
Down Syndrome
Anal atresia, Cataract, Aganglionic megacolon, Renal hypoplasia/aplasia, Protruding tongue, Obesi... ORPHA:870
Lissencephaly Syndrome, Norman-Roberts Type
Intrauterine growth retardation, Hypoplastic spleen, Agenesis of corpus callosum ORPHA:89844
Absence Of The Pulmonary Artery
Abnormal coronary artery morphology, Cardiomegaly, Pedal edema, Atrial septal defect, Patent fora... ORPHA:980
Alkaptonuria
Mitral valve calcification, Aortic valve calcification, Elevated urinary homogentisic acid, Nephr... OMIM:203500
Congenital Heart Defects, Multiple Types, 9
Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricl... OMIM:620294
1P36 Deletion Syndrome
Hypoplasia of penis, Abnormality of the spleen, Brachycephaly, Renal cyst, Abnormality of the liv... ORPHA:1606
Lynch Syndrome
Flexion contracture, Intestinal polyposis, Pancreatic adenocarcinoma, Neoplasm of the rectum, Sei... ORPHA:144
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Micrognathia, High, narrow palate, Brachycephaly, Renal cyst, Nephrocalcinosis, Atrial septal def... ORPHA:369837
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Polyhydramnios, Edema, Cardiomegaly, Abnormal cerebral vascular morphology... ORPHA:363705
Acrodysostosis 2 With Or Without Hormone Resistance
Mandibular prognathia, Hyperactivity, Diabetes mellitus, Hypospadias, Cryptorchidism, Blue irides... OMIM:614613
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Bradycardia OMIM:614498
Holocarboxylase Synthetase Deficiency
Alopecia, Tachypnea, Seizure, Organic aciduria, Elevated urinary 3-methylcrotonylglycine level, 3... OMIM:253270
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Frontal bossing, Inguinal hernia, Brachycephaly, Mitral valve prolapse, Atrophic scars, Mitral re... OMIM:615539
Noonan Syndrome With Multiple Lentigines
Abnormal endocardium morphology, Bundle branch block, Hypospadias, Abnormal pulmonary valve morph... ORPHA:500
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Mandibular prognathia, Micrognathia, Synophrys, Low anterior hairline, Brachycephaly, Myoclonic s... OMIM:619512
Carcinoid Syndrome
Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Right ventricular failure, Asthma... ORPHA:100093
Holt-Oram Syndrome
Paroxysmal atrial fibrillation, Ventricular septal defect, First degree atrioventricular block, P... ORPHA:392
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Patent ductus arteriosus, Abnormal cardiac septum morphology, Coarctation of aorta OMIM:601612
Familial Hyperaldosteronism Type I
Intracranial hemorrhage, Hypertension, Epistaxis ORPHA:403
Pde4D Haploinsufficiency Syndrome
Mandibular prognathia, Frontal bossing, Hypospadias, Abnormal dental enamel morphology, Micrognat... ORPHA:439822
Cornelia De Lange Syndrome 1
Congenital diaphragmatic hernia, Ectopic kidney, Micrognathia, High, narrow palate, Synophrys, Br... OMIM:122470
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Reticulocytosis, Anuria, Acute colitis, Intestinal perforation, Leukocytosis, Schistocytosis, Rec... ORPHA:90038
Acrodysostosis 1 With Or Without Hormone Resistance
Mandibular prognathia, Delayed eruption of teeth, Small for gestational age, Unilateral renal age... OMIM:101800
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... OMIM:613426
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Bilateral tonic-clonic seizure, Decreased response to growth hormone stimulation test, Myocardial... ORPHA:457240
Martsolf Syndrome 1
Inguinal hernia, Cataract, Hypogonadotropic hypogonadism, Cardiac arrest, Micrognathia, Hypoplasi... OMIM:212720
Beckwith-Wiedemann Syndrome
Mandibular prognathia, Ureteral duplication, Congenital diaphragmatic hernia, Cardiomegaly, Large... ORPHA:116
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hepatic steatosis, Pancytopenia, Inguinal hernia, Small for gestational age, Intestinal malrotati... OMIM:613658
Wieacker-Wolff Syndrome, Female-Restricted
Microretrognathia, Hip contracture, Urinary incontinence, Inability to walk, Achilles tendon cont... OMIM:301041
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Subdural hemorrhage, Chylothorax, Cerebral hemorrhage OMIM:620278
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Generalized-onset seizure, Bilateral tonic-clonic seizure, Aggressive... OMIM:619827
Angelman Syndrome
Mandibular prognathia, Flat occiput, Hypopigmentation of the skin, Iris hypopigmentation, Keratoc... ORPHA:72
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures
Unilateral cryptorchidism, Brachycephaly, Plagiocephaly, Seizure, High palate, High anterior hair... OMIM:618862
Orofaciodigital Syndrome Type 2
Natal tooth, Bilateral tonic-clonic seizure, Thick hair, Hamartoma of tongue, Micrognathia, Apnea... ORPHA:2751
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Epistaxis, Intracranial hemorrhage, Hypertension, Left ventricular hypertr... ORPHA:251274
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Hepatomegaly, Hyperactivity, Ataxia, Reduced intraabdominal ... ORPHA:363400
Intellectual Developmental Disorder, Autosomal Dominant 29
Frontal bossing, Hyperactivity, Generalized-onset seizure, Aggressive behavior, Cryptorchidism, S... OMIM:616078
8p23.1 deletion syndrome
Hyperactivity, Congenital diaphragmatic hernia, Cryptorchidism, Abnormal heart morphology, Atrial... DECIPHER:39
Li-Fraumeni Syndrome
Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer... ORPHA:524
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypospadias, Small for gestational age, Cardiomegaly, Cryptorchidism, Perimembranous ventricular ... OMIM:620135
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Respiratory distress, Cataract, Abnormality of thyroid physiology, Patent ductus arteriosus, Brac... OMIM:300968
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Flat occiput, Cataract, Protruding tongue, Low anterior hairline, Brachycephaly, Horizontal eyebr... OMIM:618797
Histiocytosis-Lymphadenopathy Plus Syndrome
Decreased response to growth hormone stimulation test, Cardiomegaly, Corneal arcus, Hypertrichoti... OMIM:602782
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Large for gestational age, Brachycephaly, Gait ataxia, Myoclonic seizure, Sparse hair, Hepatomega... OMIM:280000
Tatton-Brown-Rahman Syndrome
Mandibular prognathia, Tricuspid regurgitation, Supraventricular tachycardia with an accessory co... ORPHA:404443
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
Frontal bossing, Craniosynostosis, Bilateral cryptorchidism, Pyloric stenosis, Brachycephaly, Hig... ORPHA:314575
Full Schwannomatosis
Cataract, Neoplasm of the anterior pituitary, Bilateral vestibular schwannoma, Schwannoma, Periph... ORPHA:93921
Necrotizing Enterocolitis
Shock, Edema, Abnormal heart morphology, Bradycardia, Hypotension, Ascites ORPHA:391673
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Cardiomegaly, Dilated cardiomyopathy, Arrhythmia, Antenatal intracerebral hemorrhage, Oligohydram... OMIM:608836
Oculodentodigital Dysplasia, Autosomal Recessive
Delayed eruption of teeth, Frontal bossing, Cataract, Sparse eyelashes, Micrognathia, Hypoplasia ... OMIM:257850
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Craniosynostosis, Cardiomegaly, Obesity, Congenital hypothyroidism, Colitis ORPHA:88643
Mucopolysaccharidosis Type 3
Cardiomegaly, Synophrys, Flexion contracture, Atrioventricular block, Coarse hair, Aspiration pne... ORPHA:581
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Bicuspid aortic valve, Micrognathia, Synophrys, Low anterior hairline, Brachycephaly, High palate... OMIM:610759
Coarctation Of Aorta
Hypoplastic left heart, Coarctation of aorta OMIM:120000
Adenylosuccinase Deficiency
Hyperactivity, Aggressive behavior, Inability to walk, Brachycephaly, Gait ataxia, Seizure, Inapp... OMIM:103050
Isovaleric Acidemia
Cerebellar hemorrhage, Dehydration OMIM:243500
Intellectual Developmental Disorder, Autosomal Dominant 66
Infantile spasms, Secundum atrial septal defect, Brachycephaly, Plagiocephaly, Seizure, Transposi... OMIM:619910
Aortic Aneurysm, Familial Thoracic 6
Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis... OMIM:611788
Trichohepatoneurodevelopmental Syndrome
Synophrys, Brachycephaly, Coarse hair, High palate, Thoracic hypertrichosis, Hypothyroidism, Hepa... OMIM:618268
Autoinflammatory Disease, Systemic, X-Linked
Cerebral hemorrhage OMIM:301081
Craniosynostosis 6
Turricephaly, Craniosynostosis, Parietal foramina, Low anterior hairline, Brachycephaly, Plagioce... OMIM:616602
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Decreased response to growth hormone stimulation test, Large for gestational age, Micrognathia, H... OMIM:213980
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Abnormal left ventricular function, Ecchymosis, Internal hemorrhage, Pericar... ORPHA:99827
Familial Hyperaldosteronism Type Ii
Intracranial hemorrhage, Hypertension, Epistaxis ORPHA:404
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Intracranial hemorrhage, Hypertension, Palpitations, Abnormal T-wave ORPHA:231625
Cardiomyopathy, Dilated, 1I
Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce... OMIM:604765
Zellweger Syndrome
Flat occiput, Micrognathia, High palate, Hepatomegaly, Multicystic kidney dysplasia, Hypospadias,... ORPHA:912
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Omphalocele, Papilledema, Ventricular septal defect, Bicuspid aortic valve, Premature thelarche, ... ORPHA:371428
Hemochromatosis, Type 1
Hepatomegaly, Alopecia, Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Hepatocel... OMIM:235200
Chromosome 2P16.1-P15 Deletion Syndrome
Cryptorchidism, High, narrow palate, Brachycephaly, Hydronephrosis, Joint contracture of the hand... OMIM:612513
Tempi Syndrome
Intracranial hemorrhage, Transudative pleural effusion, Ascites, Telangiectasia ORPHA:284227
Inflammatory Skin And Bowel Disease, Neonatal, 2
Coarctation of aorta, Hypertension, Polyhydramnios, Dehydration OMIM:616069
Acrofrontofacionasal Dysostosis 2
Hypospadias, Wide anterior fontanel, Widow's peak, Brachycephaly, High palate OMIM:239710
Long Qt Syndrome 3
Ventricular flutter, Nonimmune hydrops fetalis, Sudden cardiac death, Ventricular tachycardia, Hy... OMIM:603830
Intellectual Developmental Disorder, Autosomal Dominant 53
Ventricular septal defect, Bilateral tonic-clonic seizure, Intestinal malrotation, Cryptorchidism... OMIM:617798
Intellectual Disability-Strabismus Syndrome
Decreased response to growth hormone stimulation test, Congenital diaphragmatic hernia, Micrognat... ORPHA:363528
Metaphyseal Chondrodysplasia, Jansen Type
Waddling gait, Hypoparathyroidism, Hyperphosphaturia, Hip contracture, Micrognathia, Hypercalciur... OMIM:156400
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Inguinal hernia, Impulsivity, Aggressive behavior, Myopic astigmatism, Development... OMIM:620141
Hamamy Syndrome
Prolonged QRS complex, Microcytic anemia, Micrognathia, Brachycephaly, High palate, Sparse hair, ... OMIM:611174
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulating dehydroepiandros... ORPHA:95699
Progeria-Short Stature-Pigmented Nevi Syndrome
Multiple joint contractures, Lack of facial subcutaneous fat, Microcytic anemia, Micrognathia, T ... ORPHA:2959
Trichothiodystrophy 3, Photosensitive
Lymphopenia, Natal tooth, Brittle hair, Cataract, Meckel diverticulum, Increased circulating IgA ... OMIM:616395
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Prolong... OMIM:609040
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Ventricular septal defect, Epistaxis, Intracranial hemorrhage, Hypertens... ORPHA:369929
Deafness-Lymphedema-Leukemia Syndrome
Intracranial hemorrhage, Prolonged bleeding time, Bruising susceptibility, Lymphedema ORPHA:3226
Truncus Arteriosus
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... ORPHA:3384
Kyphoscoliotic Ehlers-Danlos Syndrome
Bicuspid aortic valve, Dextrocardia, Cerebral hemorrhage, Subdural hemorrhage, Arterial rupture, ... ORPHA:536545
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Dicarboxylic aciduria, Ataxia, Bilateral to... ORPHA:42
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Anuria, Hemolytic-uremic syndrome, Schistocytosis, Microangiopathic hemolytic an... OMIM:235400
Congenital Myopathy 8
Reduced vital capacity, Cardiomegaly, Congestive heart failure, Respiratory insufficiency, High p... OMIM:618654
Bronchial Neuroendocrine Tumor
Abnormal pulmonary valve cusp morphology, Anorexia, Nonproductive cough, Hepatomegaly, Tricuspid ... ORPHA:97287
Hereditary Bullous Dystrophy, Macular Type
Alopecia, Turricephaly, Congenital abnormal hair pattern, Pneumonia, Corneal opacity, Cataract, C... ORPHA:1867
Nephronophthisis-Like Nephropathy 2
Renal insufficiency, Polyuria, Periglomerular fibrosis, Stage 5 chronic kidney disease, Tubular l... OMIM:619468
Neurooculocardiogenitourinary Syndrome
Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Paten... OMIM:618652
Peroxisome Biogenesis Disorder 12A (Zellweger)
Prominence of the premaxilla, Wide anterior fontanel, Patent ductus arteriosus, Scaphocephaly, Cr... OMIM:614886
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Paraseptal emphysema, Neonatal respiratory distress, Nonspecific interstiti... OMIM:610921
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent... OMIM:275000
X-Linked Intellectual Disability, Wilson Type
Mandibular prognathia, Inguinal hernia, Abnormal position of hair whorl, Brachycephaly, Hydrocele... ORPHA:85290
Surfactant Metabolism Dysfunction, Pulmonary, 4
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Tachypnea, Restric... OMIM:300770
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Delayed eruption of teeth, Hepatomegaly, Ataxia, Limb joint contracture, Splenomegaly, Micronodul... OMIM:301072
Fetal Akinesia Deformation Sequence 1
Decreased fetal movement, Premature birth, Nonimmune hydrops fetalis, Polyhydramnios, Fetal akine... OMIM:208150
Apert Syndrome
Mandibular prognathia, Frontal bossing, Delayed eruption of teeth, Cloverleaf skull, Hypoplasia o... ORPHA:87
Rh Deficiency Syndrome
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Tachycardia, Anisocytosis, Jaundice, Sphero... ORPHA:71275
9P13 Microdeletion Syndrome
Microretrognathia, Highly arched eyebrow, Precocious puberty, Brachycephaly, High palate, Myoclon... ORPHA:324313
Cartilage-Hair Hypoplasia
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Macrocytic anemia, Anal ... OMIM:250250
Mucopolysaccharidosis, Type Iiic
Hepatomegaly, Hyperactivity, Dolichocephaly, Heparan sulfate excretion in urine, Splenomegaly, Sy... OMIM:252930
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Mandibular prognathia, Flat occiput, Brachycephaly, Shagreen patch ORPHA:2511
Lipodystrophy, Congenital Generalized, Type 4
Prolonged QT interval, Tachycardia, Atrial fibrillation, Bradycardia, Vascular dilatation OMIM:613327
Ataxia-Telangiectasia
Conjunctival telangiectasia, Sinusitis, Choreoathetosis, T lymphocytopenia, Hypoplasia of the thy... OMIM:208900
Alg9-Cdg
Villous atrophy, Micrognathia, Brachycephaly, Right ventricular dilatation, Abnormal left ventric... ORPHA:79328
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Mandibular prognathia, Hyperactivity, Hypopigmentation of hair, Ataxia, Broad-based gait, Flat oc... ORPHA:98794
9Q33.3Q34.11 Microdeletion Syndrome
Epistaxis, Abnormal hair pattern, Highly arched eyebrow, Cryptorchidism, Patent ductus arteriosus... ORPHA:495818
Parkes Weber Syndrome
Abnormal bleeding, Peripheral arteriovenous fistula, Subarachnoid hemorrhage, Cerebral arterioven... ORPHA:90307
Menkes Disease
Intracranial hemorrhage, Intrauterine growth retardation OMIM:309400
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Frontal bossing, Turricephaly, Hypoplasia of the maxilla, Optic atrophy, Brachycephaly, Respirato... ORPHA:93262
De Barsy Syndrome
Delayed eruption of teeth, Inguinal hernia, Cataract, Ventricular septal defect, Corneal opacity,... ORPHA:2962
Osteopathia Striata-Cranial Sclerosis Syndrome
Delayed eruption of teeth, Frontal bossing, Flat occiput, Cataract, Micrognathia, Facial hyperost... ORPHA:2780
Aortic Aneurysm, Familial Thoracic 7
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture OMIM:613780
Pediatric-Onset Graves Disease
Thyrotoxicosis with diffuse goiter, Hyperhidrosis, Increased circulating T4 concentration, Hepato... ORPHA:525731
Frontofacionasal Dysplasia
Cataract, Brushfield spots, Brachycephaly, Cleft palate, Microcornea, Limbal dermoid, Absent inne... ORPHA:1791
Baller-Gerold Syndrome
Frontal bossing, Failure to thrive in infancy, Micrognathia, Malabsorption, Lymphoma, Abnormality... ORPHA:1225
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Mandibular prognathia, Apnea, Decreased response to growth hormone stimulation test, Micrognathia... OMIM:619503
Congenital Myopathy 22A, Classic
Neonatal death, Tricuspid regurgitation, Bradycardia, Polyhydramnios OMIM:620351
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome
Ataxia, Micrognathia, Flexion contracture, Brachycephaly, Respiratory insufficiency, Seizure, Hig... ORPHA:562528
Gorlin-Chaudhry-Moss Syndrome
Sclerocornea, Hypoplasia of the maxilla, Patent ductus arteriosus, Low anterior hairline, Brachyc... ORPHA:2095
Cholera
Tachycardia, Abnormality of renal excretion, Tachypnea, Seizure, Hypovolemic shock, Aspiration pn... ORPHA:173
Insulinoma
Abnormality of the pancreatic islet cells, Primary hyperparathyroidism, Polyphagia, Increased bod... ORPHA:97279
Crouzon Syndrome With Acanthosis Nigricans
Melanocytic nevus, Brachycephaly, Craniosynostosis, Midface retrusion OMIM:612247
Al Kaissi Syndrome
Broad-based gait, High, narrow palate, Synophrys, Brachycephaly, Seizure, Decreased body weight, ... OMIM:617694
Congenital Disorder Of Deglycosylation 1
Respiratory distress, Oral-pharyngeal dysphagia, Brachycephaly, Dysmetria, Hyperhidrosis, Myoclon... OMIM:615273
Aortic Valve Disease 2
Aortic regurgitation, Bicuspid aortic valve, Calcification of the aorta, Aortic tortuosity, Coarc... OMIM:614823
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Frontal bossing, Alopecia, Cryptorchidism, Brachycephaly, Fine hair, Hypogonadism, Coronal cranio... ORPHA:228390
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Mandibular prognathia, Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Protruding tongue, ... ORPHA:324410
Mucopolysaccharidosis, Type Iiia
Hepatomegaly, Hyperactivity, Inguinal hernia, Heparan sulfate excretion in urine, Splenomegaly, S... OMIM:252900
Cri-Du-Chat Syndrome
Microretrognathia, Hyperactivity, Cataract, Small for gestational age, Hypospadias, Abnormality o... OMIM:123450
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Mandibular prognathia, Rieger anomaly, Abnormality of the kidney, Nephrolithiasis, Brachycephaly,... ORPHA:521445
Duplication Of Urethra
Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence... ORPHA:237
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatomegaly, Hepatic steatosis, Diabetes mellitus, Pancreatic fibrosis, Ataxia, Achilles tendon ... OMIM:616263
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Frontal bossing, Wide anterior fontanel, Abnormal renal morphology, Flexion contracture, Brachyce... OMIM:207410
Houge-Janssens Syndrome 3
Frontal bossing, Inguinal hernia, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure ... OMIM:618354
Illum Syndrome
Bradycardia OMIM:208155
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... OMIM:618780
Osteopetrosis With Renal Tubular Acidosis
Micrognathia, Brachycephaly, Leukopenia, High palate, Hepatomegaly, Persistence of primary teeth,... ORPHA:2785
Legius Syndrome
Neoplasm of the central nervous system, Multiple lipomas, Male urethral meatus stenosis, Hyperact... ORPHA:137605
Attrv30M Amyloidosis
Cardiomegaly, Weight loss, Cardiomyopathy, Nephropathy, Abnormal renal physiology ORPHA:85447
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Highly arched eyebrow, Aggressive behavior, Cryptorchidism, Low anterior hairline, Hirsutism, Bra... OMIM:619244
Larsen-Like Syndrome
Frontal bossing, Wide anterior fontanel, Dental malocclusion, Brachycephaly, Cleft palate OMIM:608545
Aymé-Gripp Syndrome
Sparse scalp hair, Pericarditis, Cataract, Proteinuria, Inguinal hernia, Craniosynostosis, Congen... ORPHA:1272
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Hepatomegaly, Failure to thrive, Tachypnea, Hepatitis, Progressive cerebellar ataxia, Seizure, Ge... ORPHA:415
Fg Syndrome Type 1
Micrognathia, High palate, Compulsive behaviors, Atrial septal defect, Abnormal social behavior, ... ORPHA:93932
Warburg Micro Syndrome 2
Cataract, Cryptorchidism, Flexion contracture, Low anterior hairline, Brachycephaly, Developmenta... OMIM:614225
Neurocutaneous Melanocytosis
Intracranial hemorrhage, Meningocele ORPHA:2481
Chromosome 1P36 Deletion Syndrome, Distal
Bicuspid aortic valve, Ectopic kidney, Synophrys, Brachycephaly, High palate, Atrial septal defec... OMIM:607872
Fontaine Progeroid Syndrome
Mandibular prognathia, Bicuspid aortic valve, Micrognathia, High, narrow palate, Synophrys, Low a... OMIM:612289
Marshall Syndrome
Frontal bossing, Cataract, Sparse eyelashes, Micrognathia, Sparse eyebrow, Hypoplasia of the maxi... ORPHA:560
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Interstitial pneumon... ORPHA:217563
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Intestinal malrotation, Highly arched eyebrow, Synophrys, Velopharyngeal insufficiency, Submucous... OMIM:614701
Hydranencephaly
Abnormal internal carotid artery morphology, Dilatation of the ventricular cavity, Abnormal cereb... ORPHA:2177
Monosomy 18P
Alopecia, Micrognathia, Carious teeth, Brachycephaly, Cleft palate, Low posterior hairline, Hypot... ORPHA:1598
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Respiratory failure, Pulmonary arterial... OMIM:265120
Combined Oxidative Phosphorylation Deficiency 8
Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Hypertrophic ... OMIM:614096
Acyl-Coa Dehydrogenase 9 Deficiency
Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dilated cardiomyopathy, Pr... ORPHA:99901
Cowden Syndrome 1
Micrognathia, Hypoplasia of the maxilla, Hamartomatous polyposis, High palate, Hypothyroidism, Tr... OMIM:158350
Werner Syndrome
Myocardial infarction, Abnormal hair whorl, Squamous cell carcinoma, Premature graying of hair, N... ORPHA:902
Bohring-Opitz Syndrome
Apnea, Cardiomegaly, Micrognathia, Synophrys, Congenital contracture, Medulloblastoma, Bilateral ... ORPHA:97297
Lmna-Related Cardiocutaneous Progeria Syndrome
Ventricular hypertrophy, Mitral valve calcification, Congestive heart failure, Intracranial hemor... ORPHA:363618
Apert Syndrome
Mandibular prognathia, Brachycephaly, Hyperhidrosis, Bifid uvula, Overriding aorta, Sagittal cran... OMIM:101200
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Anuria, Ileal atresia, Patent ductus arteriosus, Peritonitis, Megacystis, Pyelonephritis, Fetal m... OMIM:619351
Atrial Septal Defect, Coronary Sinus Type
Unroofed coronary sinus, Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic compo... ORPHA:99104
Acrofrontofacionasal Dysostosis
Hypospadias, Camptodactyly of finger, Brushfield spots, Brachycephaly, Cleft palate, High palate,... ORPHA:1784
Grant Syndrome
Frontal bossing, Brachycephaly, Micrognathia ORPHA:2097
Multiple Endocrine Neoplasia, Type I
Subcutaneous lipoma, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentra... OMIM:131100
Cowden Syndrome
Hamartomatous polyposis, Neoplasm of the central nervous system, Neoplasm, High palate, Papilloma... ORPHA:201
X-Linked Intellectual Disability, Armfield Type
Mandibular prognathia, Inguinal hernia, Cataract, Facial capillary hemangioma, Micrognathia, Cryp... ORPHA:85276
Primary Hepatic Neuroendocrine Carcinoma
Intrahepatic cholestasis with episodic jaundice, Anorexia, Carcinoid tumor, Biliary tract obstruc... ORPHA:100085
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Absent eyebrow, Frontal bossing, Hypospadias, Abnormal dental enamel morphology, Micrognathia, Ab... ORPHA:85199
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Sparse scalp hair, Renal insufficiency, Proteinuria, Sparse eyelashes, Sparse eyebrow, Fine hair,... OMIM:614748
Cooper-Jabs Syndrome
Frontal bossing, Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic her... ORPHA:1488
Transaldolase Deficiency
Edema, Hydrops fetalis, Telangiectasia, Biventricular hypertrophy, Coarctation of aorta, Atrial s... ORPHA:101028
Exercise-Induced Malignant Hyperthermia
Anhidrosis, Ataxia, Oliguria, Acute kidney injury, Thrombocytopenia ORPHA:466650
Cdags Syndrome
Sparse scalp hair, Frontal bossing, Sparse eyelashes, Hypospadias, Sagittal craniosynostosis, Rec... OMIM:603116
Hypercalcemia, Infantile, 1
Failure to thrive, Polyuria, Nephrolithiasis, Hypercalciuria, Weight loss, Nephrocalcinosis, Medu... OMIM:143880
Autoerythrocyte Sensitization Syndrome
Gastrointestinal hemorrhage, Epistaxis, Edema, Intracranial hemorrhage, Oral cavity bleeding, Men... ORPHA:324636
Cardiogenic Shock
Oliguria ORPHA:97292
Acromelic Frontonasal Dysplasia
Anterior pituitary hypoplasia, Midline central nervous system lipomas, Cryptorchidism, Brachyceph... ORPHA:1827
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Angiofibromas, Fasting hyperinsulinemi... ORPHA:276152
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Micrognathia, Asplenia, Brachycephaly, Atrial sept... OMIM:265380
Short Stature-Micrognathia Syndrome
Cataract, Ventricular septal defect, Ataxia, Micrognathia, Cryptorchidism, Scaphocephaly, Retrogn... OMIM:617164
Lethal Congenital Contracture Syndrome 5
Subdural hemorrhage, Retinal hemorrhage, Polyhydramnios OMIM:615368
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Mandibular prognathia, High, narrow palate, Low anterior hairline, Brachycephaly, Self-mutilation... OMIM:619950
Combined Oxidative Phosphorylation Defect Type 39
Intrauterine growth retardation, Bradycardia ORPHA:565624
Cystinosis, Nephropathic
Oral-pharyngeal dysphagia, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuri... OMIM:219800
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Glomerulonephritis, Crackles, Cardiomegaly, Diffuse alveolar hemorrhage, Dyspnea, H... ORPHA:99931
Hsd10 Disease, Infantile Type
Restlessness, Cardiomegaly, Optic atrophy, Choreoathetosis, Seizure, Dysphagia, Loss of ambulatio... ORPHA:391428
Brain-Lung-Thyroid Syndrome
Thyroid dysgenesis, Respiratory distress, Elevated circulating thyroid-stimulating hormone concen... ORPHA:209905
Carnitine Deficiency, Systemic Primary
Respiratory distress, Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly, Congestive heart failure... OMIM:212140
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Frontal bossing, Hyperactivity, Hypospadias, Hyperopic astigmatism, Micrognathia, Fine hair, Asti... ORPHA:363686
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphopenia, Alopecia, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocytopenia... ORPHA:169154
Familial Atrial Myxoma
Tricuspid regurgitation, Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Congestive heart fa... ORPHA:615
Neuroendocrine Tumor Of The Colon
Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Anorexia, Chroni... ORPHA:100080
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, First degree atrioventricular block, Pedal edema, Right ventricular dilatati... ORPHA:99103
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Mandibular prognathia, Brachycephaly, Myoclonic seizure, Posterior plagiocephaly, High palate, Ab... OMIM:620330
Hallermann-Streiff Syndrome
Micrognathia, High, narrow palate, Brachycephaly, Glossoptosis, Rib exostoses, Sparse hair, Hypot... ORPHA:2108
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Abnormality of the spleen, Brachycephaly, Hepatic fibrosis, Bacterial endocarditis, Papilledema, ... ORPHA:2072
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Spina bifida occulta, Subdural hemorrhage, Polyhydramnios OMIM:618291
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Seizure, Congestive heart failure, Cardiomegaly OMIM:300886
Proteus-Like Syndrome
Mandibular prognathia, Thymus hyperplasia, Cataract, Splenomegaly, Abnormality of the parathyroid... ORPHA:2969
Congenital Disorder Of Glycosylation, Type Iit
Multifocal seizures, Urinary incontinence, Brachycephaly, Pineal cyst, Iron deficiency anemia, Se... OMIM:618885
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Second degree atrioventricular block, Syncope, Palpitations, Sinus bradycardia OMIM:616812
Thrombocytopenia-Absent Radius Syndrome
Ureteral duplication, Micrognathia, Brachycephaly, Atrial septal defect, Axial malrotation of the... OMIM:274000
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale, Coarctation of aorta OMIM:611363
Richieri-Costa/Guion-Almeida Syndrome
Mandibular prognathia, Brachycephaly, Cleft palate, Gait ataxia, Iris coloboma OMIM:268850
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Tricuspid regurgitation, Bicuspid aortic valve, Spina bifida, Patent ductus arteriosus, Anomalous... ORPHA:1120
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Increased circulating IgG level, Leukopenia, T lymphocytopenia, High pala... ORPHA:443811
Joubert Syndrome 14
Encephalocele, Ventricular septal defect, Meningocele, Intracranial hemorrhage, Hypertension OMIM:614424
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency
Elevated urinary 3-hydroxybutyric acid, Ketonuria, Tachypnea OMIM:245050
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Ketonuria, Apnea, Elevated circulating growth hormone concentration, Large for gestational age, M... ORPHA:79644
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Tachycardia, Ventricular septal defect, Retinal hemorrhage, Hypertension, Bradycardia, Intrauteri... OMIM:614653
Aortic Aneurysm, Familial Thoracic 8
Coronary artery dissection, Descending aortic dissection, Coronary artery aneurysm, Ascending aor... OMIM:615436
Juvenile Sialidosis Type 2
Hepatomegaly, Inguinal hernia, Cataract, Ataxia, Generalized myoclonic seizure, Corneal opacity, ... ORPHA:93399
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Flat occiput, Low anterior hairline, Brachycephaly, Lambdoidal craniosynostosis, Bicoronal synost... OMIM:618736
Trichothiodystrophy 1, Photosensitive
Brittle hair, Flexion contracture, Squamous cell carcinoma, Microcornea, Sparse hair, Tiger tail ... OMIM:601675
Acrodysostosis
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Cryptorchidism, Brac... ORPHA:950
Hypophosphatasia, Infantile
Intracranial hemorrhage, Stillbirth, Polyhydramnios OMIM:241500
Mucolipidosis Ii Alpha/Beta
Brittle hair, Cardiomegaly, Micrognathia, Sparse hair, Megalocornea, Hypopigmentation of the skin... OMIM:252500
Vici Syndrome
Albinism, Micrognathia, Leukopenia, T lymphocytopenia, Abnormal thymus morphology, High palate, N... OMIM:242840
16P12.1P12.3 Triplication Syndrome
Nail-biting, Hyperactivity, Tachycardia, Decreased response to growth hormone stimulation test, B... ORPHA:485405
Chromosome 10Q26 Deletion Syndrome
Omphalocele, Atrial septal defect, Hyperactivity, Broad-based gait, Small for gestational age, Fr... OMIM:609625
Hypercalcemia, Infantile, 2
Failure to thrive, Polyuria, Hypercalciuria, Renal phosphate wasting, Nephrocalcinosis, Medullary... OMIM:616963
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Inguinal hernia, Multifocal seizures, Ataxia, Bilateral tonic-clonic seizure, Highl... OMIM:618143
Cutis Laxa, Autosomal Recessive, Type Ib
Arterial tortuosity, Aortic root aneurysm, Generalized arterial tortuosity, Bradycardia, Pulmonar... OMIM:614437
Prader-Willi Syndrome Due To Translocation
Respiratory distress, Flat occiput, Decreased response to growth hormone stimulation test, Anteri... ORPHA:177907
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Elevated jugular venous pressure, Diabetes mellitus, Hypogonadotropic hypogonadism,... ORPHA:465508
Craniosynostosis 2
Frontal bossing, Turricephaly, Cleft soft palate, Craniosynostosis, Unicoronal synostosis, Supern... OMIM:604757
Aneurysm Of Sinus Of Valsalva
Oliguria, Bacterial endocarditis ORPHA:1054
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Bradycardia OMIM:608800
Wagro Syndrome
Mandibular prognathia, Cataract, Proteinuria, Corneal opacity, Aggressive behavior, Micrognathia,... OMIM:612469
Muenke Syndrome
Hypopigmentation of hair, Hypermelanotic macule, High, narrow palate, Brachycephaly, Hypopigmente... ORPHA:53271
Familial Idiopathic Dilatation Of The Right Atrium
Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid regurgitation, A... ORPHA:1677
19P13.13 Microdeletion Syndrome
Optic nerve hypoplasia, Optic atrophy, Brachycephaly, Seizure, Macroglossia, Long eyelashes, High... ORPHA:357001
Stevenson-Carey Syndrome
Central hypoventilation, Brachycephaly, Seizure, Camptodactyly, Atrial septal defect, Joint contr... OMIM:611961
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Severe B lymphocytopenia, Micrognathia, Hepatic fibrosis, Cough, Sparse hair, Atrial septal defec... OMIM:620005
Hydrops Fetalis
Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Abnormal heart morph... ORPHA:1041
Bone Marrow Failure Syndrome 3
Aplastic anemia, Micrognathia, Pancreatic steatosis, Hernia, Neutropenia, Sparse hair, Amelogenes... OMIM:617052
Hypomandibular Faciocranial Dysostosis
Aplasia/Hypoplasia of the tongue, Trigonocephaly, Craniosynostosis, Patent ductus arteriosus, Bra... ORPHA:1790
Weill-Marchesani Syndrome 2
Hypoplasia of the maxilla, Broad skull, Brachycephaly, High palate, Patent ductus arteriosus, Sha... OMIM:608328
Weill-Marchesani Syndrome 1
Cataract, Ventricular septal defect, Ectopia lentis, Hypoplasia of the maxilla, Broad skull, Pate... OMIM:277600
Stankiewicz-Isidor Syndrome
Ureteral duplication, Hyperactivity, Ventricular septal defect, Hypospadias, Micrognathia, Crypto... OMIM:617516
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Microretrognathia, Frontal bossing, Inguinal hernia, Bicuspid aortic valve, Craniosynostosis, Car... OMIM:245600
Hermansky-Pudlak Syndrome
Anorexia, Neutropenia, Hypopigmentation of the skin, Iris hypopigmentation, Abnormal dental ename... ORPHA:79430
Mend Syndrome
Hyperactivity, Cataract, Aggressive behavior, Micrognathia, Cryptorchidism, Wide anterior fontane... ORPHA:401973
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tetralogy of Fallot, Ventricular septal defect, Abnormality of the pulmonary artery, Abnormal aor... ORPHA:1166
Cardiomyopathy, Familial Hypertrophic, 17
Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Myocardial fibrosis, Palpitations,... OMIM:613873
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Hepatomegaly, Abnormal peritoneum morphology, Testicular neoplasm, Cach... ORPHA:83469
Skin Creases, Congenital Symmetric Circumferential, 1
Micrognathia, Brachycephaly, Cleft palate, Microcornea, Localized neuroblastoma, High palate, Hyp... OMIM:156610
Arthrogryposis And Ectodermal Dysplasia
Absent eyebrow, Diabetes mellitus, Abnormal dental enamel morphology, Trichiasis, Brachycephaly, ... OMIM:601701
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Pancytopenia, Proteinuria, Polyuria, Renal salt wasting, Thrombocytopenia, Chronic kidney disease... OMIM:613845
Ventricular Fibrillation, Paroxysmal Familial, 1
Tachycardia, Syncope, Ventricular fibrillation OMIM:603829
Renal Tubular Dysgenesis
Renotubular dysgenesis, Abnormality of the urinary system, Anuria OMIM:267430
Hyperparathyroidism, Transient Neonatal
Respiratory distress, Frontal bossing, Hyperparathyroidism, Inguinal hernia, Unilateral renal age... OMIM:618188
Kaposiform Lymphangiomatosis
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Pericardial effusion, Abnormal lymphatic vesse... ORPHA:464329
Aspergillosis
Intracranial hemorrhage, Pleural effusion, Stroke ORPHA:1163
Mevalonic Aciduria
Normocytic hypoplastic anemia, Cataract, Failure to thrive in infancy, Ataxia, Fluctuating spleno... OMIM:610377
Wolfram Syndrome 1
Sideroblastic anemia, Neurogenic bladder, Hydroureter, Ataxia, Diabetes mellitus, Diabetes insipi... OMIM:222300
Neuroendocrine Tumor Of The Rectum
Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Anorexia, Chroni... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Anorexia, Chroni... ORPHA:100082
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Bicuspid aortic valve, Neoplasm, Compulsive behaviors, Vesicoureteral reflux, Atrial septal defec... ORPHA:353281
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Polyuria, Renal magnesium wasting, Self-biting, Nephrocalcinosis, Renal potassium ... OMIM:618314
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Tachycardia, Ventricular septal defect, Patent ductus arteriosus, Hypertension, Atrial septal defect OMIM:613870
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder, Frontal bossing, Natal tooth, Hamartoma of tongue, Micrognathia, Esophageal d... OMIM:617925
Oculoectodermal Syndrome
Giant cell granuloma of mandible, Hyperactivity, Transient ischemic attack, Supernumerary nipple,... OMIM:600268
Nephronophthisis 11
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Anisocoria, R... OMIM:613550
Antley-Bixler Syndrome
Frontal bossing, Turricephaly, Camptodactyly of finger, Craniosynostosis, Abnormal renal morpholo... ORPHA:83
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Frontal bossing, Inguinal hernia, Abnormal mitral valve morphology, Brachycephaly, Biparietal nar... ORPHA:1292
Stormorken Syndrome
Abnormal bleeding, Epistaxis, Subarachnoid hemorrhage, Stroke-like episode, Bruising susceptibility OMIM:185070
Alpha-Mannosidosis, Infantile Form
Mandibular prognathia, Optic disc pallor, Pancytopenia, Cataract, Ataxia, Pneumonia, Highly arche... ORPHA:309282
Neu-Laxova Syndrome 1
Decreased fetal movement, Hydranencephaly, Spina bifida, Polyhydramnios, Fetal akinesia sequence,... OMIM:256520
Malignant Hyperthermia Of Anesthesia
Hypercapnia, High-output congestive heart failure, Tachypnea, Cardiomyocyte mitochondrial prolife... ORPHA:423
Hypomagnesemia 3, Renal
Recurrent urinary tract infections, Failure to thrive, Polyuria, Hypocitraturia, Renal magnesium ... OMIM:248250
Multicentric Osteolysis, Nodulosis, And Arthropathy
Delayed eruption of teeth, Frontal bossing, Peripheral opacification of the cornea, Hip contractu... OMIM:259600
Infantile Myofibromatosis
Neoplasm of the pancreas, Benign neoplasm of the central nervous system, Intestinal obstruction, ... ORPHA:2591
Yellow Fever
Renal insufficiency, Anuria, Acute pancreatitis, Neutrophilia, Pancreatic hyperplasia, Leukocytos... ORPHA:99829
Mirage Syndrome
Intracranial hemorrhage, Intrauterine growth retardation, Patent ductus arteriosus, Petechiae OMIM:617053
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Polyhydramnios, Postnatal growth retardation, Large placenta, Umbilical hernia, Intrauterine grow... ORPHA:254528
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Frontal bossing, Brachycephaly, Obesity, Plagiocephaly, Tip-toe gait, Astigmatism, Spastic gait OMIM:617296
Pseudo-Torch Syndrome 1
Microretrognathia, Hepatomegaly, Renal insufficiency, Cataract, Splenomegaly, Patent ductus arter... OMIM:251290
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Mandibular prognathia, Bicuspid aortic valve, Micrognathia, Synophrys, Brachycephaly, High palate... OMIM:612474
Type 1 Diabetes Mellitus
Polydipsia, Polyphagia, Polyuria OMIM:222100
Heterotaxy, Visceral, 12, Autosomal
Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septal defect, Patent... OMIM:619702
Renal Glucosuria
Polyuria, Enuresis nocturna, Glycosuria, Polydipsia, Polyphagia OMIM:233100
Cardiomyopathy, Familial Hypertrophic, 27
Prolonged QT interval, Tricuspid regurgitation, Pterygium, Cardiac arrest, Cardiomegaly, Left ven... OMIM:618052
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Right axis deviation, Subarachnoid hemorrhage, Cardiomegaly, Shor... OMIM:232300
Dubowitz Syndrome
Abnormality of neutrophils, Micrognathia, Rectal prolapse, Low anterior hairline, Abnormality of ... ORPHA:235
Cornelia De Lange Syndrome
Hypoplasia of penis, Congenital diaphragmatic hernia, Micrognathia, Synophrys, Low anterior hairl... ORPHA:199
Cowden Syndrome 6
Colonic diverticula, Hyperthyroidism, Subcutaneous lipoma, Cataract, Micrognathia, Hypoplasia of ... OMIM:615109
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hypoplasia of the maxilla, Rieger anomaly, Brachycephaly, Abnormally prominent line of Schwalbe OMIM:109120
Coffin-Siris Syndrome 1
Dry hair, Congenital diaphragmatic hernia, Ectopic kidney, Brachycephaly, Gait ataxia, High palat... OMIM:135900
Wiskott-Aldrich Syndrome
Prolonged bleeding time, Recurrent intrapulmonary hemorrhage, Epistaxis, Sudden cardiac death, He... ORPHA:906
Carpenter Syndrome 2
Bilateral cryptorchidism, High, narrow palate, Low anterior hairline, Brachycephaly, Knee flexion... OMIM:614976
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arterios... ORPHA:284169
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Intrauterine growth retardation, Truncus arteriosus, Abnormal aortic morphology, Ventricular sept... ORPHA:2516
Aica-Ribosuria Due To Atic Deficiency
Frontal bossing, Secundum atrial septal defect, Optic atrophy, Brachycephaly, Seizure, Elevated u... OMIM:608688
Cleidocranial Dysplasia
Mandibular prognathia, Frontal bossing, Delayed eruption of teeth, Abnormal dental enamel morphol... ORPHA:1452
Dyskeratosis Congenita
Abnormality of neutrophils, Hypoplasia of the maxilla, White hair, Hyperhidrosis, Premature grayi... ORPHA:1775
Gardner Syndrome
Duodenal polyposis, Astrocytoma, Brain neoplasm, Multiple gastric polyps, Abnormality of skin pig... ORPHA:79665
Restrictive Dermopathy
Decreased fetal movement, Premature birth, Premature delivery because of cervical insufficiency o... ORPHA:1662
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Cardiomyopathy, Cerebellar hemorrhage, Dehydration OMIM:251000
Bardet-Biedl Syndrome 17
Polydipsia, Polyuria, Dextrocardia, Situs inversus totalis, Stage 5 chronic kidney disease, Renal... OMIM:615994
Ectodermal Dysplasia-Syndactyly Syndrome 2
Sparse hair, Hyperhidrosis, Enamel hypoplasia, Cardiomegaly OMIM:613576
Gaucher Disease, Perinatal Lethal
Respiratory distress, Hepatomegaly, Apnea, Akinesia, Cardiomegaly, Micrognathia, Splenomegaly, Th... OMIM:608013
Cowden Syndrome 5
Colonic diverticula, Hyperthyroidism, Subcutaneous lipoma, Cataract, Micrognathia, Hypoplasia of ... OMIM:615108
16P13.11 Microduplication Syndrome
Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept... ORPHA:261243
Familial Cerebral Cavernous Malformation
Venous malformation, Cerebral hemorrhage ORPHA:221061
Hypothyroidism Due To Tsh Receptor Mutations
Umbilical hernia, Bradycardia, Edema ORPHA:90673
Loeys-Dietz Syndrome 5
Reduced subcutaneous adipose tissue, Inguinal hernia, Ventricular septal defect, Failure to thriv... OMIM:615582
Familial Melanoma
Neoplasm of the pancreas, Neoplasm of the stomach, Abnormal hair morphology, Melanoma, Neoplasm o... ORPHA:618
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Elevated urinary 3-hydroxybutyric acid, Ketonuria, Jaundice, Tachypnea, Lacticaciduria, Elevated ... OMIM:615751
Kaufman Oculocerebrofacial Syndrome
Optic disc pallor, Neonatal respiratory distress, Ventricular septal defect, Intestinal malrotati... OMIM:244450
Frontonasal Dysplasia 2
Sparse eyelashes, Alopecia totalis, Craniosynostosis, Bilateral cryptorchidism, Sparse eyebrow, P... OMIM:613451
Cartilage-Hair Hypoplasia
Hepatomegaly, Abnormality of retinal pigmentation, Aganglionic megacolon, Malabsorption, Sparse e... ORPHA:175
Cerebrooculonasal Syndrome
Hypoplasia of penis, Sparse eyelashes, Sparse eyebrow, Brachycephaly, High palate ORPHA:66625
Alpha-N-Acetylgalactosaminidase Deficiency
Cataract, Cardiomegaly, Recurrent pneumonia, Oligosacchariduria, Seizure ORPHA:3137
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Slender build, Bilateral tonic-clonic seizure, Generalized non-motor (absence) sei... OMIM:617600
Rubinstein-Taybi Syndrome 1
Respiratory distress, Premature thelarche, Micrognathia, Bilateral cryptorchidism, Hypoplasia of ... OMIM:180849
8P23.1 Microdeletion Syndrome
Patent ductus arteriosus, Pulmonary artery stenosis, Hypertrophic cardiomyopathy, Abnormal cardia... ORPHA:251071
Fucosidosis
Hepatomegaly, Anhidrosis, Frontal bossing, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Fl... OMIM:230000
Aprosencephaly Syndrome
Aprosencephaly, Anencephaly OMIM:207770
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities
Mandibular prognathia, Hyperactivity, Hypermelanotic macule, Cryptorchidism, Focal impaired aware... OMIM:618505
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Brachycephaly, Craniosynostosis OMIM:614416
Neuroendocrine Tumor Of Stomach
Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Anorexia, Chroni... ORPHA:100075
Osteogenesis Imperfecta, Type Xx
Mandibular prognathia, Highly arched eyebrow, Brachycephaly, Narrow palate, Plagiocephaly, High p... OMIM:618644
Nephronophthisis 1
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... OMIM:256100
Turnpenny-Fry Syndrome
Mandibular prognathia, Sparse scalp hair, Frontal bossing, Aortic regurgitation, Wide anterior fo... OMIM:618371
Osteogenesis Imperfecta, Type Xii
Delayed eruption of teeth, Micrognathia, High palate, Midface retrusion, Brachyturricephaly, Dent... OMIM:613849
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Cerebral vasculitis, Subarachnoid hemorrhage OMIM:243700
Congenital Disorder Of Glycosylation, Type Im
Dilated cardiomyopathy, Bradycardia OMIM:610768
Raine Syndrome
Mandibular prognathia, Natal tooth, Hydroureter, Highly arched eyebrow, Micrognathia, Protruding ... OMIM:259775
Bannayan-Riley-Ruvalcaba Syndrome
Angina pectoris, Lymphedema, Telangiectasia, Intracranial hemorrhage, Arteriovenous malformation,... ORPHA:109
Intellectual Developmental Disorder, X-Linked 98
Mandibular prognathia, Urinary incontinence, Self-biting, Abnormal repetitive mannerisms, Hyperac... OMIM:300912
Cirrhotic Cardiomyopathy
Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Left atrial enlargement, C... ORPHA:57777
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Brachycephaly OMIM:619972
Short Syndrome
Delayed eruption of teeth, Frontal bossing, Rieger anomaly, Cataract, Small for gestational age, ... OMIM:269880
Craniofrontonasal Syndrome
Curly hair, Frontal bossing, Hypospadias, Congenital diaphragmatic hernia, Cryptorchidism, Widow'... OMIM:304110
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development
Cataract, Cryptorchidism, Brachycephaly, Cleft palate, Seizure, Long eyelashes, Absent axillary h... OMIM:601353
Duplication Of The Pituitary Gland
Midface retrusion, Supernumerary tooth, Abnormal pituitary gland morphology, Volvulus, Retrognath... ORPHA:314621
Osteogenesis Imperfecta
Aortic regurgitation, Abnormal endocardium morphology, Cerebral hemorrhage, Mitral valve prolapse... ORPHA:666
Ruijs-Aalfs Syndrome
Frontal bossing, Cataract, Lipodystrophy, Micrognathia, Hepatocellular carcinoma, Posterior subca... OMIM:616200
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Hepatomegaly, Ataxia, Polyuria, Proximal tubulopathy, Failure to thrive OMIM:560000
Cerebral Visual Impairment
Intracranial hemorrhage, Ischemic stroke ORPHA:447788
Frank-Ter Haar Syndrome
Flat occiput, Ventricular septal defect, Micrognathia, Secundum atrial septal defect, Wide anteri... OMIM:249420
Tarp Syndrome
Subdural hemorrhage, Neonatal death, Atrial septal defect, Intrauterine growth retardation, Tetra... OMIM:311900
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Patent ductus arteriosus, Ventricular septal defect, Cerebral hemorrhage OMIM:616682
Momo Syndrome
Delayed eruption of teeth, Frontal bossing, Large for gestational age, Abnormality of the thyroid... ORPHA:2563
21Q22.11Q22.12 Microdeletion Syndrome
Hyperactivity, Failure to thrive in infancy, Thrombocytopenia, Tongue thrusting, Scaphocephaly, S... ORPHA:261323
Chime Syndrome
Ventricular septal defect, Corneal opacity, Supernumerary tooth, Tetralogy of Fallot, Brachycepha... ORPHA:3474
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Mandibular prognathia, Hyperactivity, Hyperthyroidism, Diabetes mellitus, Aggressive behavior, Sh... ORPHA:449291
20Q11.2 Microduplication Syndrome
Inguinal hernia, Cryptorchidism, Brachycephaly, Seizure, Trigonocephaly, Micropenis, Retrognathia ORPHA:363659
Hypoplastic Left Heart Syndrome
Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial... ORPHA:2248
Familial Bicuspid Aortic Valve
Aortic regurgitation, Aortic arch aneurysm, Bicuspid aortic valve, Aortic valve calcification, He... ORPHA:402075
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Aspiration pneumonia, Cough, Nephropathy, Achalasia, Tracheobronchial leiomyomatosis, Diffuse lei... ORPHA:1018
Pseudohypoparathyroidism, Type Ia
Thickened calvaria, Delayed eruption of teeth, Cataract, Pseudohypoparathyroidism, Obesity, Eleva... OMIM:103580
Congenital Fibrinogen Deficiency
Abnormal bleeding, Tachycardia, Internal hemorrhage, Prolonged prothrombin time, Gingival bleedin... ORPHA:335
Cree Mental Retardation Syndrome
Hypospadias, Cleft soft palate, Micrognathia, Cryptorchidism, Brachycephaly OMIM:606851
Peroxisome Biogenesis Disorder 5A (Zellweger)
Generalized-onset seizure, Micrognathia, Renal cyst, High palate, Atrial septal defect, Intrahepa... OMIM:614866
Neuroleptic Malignant Syndrome
Tachycardia, Pulmonary embolism, Dehydration, Hypertension, Bradycardia, Hypotension, Arrhythmia,... ORPHA:94093
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Hepatomegaly, Autoimmune hemolytic anemia, Atrophic gastritis, Bilateral tonic-clonic seizure, Pn... ORPHA:436159
3-Methylglutaconic Aciduria Type 7
Hepatic steatosis, Renal insufficiency, Cataract, Pneumothorax, Renal cyst, Nephrocalcinosis, Car... ORPHA:445038
Doors Syndrome
Respiratory distress, Adrenal hyperplasia, Low anterior hairline, Brachycephaly, Nephrocalcinosis... ORPHA:79500
Intellectual Developmental Disorder, Autosomal Dominant 21
Atrial septal defect, Patent ductus arteriosus, Coarctation of aorta OMIM:615502
Momo Syndrome
Delayed eruption of teeth, Frontal bossing, Dental malocclusion, Brachycephaly, Obesity, Taurodon... OMIM:157980
Cantu Syndrome
Bicuspid aortic valve, Curly eyelashes, Large for gestational age, Pericardial effusion, Cardiome... OMIM:239850
Neurofaciodigitorenal Syndrome
Mandibular prognathia, Hypoplasia of the premaxilla, Unilateral renal agenesis, Corneal dystrophy... ORPHA:2673
Dysostosis, Stanescu Type
Abnormal dental enamel morphology, Hypoplasia of the maxilla, Carious teeth, Brachycephaly, Macro... ORPHA:1798
Transketolase Deficiency
Increased level of ribose in urine, Hepatomegaly, Cataract, Ventricular septal defect, Abnormal r... ORPHA:488618
Refsum Disease, Classic
Cataract, Ataxia, Cardiomegaly, Cardiomyopathy, Abnormal renal physiology OMIM:266500
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Generalized-onset seizure, Ataxia, Bilateral tonic-clonic seizure with focal onset... OMIM:610042
Ogden Syndrome
Generalized-onset seizure, Bicuspid aortic valve, Apnea, Maternal diabetes, Cardiomegaly, Secundu... OMIM:300855
Acromelic Frontonasal Dysostosis
Tubulonodular pericallosal lipoma, Optic nerve hypoplasia, Parietal foramina, Cryptorchidism, Bra... OMIM:603671
Shprintzen-Goldberg Craniosynostosis Syndrome
Frontal bossing, Inguinal hernia, Craniosynostosis, Micrognathia, Hypoplasia of the maxilla, Cryp... OMIM:182212
Down Syndrome
Ventricular septal defect, Aganglionic megacolon, Protruding tongue, Brushfield spots, Complete a... OMIM:190685
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Ventricular tachycardia, Seizure, Macrovesicu... OMIM:600649
Phosphoribosylaminoimidazole Carboxylase Deficiency
Bilateral cryptorchidism, Coronal hypospadias, Esophageal atresia, Brachycephaly, Tracheoesophage... OMIM:619859
Zollinger-Ellison Syndrome
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Multiple lipomas, Elevated circulating... ORPHA:913
X-Linked Intellectual Disability, Snyder Type
Mandibular prognathia, Hypospadias, Ectopic kidney, Sparse eyebrow, Cryptorchidism, Synophrys, Un... ORPHA:3063
Menkes Disease
Gastrointestinal hemorrhage, Venous insufficiency, Arterial stenosis, Intracranial hemorrhage, Sp... ORPHA:565
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Microretrognathia, Inguinal hernia, Flat occiput, Small for gestational age, Hypospadias, Ataxia,... OMIM:614052
Rothmund-Thomson Syndrome, Type 2
Mandibular prognathia, Micrognathia, Squamous cell carcinoma, Premature graying of hair, Microcor... OMIM:268400
Proteasome-Associated Autoinflammatory Syndrome 1
Cardiomegaly, Microcytic anemia, Adipose tissue loss, Elevated circulating thyroid-stimulating ho... OMIM:256040
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Delayed eruption of teeth, Noncompaction cardiomyopathy, Cataract, Tricuspid regurgitation, Myelo... ORPHA:508542
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment
Increased nuchal translucency, Fetal intraventricular hemorrhage, Oligohydramnios OMIM:618480
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Frontal bossing, Hyperactivity, Macroorchidism, Ventricular septal defect, Aggressive behavior, M... OMIM:309520
Saethre-Chotzen Syndrome
Abnormal hair pattern, Craniosynostosis, Hypoplasia of the maxilla, Cryptorchidism, Low anterior ... ORPHA:794
Frontonasal Dysplasia 3
Absent eyebrow, Sparse eyelashes, Brachycephaly, Cleft palate OMIM:613456
Congenital Tracheomalacia
Apnea, Cardiomegaly, Tracheobronchomalacia, Cough, Atrial septal defect, Emphysema, Single ventri... ORPHA:95430
Glass Syndrome
Restlessness, Hyperactivity, Broad-based gait, Frontal bossing, Bilateral tonic-clonic seizure, A... OMIM:612313
Nephronophthisis 4
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... OMIM:606966
Wiedemann-Rautenstrauch Syndrome
Micrognathia, Secundum atrial septal defect, Flexion contracture, Brachycephaly, Hypoplasia of th... OMIM:264090
Marburg Hemorrhagic Fever
Abnormal bleeding, Shock, Tachycardia, Pericarditis, Excessive bleeding after a venipuncture, Hyp... ORPHA:99826
Donnai-Barrow Syndrome
Omphalocele, Cataract, Ventricular septal defect, Proteinuria, Congenital diaphragmatic hernia, I... OMIM:222448
Mosaic Variegated Aneuploidy Syndrome
Apnea, Micrognathia, Abnormality of skin pigmentation, Neoplasm, Atrial septal defect, Stomach ca... ORPHA:1052
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran... OMIM:217095
Frontofacionasal Dysplasia
Frontal cutaneous lipoma, Cataract, Brachycephaly, Microcornea, Bifid uvula, Absent inner eyelash... OMIM:229400
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Mandibular prognathia, Frontal bossing, Camptodactyly of finger, Supernumerary nipple, Brachyceph... ORPHA:1236
Attrv122I Amyloidosis
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Abnormal enteric nervous sys... ORPHA:85451
Joubert Syndrome 5
Central apnea, Ataxia, Episodic tachypnea, Aggressive behavior, Impaired renal concentrating abil... OMIM:610188
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Brain neoplasm, Anorexia, Precocious puberty, Jaundice, Spinal cord tum... ORPHA:370348
47,Xyy Syndrome
Hyperactivity, Hypospadias, Impulsivity, Cryptorchidism, Increased circulating gonadotropin level... ORPHA:8
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Bicuspid aortic valve, Clonic seizure, Synophrys, High, narrow palate, Abnormality of skin pigmen... OMIM:619475
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Thickened calvaria, Frontal bossing, Ventricular septal defect, Left ventricular noncompaction ca... OMIM:300967
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Severe B lymphocytopenia, Micrognathia, Biliary hyperplasia, Coarse hair, Micropenis, Pancreatic ... ORPHA:83617
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Brachycephaly, Microcornea, High palate, Atrial septal defect, Abnormal anterior chamber morpholo... OMIM:601776
Nijmegen Breakage Syndrome
Conjunctival telangiectasia, Sinusitis, Micrognathia, Progressive vitiligo, T lymphocytopenia, Hy... OMIM:251260
Eisenmenger Syndrome
Ventricular tachycardia, Pedal edema, Aortopulmonary window, Bacterial endocarditis, Supraventric... ORPHA:97214
Classic Homocystinuria
Gastrointestinal hemorrhage, Pulmonary embolism, Intracranial hemorrhage, Hypertension, Cerebral ... ORPHA:394
Cockayne Syndrome Type 1
Mandibular prognathia, Conjunctivitis, Male hypogonadism, Hypoplasia of the primary teeth, Hepato... ORPHA:90321
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Mandibular prognathia, Broad-based gait, Sparse eyebrow, Cryptorchidism, Synophrys, High, narrow ... OMIM:309583
Cockayne Syndrome A
Mandibular prognathia, Dry hair, Abnormal peripheral myelination, Abnormality of skin pigmentatio... OMIM:216400
Viss Syndrome
Chronic gastritis, Epidural hemorrhage, Micrognathia, High, narrow palate, Brachycephaly, Right v... OMIM:619472
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal... OMIM:306955
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Ventricular septal defect, Patent ductus arteriosus, Heart murmur, Intracranial hemorrhage, Inter... ORPHA:163979
Liver Disease, Severe Congenital
Chronic gastritis, Dry hair, Cardiomegaly, Biliary hyperplasia, Micrognathia, Abnormal left ventr... OMIM:619991
Distal Deletion 3P
Inguinal hernia, Micrognathia, Cryptorchidism, Brachycephaly, Cleft palate, Seizure, High palate,... ORPHA:1620
Chromosome 17P13.1 Deletion Syndrome
Turricephaly, Highly arched eyebrow, High, narrow palate, Synophrys, Low anterior hairline, Brach... OMIM:613776
Incontinentia Pigmenti
Hyperhidrosis, Abnormality of skin pigmentation, Alopecia, Abnormal dental enamel morphology, Sei... ORPHA:464
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Hepatic steatosis, Alopecia, Abnormal response to corticotropin... ORPHA:189427
Methimazole Embryofetopathy
Ventricular septal defect, Polyhydramnios, Coarctation of aorta, Abnormal aortic morphology, Intr... ORPHA:1923
Peters Plus Syndrome
Ureteral duplication, Micrognathia, Bicuspid pulmonary valve, Brachycephaly, Microcornea, Iris co... ORPHA:709
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Respiratory distress, Brachycephaly, Neoplasm, High palate, Atrial septal defect, Cyst of the duc... ORPHA:480880
Nephronophthisis 3
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... OMIM:604387
1Q21.1 Microdeletion Syndrome
Frontal bossing, Inguinal hernia, Cataract, Cryptorchidism, Patent ductus arteriosus, Abnormal ca... ORPHA:250989
Elsahy-Waters Syndrome
Mandibular prognathia, Bilateral cryptorchidism, Hypoplasia of the maxilla, Synophrys, Brachyceph... OMIM:211380
Monosomy 9Q22.3
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Ovarian fibroma, Hyperactivity, Ca... ORPHA:77301
Encephalitis Lethargica
Bradycardia ORPHA:83600
Beckwith-Wiedemann Syndrome
Omphalocele, Hepatomegaly, Adrenocortical cytomegaly, Hepatoblastoma, Cardiomegaly, Cryptorchidis... OMIM:130650
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Limb ataxia, Truncal ataxia, Pulm... OMIM:619051
Li-Fraumeni Syndrome
Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ... OMIM:151623
Mucopolysaccharidosis, Type Iiid
Synophrys, Coarse hair, Oppositional defiant disorder, Hepatomegaly, Hyperactivity, Seizure, Hirs... OMIM:252940
Renpenning Syndrome 1
Mandibular prognathia, Brittle hair, Hypospadias, Ventricular septal defect, Cataract, Phimosis, ... OMIM:309500
Ring Chromosome 7 Syndrome
Mandibular prognathia, Hypospadias, Highly arched eyebrow, Situs inversus totalis, Low anterior h... ORPHA:1449
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Hyposegmentation of neutrophil nuclei, Brachycephaly, Fine hair, Hypoplasia of the zygomatic bone... OMIM:614800
3-Methylglutaconic Aciduria, Type Viii
Neonatal death, Patent ductus arteriosus, Bradycardia OMIM:617248
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... ORPHA:75565
Vipoma
Anorexia, Hepatomegaly, Follicular thyroid carcinoma, Intermittent jaundice, Hematochezia, Neopla... ORPHA:97282
Transaldolase Deficiency
Ventricular septal defect, Patent ductus arteriosus, Telangiectasia, Coarctation of aorta, Atrial... OMIM:606003
Proximal Spinal Muscular Atrophy
Atrial septal defect, Bradycardia ORPHA:70
Mucopolysaccharidosis Type 2
Abnormal tricuspid valve morphology, Abnormal repetitive mannerisms, Oppositional defiant disorde... ORPHA:580
Branchioskeletogenital Syndrome
Thickened calvaria, Mandibular prognathia, Ureteral stenosis, Absent nipple, Unilateral cleft pal... ORPHA:1299
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Hyperactivity, Small for gestational age, Hypospadias, Craniosynostosis, Micrognathia, Cryptorchi... OMIM:309590
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Tachycardia, Syncope, Premature ventricular contraction OMIM:192445
22Q11.2 Deletion Syndrome
Impaired T cell function, Micrognathia, Hypoplasia of the thymus, Vesicoureteral reflux, Atrial s... ORPHA:567
Autosomal Dominant Coarctation Of Aorta
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... ORPHA:1455
Pearson Syndrome
Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Neut... ORPHA:699
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Decreased response to growth hormone stimulation test, Premature thelarche, Gliosis, Micropenis, ... ORPHA:268261
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Alopecia, Cataract, Hyperpigmentation of the skin, Cachexia, Anorexia, Malabsorption, Xerostomia,... OMIM:175500
Mitochondrial Complex I Deficiency, Nuclear Type 36
Optic disc pallor, Perimembranous ventricular septal defect, Seizure, Cardiomegaly OMIM:619170
Isolated Thyroid-Stimulating Hormone Deficiency
Facial edema, Umbilical hernia, Bradycardia ORPHA:90674
Fabry Disease
Conjunctival telangiectasia, Bundle branch block, Corneal dystrophy, Anorexia, Atrioventricular b... ORPHA:324
Right Atrial Isomerism
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri... OMIM:208530
Chromosome 15Q25 Deletion Syndrome
Hyperactivity, Macrocytic anemia, Ventricular septal defect, Dextrocardia, Flat occiput, Congenit... OMIM:614294
Familial Isolated Hypoparathyroidism
Hypoparathyroidism, Delayed eruption of teeth, Cataract, Abnormal dental enamel morphology, Nephr... ORPHA:2238
Helsmoortel-Van Der Aa Syndrome
Decreased response to growth hormone stimulation test, High, narrow palate, Pineal cyst, Enuresis... OMIM:615873
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Tricuspid regurgitation, Ventricular septal defect, Pancreatic fibrosis, Hamartoma of tongue, Int... OMIM:263520
Carney Complex
Neoplasm of the stomach, Hepatocellular carcinoma, Increased body weight, Thyroid carcinoma, Papi... ORPHA:1359
Pheochromocytoma/Paraganglioma Syndrome 6
Elevated circulating catecholamine level, Hypertension, Paraganglioma OMIM:618464
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Frontal bossing, Optic nerve hypoplasia, Abnormal hair morphology, High, narrow palate, Cleft pal... OMIM:607597
Oculocerebrorenal Syndrome Of Lowe
Mandibular prognathia, Hyperparathyroidism, Flat occiput, Micrognathia, Abnormal pupil morphology... ORPHA:534
Sandhoff Disease
Hepatomegaly, Orthostatic hypotension, Ataxia, Urinary incontinence, Bilateral tonic-clonic seizu... OMIM:268800
Dyskeratosis Congenita, X-Linked
Oropharyngeal squamous cell carcinoma, Reticulated skin pigmentation, Hyperhidrosis, Premature gr... OMIM:305000
Loeys-Dietz Syndrome 3
Tortuous cerebral arteries, Bicuspid aortic valve, Atrial septal defect, Abdominal aortic aneurys... OMIM:613795
Hyperaldosteronism, Familial, Type Iii
Adrenal hyperplasia, Polyuria, Hypercalciuria, Hyperaldosteronism, Polydipsia OMIM:613677
Roberts Syndrome
Cataract, Progressive flexion contractures, Craniosynostosis, Micrognathia, Cryptorchidism, Long ... ORPHA:3103
Parathyroid Carcinoma
Abnormal parathyroid morphology, Renal cyst, Nephrocalcinosis, Elevated circulating parathyroid h... ORPHA:143
Intellectual Developmental Disorder, Autosomal Dominant 54
Anhidrosis, Small for gestational age, Ataxia, Delayed eruption of primary teeth, Aggressive beha... OMIM:617799
Mandibuloacral Dysplasia Progeroid Syndrome
Hepatomegaly, Mitral valve calcification, Frontal bossing, Proteinuria, Elevated hemoglobin A1c, ... OMIM:619127
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Atrophic gastritis, Chronic active hepatitis, Asplenia, Nephrocalcinosis, Male hypogonadism, Hypo... OMIM:240300
Aica-Ribosiduria
Seizure, Brachycephaly ORPHA:250977
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Ureteral duplication, Cholangitis, Micrognathia, Renal cyst, Hepatic fibrosis, High palate, Nephr... OMIM:266920
Insulin-Like Growth Factor I Deficiency
Hyperactivity, Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone ... OMIM:608747
Achondrogenesis, Type Ii
Microretrognathia, Frontal bossing, Brachycephaly, Cleft palate, Stillbirth OMIM:200610
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Large for gestational age, High palate, Sparse hair, Atrial septal defect, Hyperactivity, Cryptor... OMIM:607721
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Hepatomegaly, Respiratory failure requiring assisted ventilation, Cardiomeg... ORPHA:308552
Xeroderma Pigmentosum
Conjunctival telangiectasia, Aminoaciduria, Neoplasm, Papilloma, Pterygium, Alopecia, Ataxia, Hyp... ORPHA:910
Idiopathic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton... ORPHA:567548
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Decreased serum insulin-like growth factor 1, Tachycardia, Ventricular septal defec... OMIM:614921
Arterial Tortuosity Syndrome
Aortic regurgitation, Ventricular hypertrophy, Carotid artery dissection, Pulmonary artery stenos... OMIM:208050
Fanconi Anemia
Micrognathia, Abnormality of skin pigmentation, Leukopenia, Abnormality of the liver, Neoplasm, H... ORPHA:84
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Ventricular septal defect, Polyhydramnios, Hydrops fetalis, Abnormal aortic morphology, Abnormal ... ORPHA:3405
Diabetic Embryopathy
Ventricular septal defect, Tetralogy of Fallot, Spinal dysraphism, Abnormal aortic morphology, Tr... ORPHA:1926
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... OMIM:620066
Leiomyomatosis, Diffuse, With Alport Syndrome
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Failure to thrive, Ca... OMIM:308940
Hunter-Macdonald Syndrome
Aortic regurgitation, Inguinal hernia, Bicuspid aortic valve, Hypospadias, Patent ductus arterios... OMIM:611962
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Ectopic kidney, Rectal prolapse, Conical incisor, Protein-losing enteropathy, Vesicoureteral refl... OMIM:235510
Cerebrofaciothoracic Dysplasia
Abnormal hair pattern, Synophrys, Brachycephaly, Cleft palate, Low posterior hairline, Coarse hai... ORPHA:1394
Gracile Bone Dysplasia
Asplenia, Hydrocephalus, Failure to thrive, Hypoplastic spleen OMIM:602361
Ppoma
Anorexia, Hepatomegaly, Intermittent jaundice, Increased circulating cortisol level, Adrenocortic... ORPHA:97278
Trisomy 9P
Abnormal pupil morphology, Brachycephaly, Impacted tooth ORPHA:236
Zttk Syndrome
Absent gallbladder, Curly hair, Frontal bossing, Ventricular septal defect, Polyuria, Unilateral ... OMIM:617140
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Epistaxis, Cerebral arteriovenous malformation, Pulmonary arteriovenous malformation, Mitral valv... OMIM:175050
Proteus Syndrome
Central heterochromia, Pulmonary embolism, Neoplasm of the thymus, Renal cyst, Neoplasm of the ce... ORPHA:744
Aicardi-Goutières Syndrome
Enchondroma, Diabetes mellitus, Multiple joint contractures, Lipoatrophy, Cardiomegaly, Neonatal ... ORPHA:51
Familial Adenomatous Polyposis
Duodenal polyposis, Astrocytoma, Brain neoplasm, Soft tissue neoplasm, Angiofibromas, Multiple ga... ORPHA:733
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Frontal bossing, Focal-onset seizure, Typical absence seizure, Optic disc coloboma, Rectal prolap... OMIM:617157
Williams Syndrome
Hypoplasia of penis, Bicuspid aortic valve, Cardiomegaly, Micrognathia, Rectal prolapse, Abnormal... ORPHA:904
Meacham Syndrome
Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Partial... OMIM:608978
Helix Syndrome
Anhidrosis, Renal insufficiency, Hyperparathyroidism, Polyuria, Xerostomia, Nephrolithiasis, Hypo... OMIM:617671
Monosomy 9P
Hypospadias, Highly arched eyebrow, Micrognathia, Congenital diaphragmatic hernia, Cryptorchidism... ORPHA:261112
Dahlberg-Borer-Newcomer Syndrome
Hypoparathyroidism, Renal insufficiency, Cataract, Mitral valve prolapse, Hypohidrosis, Nephropat... ORPHA:1563
Dyrk1A-Related Intellectual Disability Syndrome
Multiple joint contractures, Anterior pituitary hypoplasia, Renal cyst, Micropenis, Pelvic kidney... ORPHA:464306
Humeroradial Synostosis
Renal insufficiency, Brachycephaly OMIM:236400
Sickle Cell Disease
Hepatomegaly, Renal insufficiency, Hemolytic anemia, Cardiomegaly, Splenomegaly, Leukocytosis, Sp... OMIM:603903
Meningioma
Syncope, Cerebral hemorrhage ORPHA:2495
Baller-Gerold Syndrome
Micrognathia, Brachycephaly, Anteriorly placed anus, High palate, Midface capillary hemangioma, B... OMIM:218600
Lymphedema-Hypoparathyroidism Syndrome
Hypoparathyroidism, Renal insufficiency, Cataract, Mitral valve prolapse, Nephropathy, Hypertrich... OMIM:247410
Primrose Syndrome
Bilateral cryptorchidism, Hypoplasia of the maxilla, Synophrys, Flexion contracture, Brachycephal... OMIM:259050
Senior-Loken Syndrome 1
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... OMIM:266900
Specc1L-Related Hypertelorism Syndrome
Omphalocele, Ventricular septal defect, Highly arched eyebrow, Ectopic kidney, Cryptorchidism, Wi... ORPHA:1519
Hereditary Breast And/Or Ovarian Cancer Syndrome
Neoplasm of the pancreas, Breast carcinoma, Ovarian neoplasm, Melanoma, Prostate cancer ORPHA:145
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Patent ductus arteriosus, Abnormal aortic morphology, Hypoplastic left heart ORPHA:2001
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
High palate, Ventricular septal defect, Brachycephaly, Dextrotransposition of the great arteries OMIM:619995
Noonan Syndrome 9
Prolonged prothrombin time, Ventricular septal defect, Pulmonic stenosis, Coarctation of aorta OMIM:616559
Coffin-Siris Syndrome
Low anterior hairline, Papillary thyroid carcinoma, Aspiration pneumonia, Hernia, Hepatoblastoma,... ORPHA:1465
Pulmonary Capillary Hemangiomatosis
Pulmonary edema, Diffuse alveolar hemorrhage, Pericardial effusion, Right ventricular failure, Pe... ORPHA:199241
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Cardiomegaly, Flexion contracture, Oligosacchariduria, Hepatomegaly, Vascul... ORPHA:365
Gitelman Syndrome
Respiratory distress, Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Hyper... ORPHA:358
Microphthalmia, Syndromic 9
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left atrium, Coarctation of aort... OMIM:601186
Isolated Right Ventricular Hypoplasia
Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa... ORPHA:439
Sheehan Syndrome
Palpitations, Orthostatic hypotension, Bradycardia ORPHA:91355
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Neonatal respiratory distress, Ventricular septal defect, Neonatal insulin-dependen... ORPHA:96191
Homozygous Familial Hypercholesterolemia
Premature arteriosclerosis, Angina pectoris, Sudden cardiac death, Myocardial infarction, Precoci... ORPHA:391665
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Ataxia, Cardiomegaly, Congestive heart failure, Unsteady gait, Optic atrophy, Limb ataxia, Gait a... OMIM:619259
Faciodigitogenital Syndrome, Autosomal Recessive
Inguinal hernia, Cryptorchidism, Widow's peak, Trismus, Dental malocclusion, Brachycephaly, Narro... OMIM:227330
Giant Cell Arteritis
Pericarditis, Epistaxis, Sudden cardiac death, Vasculitis, Cerebral ischemia, Aortic dissection, ... ORPHA:397
Somatostatinoma
Anorexia, Hepatomegaly, Intermittent jaundice, Increased circulating cortisol level, Adrenocortic... ORPHA:97283
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm OMIM:617349
Greenberg Dysplasia
Rhizomelia, Nonimmune hydrops fetalis, Polyhydramnios, Echogenic fetal bowel, Large placenta, Inc... OMIM:215140
Abetalipoproteinemia
Cardiomegaly, Dysmetria, Gait ataxia, Steppage gait, Hepatic fibrosis, Hepatic steatosis, Hypothy... ORPHA:14
Cockayne Syndrome
Dry hair, Urinary incontinence, Progressive gait ataxia, Lentiglobus, Gliosis, Congenital contrac... ORPHA:191
Lipodystrophy, Familial Partial, Type 7
Loss of subcutaneous adipose tissue in limbs, Sparse scalp hair, Reduced subcutaneous adipose tis... OMIM:606721
Arterial Tortuosity Syndrome
Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Congestive heart failure, Myoc... ORPHA:3342
Hyperparathyroidism-Jaw Tumor Syndrome
Abnormal parathyroid morphology, Renal cyst, Nephrocalcinosis, Elevated circulating parathyroid h... ORPHA:99880
Bifid Nose With Or Without Anorectal And Renal Anomalies
Renal agenesis, Unilateral renal agenesis, Ebstein anomaly of the tricuspid valve, Brachycephaly,... OMIM:608980
Mend Syndrome
Microretrognathia, Hyperactivity, Crossed fused renal ectopia, Cataract, Micrognathia, Cryptorchi... OMIM:300960
Apc-Related Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Astrocytoma, Multiple gastric polyps, Papillary thyroid carcinoma, Fibrosarco... ORPHA:247806
Goodpasture Syndrome
Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Crackles, Cough, Increased DLC... OMIM:233450
Igg4-Related Aortitis
Thoracic aortic aneurysm, Abnormal aortic arch morphology, Ascending tubular aorta aneurysm, Dila... ORPHA:449400
Kbg Syndrome
Cryptorchidism, Synophrys, Epispadias, Low anterior hairline, Brachycephaly, Low posterior hairli... OMIM:148050
Cerebellar-Facial-Dental Syndrome
Inguinal hernia, Cataract, Ventricular septal defect, Foot joint contracture, Micrognathia, Spars... ORPHA:444072
Mesomelic Dysplasia, Nievergelt Type
Camptodactyly of finger, Brachycephaly, Dolichocephaly ORPHA:2633
Trichohepatoenteric Syndrome 1
Short stature, Polyhydramnios, Large placenta, Abnormalities of placenta or umbilical cord, Intra... OMIM:222470
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Neonatal respiratory distress, Cardiome... ORPHA:228308
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... OMIM:617300
Heterotaxy, Visceral, 5, Autosomal
Atrial reentry tachycardia, Right atrial isomerism, Ventricular septal defect, Dextrocardia, Pate... OMIM:270100
Naxos Disease
Prolonged QRS complex, Cardiomegaly, Sudden cardiac death, Sparse eyebrow, Dilated cardiomyopathy... OMIM:601214
Aortic Aneurysm, Familial Thoracic 10
Aortic arch aneurysm, Bicuspid aortic valve, Thoracic aortic aneurysm, Fusiform ascending tubular... OMIM:617168
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Bicuspid aortic valve, Micrognathia, High palate, Compulsive behaviors, Vesicoureteral reflux, At... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Bicuspid aortic valve, Micrognathia, High palate, Compulsive behaviors, Vesicoureteral reflux, At... ORPHA:353277
Sotos Syndrome
Ureteral duplication, Astrocytoma, No permanent dentition, Flexion contracture, Neoplasm, Vesicou... ORPHA:821
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Mitral atresia, Patent ductus arteriosus, Double outlet right ventricle, Supravalvar pulmonary st... OMIM:618164
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Cardiomegaly, Nephrotic syndrome, Cardiomyopathy, Astigmatism, Left ventricular hyp... OMIM:617713
Idiopathic Hypereosinophilic Syndrome
Transient ischemic attack, Supraventricular arrhythmia, Pulmonary embolism, Raynaud phenomenon, C... ORPHA:3260
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Spontaneous esophageal perforation, Alopecia, Cataract, Esophageal stricture, Flexion contracture... OMIM:226600
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Eunuchoid habitus, Cardiomegaly, Synophrys, Low posterior hairline, Abnormal thymus morphology, H... ORPHA:2463
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features
Frontal bossing, Supernumerary nipple, Highly arched eyebrow, Cryptorchidism, Synophrys, Brachyce... OMIM:616728
Pseudohypoparathyroidism Type 1A
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:79443
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Central apnea, Abnormal location of the eyebrow, Ataxia, Progressive flexion contractures, Repeti... ORPHA:522077
Distal Duplication 17Q
Accessory spleen, Frontal bossing, Hyperactivity, Micrognathia, Cryptorchidism, Cleft palate, Abn... ORPHA:3379
Hyperthyroidism, Nonautoimmune
Decreased thyroid-stimulating hormone level, Hyperactivity, Hyperthyroidism, Small for gestationa... OMIM:609152
Pfeiffer Syndrome Type 3
Respiratory distress, Intestinal malrotation, Tracheomalacia, Horseshoe kidney, Cleft palate, Sei... ORPHA:93260
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Polydipsia, Failure to thrive, Megacystis, Polyuria OMIM:125800
Mosaic Trisomy 16
Large placenta, Single umbilical artery, Premature birth, Intrauterine growth retardation ORPHA:1708
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Polydipsia, Failure to thrive, Megacystis, Polyuria OMIM:304800
Superficial Siderosis
Abnormal bleeding, Subarachnoid hemorrhage, Abnormal vertebral artery morphology, Arteriovenous m... ORPHA:247245
Amyloidosis, Hereditary, Transthyretin-Related
Peripheral axonal neuropathy, Ataxia, Urinary incontinence, Cardiomegaly, Limb ataxia, Cardiomyop... OMIM:105210
Congenital Myopathy 13
Hypercapnia, Micrognathia, Cryptorchidism, Flexion contracture, Brachycephaly, Cleft palate, Hypo... OMIM:255995
Lethal Congenital Contracture Syndrome 10
Omphalocele, Overriding aorta, Ventricular septal defect, Micrognathia, Cardiomegaly, Narrow pala... OMIM:617022
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Patent ductus arteriosus, Abnormal ... ORPHA:2306
Kagami-Ogata Syndrome
Postnatal growth retardation, Large placenta, Premature birth, Polyhydramnios ORPHA:254519
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Abnormal bleeding, Congestive heart failure, Arterial rupture, Mitral valve prolapse, Aortic diss... ORPHA:1900
Gitelman Syndrome
Salt craving, Ataxia, Polyuria, Renal magnesium wasting, Enuresis, Chondrocalcinosis, Hypocalciur... OMIM:263800
Ayme-Gripp Syndrome
Mandibular prognathia, Sparse scalp hair, Pericarditis, Brachycephaly, Developmental cataract, Se... OMIM:601088
Septopreoptic Holoprosencephaly
Ethmoidal encephalocele, Coarctation of aorta ORPHA:280195
Achard Syndrome
Broad skull, Brachycephaly, Micrognathia OMIM:100700
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Salt craving, Ataxia, Polyuria, Renal salt wasting, Enuresis, Dysdiadochokinesis, Hyperaldosteron... OMIM:612780
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Dilation of Virchow-Robin spaces, Cerebral hemorrhage, Retinal arteriolar tortuosity, Retinal hem... OMIM:175780
Combined Oxidative Phosphorylation Deficiency 39
Intrauterine growth retardation, Sinus bradycardia OMIM:618397
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly, Renal tubular acidosis, Seizure, Arrhythmia, H... OMIM:255120
Noonan Syndrome 10
Ventricular septal defect, Increased nuchal translucency, Patent ductus arteriosus, Mitral valve ... OMIM:616564
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Ventricular septal defect, Increased nuchal translucency, Abnormal heart morphology, Coarctation ... OMIM:618494
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Ventricular septal defect, Coarctation of aorta OMIM:620210
Craniosynostosis And Dental Anomalies
Mandibular prognathia, Flat occiput, Hypoplasia of the maxilla, Brachycephaly, High palate, Papil... OMIM:614188
Zimmermann-Laband Syndrome 1
Mandibular prognathia, Hepatomegaly, Thick eyebrow, Delayed eruption of teeth, Cataract, Thick ha... OMIM:135500
Abnormal Hair, Joint Laxity, And Developmental Delay
Mitral regurgitation, Tricuspid regurgitation, Sinus bradycardia OMIM:261990
Bartter Syndrome, Type 2, Antenatal
Hyperchloriduria, Frontal bossing, Small for gestational age, Polyuria, Renal salt wasting, Incre... OMIM:241200
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Pulmonary embolism, Dilated cardiomyopathy, Subdural hemorrhage, Hydrops fetalis, Dehydration, Ab... ORPHA:79282
Microphthalmia, Syndromic 6
Failure to thrive, Female hypogonadism, Adrenal hypoplasia, Micrognathia, Sclerocornea, Cryptorch... OMIM:607932
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta OMIM:212090
Middle Ear Neuroendocrine Tumor
Facial palsy, Chronic noninfectious lymphadenopathy, Neuroendocrine neoplasm, Carcinoid tumor ORPHA:100084
Roberts-Sc Phocomelia Syndrome
Micrognathia, Brachycephaly, Knee flexion contracture, High palate, Midface capillary hemangioma,... OMIM:268300
Pagod Syndrome
Encephalocele, Sudden cardiac death, Spina bifida, Situs inversus totalis, Meningocele, Pulmonary... ORPHA:991
Glutaryl-Coa Dehydrogenase Deficiency
Subdural hemorrhage, Retinal hemorrhage ORPHA:25
Dubowitz Syndrome
Aplastic anemia, Micrognathia, Hypoplasia of the iris, High palate, Megalocornea, Decreased circu... OMIM:223370
Cerebrooculonasal Syndrome
Frontal bossing, Sparse eyelashes, Optic nerve hypoplasia, Proboscis, Craniosynostosis, Sparse ey... OMIM:605627
Cutaneous Neuroendocrine Carcinoma
Brain neoplasm, Lymphoid leukemia, Neoplasm of the outer ear, Chronic noninfectious lymphadenopat... ORPHA:79140
Acrofrontofacionasal Dysostosis 1
Mandibular prognathia, Iris atrophy, Long eyebrows, Widow's peak, Optic atrophy, Brachycephaly, C... OMIM:201180
Alport Syndrome 2, Autosomal Recessive
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Cataract, Corneal ero... OMIM:203780
Lethal Acantholytic Erosive Disorder
Absent eyebrow, Natal tooth, Cardiomegaly, Absent eyelashes, Cleft palate, Cardiomyopathy, Respir... ORPHA:158687
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Decreased circulating cortisol level, Brachycephaly, Anteriorly placed anus, Micropenis, Decrease... OMIM:201750
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... OMIM:619313
Noonan Syndrome 2
Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Polyhydramnios, Incr... OMIM:605275
Phaver Syndrome
Ventricular septal defect, Myelomeningocele, Hypoplastic aortic arch, Coarctation of aorta, Pulmo... ORPHA:2876
Hutchinson-Gilford Progeria Syndrome
Myocardial infarction, Intracranial hemorrhage, Abnormal mitral valve morphology, Raynaud phenome... ORPHA:740
Acute Liver Failure
Abnormal bleeding, Gastrointestinal hemorrhage, Shock, Hepatic necrosis, Hepatocellular necrosis,... ORPHA:90062
Saethre-Chotzen Syndrome
Parietal foramina, Hypoplasia of the maxilla, Oxycephaly, Low anterior hairline, Brachycephaly, B... OMIM:101400
Glucagonoma
Anorexia, Hepatomegaly, Acanthocytosis, Intermittent jaundice, Increased circulating cortisol lev... ORPHA:97280
Pfeiffer Syndrome Type 1
High palate, Brachycephaly, Bicoronal synostosis, Midface retrusion ORPHA:93258
Cockayne Syndrome Type 3
Dry hair, Flexion contracture, Premature graying of hair, Microcornea, Lentiglobus, Hepatomegaly,... ORPHA:90324
Meacham Syndrome
Ventricular septal defect, Situs inversus totalis, Patent ductus arteriosus, Anomalous pulmonary ... ORPHA:3097
Senior-Loken Syndrome 3
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisi... OMIM:606995
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Intracranial hemorrhage, Hypertension ORPHA:90795
Childhood Absence Epilepsy
Bilateral tonic-clonic seizure, Urinary incontinence, Typical absence seizure, Punding, Attention... ORPHA:64280
Diarrhea 10, Protein-Losing Enteropathy Type
Polyuria, Micrognathia, Pericardial effusion, Cryptorchidism, Decreased circulating antibody leve... OMIM:618183
Renal Nutcracker Syndrome
Orthostatic hypotension, Tachycardia, Vulval varicose vein, Varicose veins, Syncope, Renal artery... ORPHA:71273
Scalp-Ear-Nipple Syndrome
Mandibular prognathia, Anisocoria, Multiple lipomas, Sparse hair, Bifid uvula, Iris coloboma, Ren... OMIM:181270
Hypermethioninemia Due To Adenosine Kinase Deficiency
Secundum atrial septal defect, Prolonged prothrombin time, Pulmonic stenosis, Coarctation of aorta OMIM:614300
Holoprosencephaly-Craniosynostosis Syndrome
Plagiocephaly, Brachycephaly, Craniosynostosis ORPHA:2163
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity, Hyperthyroidism, Small for gestational age, Thyrotoxicosis with diffuse goiter, Ac... ORPHA:424
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Hyperparathyroidism, Small for gestational age, Polyuria, Renal salt wasting, I... OMIM:601678
Multiple Endocrine Neoplasia, Type Iv
Hyperparathyroidism, Elevated circulating growth hormone concentration, Carcinoid tumor, Pancreat... OMIM:610755
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta OMIM:107550
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Nephrocalcinosis, Dilated cardiomyopathy, Polyuria OMIM:620152
Phace Association
Anomalous branches of internal carotid artery, Ventricular septal defect, Patent ductus arteriosu... OMIM:606519
14Q22Q23 Microdeletion Syndrome
Anterior pituitary hypoplasia, Adrenal hypoplasia, Micrognathia, Cryptorchidism, Renal hypoplasia... ORPHA:264200
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... ORPHA:99125
Arterial Calcification, Generalized, Of Infancy, 2
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Nephrocal... OMIM:614473
Pfeiffer Syndrome
Mandibular prognathia, Cloverleaf skull, Hypoplasia of the maxilla, High palate, Coronal craniosy... OMIM:101600
Aspartylglucosaminuria
Hepatomegaly, Aspartylglucosaminuria, Cataract, Vacuolated lymphocytes, Brachycephaly, Seizure, M... OMIM:208400
Heterotaxy, Visceral, 8, Autosomal
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... OMIM:617205
Myhre Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Sparse hair, Atrial septal defect, Ataxia, Peri... OMIM:139210
Alagille Syndrome 1
Multiple small medullary renal cysts, Microcornea, Atrial septal defect, Vesicoureteral reflux, A... OMIM:118450
Sarcoidosis
Heart block, Increased T cell count, Ventricular tachycardia, Nephrocalcinosis, Tubulointerstitia... ORPHA:797
Incontinentia Pigmenti
Delayed eruption of teeth, Alopecia, Cataract, Eosinophilia, Supernumerary nipple, Scarring, Kera... OMIM:308300
Cardiac-Urogenital Syndrome
Prolonged bleeding time, Tachycardia, Cor triatrium sinister, Ventricular septal defect, Dextroca... OMIM:618280
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant
Intrauterine growth retardation, Subdural hemorrhage OMIM:619714
Danon Disease
Myocardial necrosis, Wolff-Parkinson-White syndrome, Cardiomegaly, Congestive heart failure, Dila... OMIM:300257
Loeys-Dietz Syndrome
Abnormal bleeding, Cardiac arrest, Arterial tortuosity, Patent ductus arteriosus, Aortic dissecti... ORPHA:60030
Early Infantile Epileptic Encephalopathy
Choreoathetosis, Ureterocele, Micropenis, Hyperactivity, Precocious puberty, Seizure, Myoclonus, ... ORPHA:1934
Amelogenesis Imperfecta, Type Ig
Renal insufficiency, Polyuria, Impaired renal concentrating ability, Dagger-shaped pulp calcifica... OMIM:204690
Myofibrillar Myopathy 11
Coarctation of aorta OMIM:619178
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Decreased serum insulin-like growth factor 1, Hyperactivity, Elevated circulating growth hormone ... ORPHA:85327
Cantú Syndrome
Abnormal heart valve morphology, Curly eyelashes, Cardiomegaly, Patent ductus arteriosus, Low ant... ORPHA:1517
Yunis-Varon Syndrome
Sclerocornea, Cardiomegaly, Abnormal occipital bone morphology, Micrognathia, High, narrow palate... ORPHA:3472
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Facial edema, Umbilical hernia, Bradycardia ORPHA:226307
Restrictive Dermopathy 1
Spontaneous chorioamniotic separation, Decreased fetal movement, Premature birth, Polyhydramnios,... OMIM:275210
Hypothyroidism, Congenital, Nongoitrous, 2
Umbilical hernia, Bradycardia OMIM:218700
Progressive Non-Infectious Anterior Vertebral Fusion
Micrognathia, Brachycephaly, Abdominal situs inversus, Exostoses ORPHA:2062
Knobloch Syndrome
Cataract, Dextrocardia, Ectopia lentis, Abnormal hair morphology, Calvarial skull defect, Patent ... ORPHA:1571
Behçet Disease
Anorexia, Pulmonary embolism, Myocardial infarction, Ataxia, Vasculitis, Lymphadenopathy, Seizure... ORPHA:117
Osteogenesis Imperfecta, Type Xi
Dentinogenesis imperfecta, Brachycephaly OMIM:610968
Pancreatic Cancer
Neoplasm of the pancreas, Increased level of L-fucose in urine OMIM:260350
Malignant Migrating Focal Seizures Of Infancy
Aortopulmonary collateral arteries ORPHA:293181
Medulloblastoma
Cerebellar hemorrhage ORPHA:616
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Pancytopenia, Cardiomegaly, Splenomegaly, Aortic valve ... OMIM:231005
Autoimmune Polyendocrine Syndrome, Type Ii
Alopecia, Hyperthyroidism, Cataract, Band keratopathy, Asplenia, Primary adrenal insufficiency, H... OMIM:269200
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Atrioventricular canal defect, Tricuspid regurgitation, Dextrocardia, Coarctation of aorta OMIM:618929
Isolated Permanent Neonatal Diabetes Mellitus
Failure to thrive, Ketonuria, Ataxia, Neonatal insulin-dependent diabetes mellitus, Peripheral ax... ORPHA:99885
Right Pulmonary Artery, Anomalous Origin Of, Familial
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... OMIM:610338
Proximal Renal Tubular Acidosis
Hyperphosphaturia, Cataract, Band keratopathy, Malabsorption, Enamel hypomineralization, Bicarbon... ORPHA:47159
Loeys-Dietz Syndrome 4
Bicuspid aortic valve, Arterial tortuosity, Mitral valve prolapse, Ascending tubular aorta aneury... OMIM:614816
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... OMIM:618773
Cutis Laxa, Autosomal Recessive, Type Iid
Reduced subcutaneous adipose tissue, Inguinal hernia, Cataract, Hypoplastic right heart, Bilatera... OMIM:617403
Gcgr-Related Hyperglucagonemia
Neoplasm of the pancreas, Diabetes mellitus, Abnormal biliary tract morphology, Cholelithiasis, I... ORPHA:438274
Aneurysm-Osteoarthritis Syndrome
Aortic regurgitation, Atrial fibrillation, Arterial dissection, Arterial tortuosity, Patent ductu... ORPHA:284984
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Hypermelanotic macule, Bile duct polyp, Rectal prolapse, Abnormality of... OMIM:175200
Neurodegeneration And Seizures Due To Copper Transport Defect
Respiratory distress, Tricuspid regurgitation, Cardiomegaly, Pneumothorax, Glandular hypospadias,... OMIM:620306
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Tricuspid regurgitation, Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Hyp... OMIM:617506
Familial Gestational Hyperthyroidism
Hyperactivity, Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulatin... ORPHA:99819
15Q11.2 Microdeletion Syndrome
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo... ORPHA:261183
Short Qt Syndrome 3
Shortened QT interval, Tachycardia, Palpitations OMIM:609622
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Delayed eruption of teeth, Cataract, Micrognathia, Cleft hard palate, Synophrys, Patent ductus ar... OMIM:300990
Acrocardiofacial Syndrome
Ventricular septal defect, Mitral stenosis, Coarctation of aorta, Atrial septal defect, Intrauter... ORPHA:2008
Teratoma, Pineal
Polydipsia, Polyuria OMIM:273120
Severe Generalized Junctional Epidermolysis Bullosa
Edema, Dilated cardiomyopathy, Renal tubular epithelial necrosis, Dehydration, Bradycardia ORPHA:79404
Autosomal Recessive Faciodigitogenital Syndrome
Frontal bossing, Dry hair, Hypopigmentation of hair, Micrognathia, Widow's peak, Brachycephaly, C... ORPHA:1974
Meckel Syndrome, Type 1
Occipital encephalocele, Breech presentation, Large placenta, Anencephaly, Single umbilical arter... OMIM:249000
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Anemia, Cardiomegaly OMIM:618838
Nelson Syndrome
Intracranial hemorrhage, Hypertension ORPHA:199244
Arachnoid Cyst
Encephalocele, Subarachnoid hemorrhage ORPHA:2356
Gallbladder Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Anorexia, Biliary tract neoplasm, Extrahepatic cholestasis... ORPHA:100086
Pituitary Deficiency Due To Rathke Cleft Cysts
Intracranial hemorrhage ORPHA:91350
Mosaic Variegated Aneuploidy Syndrome 2
Aortic regurgitation, Ventricular septal defect, Coarctation of aorta, Severe intrauterine growth... OMIM:614114
Bartter Syndrome, Type 3
Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,... OMIM:607364
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Varicose veins, Pulmonic stenosis, Aortic dissection, Bruising susceptibility, Vascular dilatation OMIM:618343
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Abnormal EKG, Cardiomegaly, Inability to walk, Right bundle branch block, Pollakisuria, Tip-toe g... ORPHA:268
Sifrim-Hitz-Weiss Syndrome
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Atrial septal defect, ... OMIM:617159
Tetrasomy 9P
Micrognathia, Biliary atresia, Inappropriate behavior, High palate, Micropenis, Patent foramen ov... ORPHA:3310
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Renal malrotation, Multicystic kidney dysplasia, Transient neutropenia, Ventricular septal defect... ORPHA:500095
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Abnormal penis morphology, Flat occiput, Hypospadias, Epispadias, Brachycephaly ORPHA:2211
Dpagt1-Cdg
Intracranial hemorrhage, Anasarca, Prolonged QT interval, Stroke-like episode ORPHA:86309
Fanconi Anemia, Complementation Group B
Intrauterine growth retardation, Patent ductus arteriosus, Ventricular septal defect, Coarctation... OMIM:300514
Pterygium Colli-Intellectual Disability-Digital Anomalies Syndrome
Brachycephaly, Highly arched eyebrow ORPHA:2988
Choreoacanthocytosis
Compulsive behaviors, Loss of ambulation, Hepatomegaly, Self-mutilation of tongue and lips due to... ORPHA:2388
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Tricuspid regurgitation, Polyhydramnios, Patent ductus arteriosus, Aortic rupture, Mitral regurgi... OMIM:614557
Mucopolysaccharidosis Type 2, Severe Form
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Peripheral arterial stenosi... ORPHA:217085
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Complete atrioventricular canal defect, Coarctation of aorta, Subvalvular aortic stenosis OMIM:217085
Generalized Arterial Calcification Of Infancy
Medial calcification of large arteries, Polyhydramnios, Edema, Cardiomegaly, Abnormal retinal art... ORPHA:51608
Mucopolysaccharidosis Type 2, Attenuated Form
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Peripheral arterial stenosi... ORPHA:217093
Neurocardiofaciodigital Syndrome
Atrial septal defect, Failure to thrive, Cataract, Small for gestational age, Sclerocornea, Spars... OMIM:619869
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Ventricular septal defect, Secundum atrial septal defect, Coarctation of aorta, Perimembranous ve... OMIM:600987
Meckel Syndrome
Accessory spleen, Ureteral duplication, Multicystic kidney dysplasia, Cataract, Pancreatic fibros... ORPHA:564
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Premature birth, Short stature, Polyhydramnios, Postnatal growth retardation, Large placenta, Spi... ORPHA:96334
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Patent ductus arteriosus, Mitral stenosis, Coarctation of aorta OMIM:617260
Toriello-Carey Syndrome
Patent ductus arteriosus, Coarctation of aorta, Cardiomyopathy, Abnormal cardiac septum morpholog... ORPHA:3338
Galloway-Mowat Syndrome 3
Edema, Coarctation of aorta, Hypertension, Intrauterine growth retardation, Oligohydramnios OMIM:617729
Encephalocraniocutaneous Lipomatosis
Coarctation of aorta, Abnormal aortic morphology, Interrupted aortic arch, Tricuspid valve prolap... ORPHA:2396
Loeys-Dietz Syndrome 2
Aortic arch aneurysm, Bicuspid aortic valve, Arterial tortuosity, Descending thoracic aorta aneur... OMIM:610168
Alport Syndrome
Hypertension, Renal glomerular foam cells, Aortic aneurysm, Abnormal aortic morphology ORPHA:63
2Q37 Microdeletion Syndrome
Umbilical hernia, Abnormal aortic morphology ORPHA:1001
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Increased renal tubular phosphate reabsorption, Decreased renal tubular phosphate excretion, Conj... OMIM:211900
Kabuki Syndrome 2
Coarctation of aorta, Pulmonic stenosis, Atrial septal defect, Intrauterine growth retardation, A... OMIM:300867
Cardiofaciocutaneous Syndrome 1
Micrognathia, Hyperhidrosis, High palate, Sparse hair, Atrial septal defect, Absent eyebrow, Abse... OMIM:115150
Blau Syndrome
Clear cell renal cell carcinoma, Pericarditis, Cataract, Hyperpigmentation of the skin, Facial pa... ORPHA:90340
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Hereditary Sensory And Autonomic Neuropathy Type 4
Anhidrosis, Nail-biting, Hyperactivity, Fasciitis, Abscess, Impulsivity, Chronic kidney disease, ... ORPHA:642
Marfan Syndrome
Mitral valve calcification, Congestive heart failure, Descending aortic dissection, Meningocele, ... ORPHA:558
Developmental Delay With Or Without Dysmorphic Facies And Autism
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Umbilical hernia, Pulm... OMIM:618454
Lowry-Maclean Syndrome
Intrauterine growth retardation, Atrioventricular canal defect, Coarctation of aorta ORPHA:2409
Diaphragmatic Hernia 4, With Cardiovascular Defects
Ventricular septal defect, Aortopulmonary collateral arteries, Polyhydramnios, Aortopulmonary win... OMIM:620025
Mowat-Wilson Syndrome
Mandibular prognathia, Bicuspid aortic valve, Urinary incontinence, Asplenia, Cleft hard palate, ... ORPHA:2152
Holoprosencephaly
Encephalocele, Ventricular septal defect, Abnormal pulmonary valve morphology, Spinal dysraphism,... ORPHA:2162
Isolated Exencephaly
Anterior pituitary hypoplasia, Maternal diabetes, Abnormal calvaria morphology, Posterior pituita... ORPHA:563612
Fryns Syndrome
Polyhydramnios, Abnormal aortic arch morphology, Abnormal cardiac septum morphology, Abnormal aor... ORPHA:2059
Distal Deletion 15Q
Bicuspid aortic valve, Mitral atresia, Double outlet right ventricle with doubly committed ventri... ORPHA:1596
Pure Autonomic Failure
Dysuria, Anhidrosis, Abnormality of circulating catecholamine level, Urinary incontinence ORPHA:441
Carney-Stratakis Syndrome
Gastrointestinal hemorrhage, Intestinal obstruction, Gastrointestinal stroma tumor, Weight loss, ... ORPHA:97286
Congenital Heart Defects And Skeletal Malformations Syndrome
Ventricular septal defect, Coarctation of aorta, Aortic root aneurysm, Atrial septal defect, Intr... OMIM:617602
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Mandibular prognathia, Bicuspid aortic valve, Urinary incontinence, Asplenia, Cleft hard palate, ... ORPHA:261552
Pseudotrisomy 13 Syndrome
Encephalocele, Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, C... OMIM:264480
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Pericallosal lipoma, Cataract, Sparse eyelashes, Camptodactyly of finger, Sparse eyebrow, Hypopla... ORPHA:306542
Arterial Calcification, Generalized, Of Infancy, 1
Neonatal respiratory distress, Myocardial infarction, Cardiomegaly, Congestive heart failure, Dil... OMIM:208000
Alström Syndrome
Respiratory distress, Abnormality of dental color, Decreased response to growth hormone stimulati... ORPHA:64
Meester-Loeys Syndrome
Mitral valve prolapse, Ascending tubular aorta aneurysm, Dilatation of the cerebral artery, Aorti... OMIM:300989
Cancer-Associated Retinopathy
Neoplasm of the pancreas, Optic disc pallor, Pancreatic adenocarcinoma, Testicular neoplasm, Hema... ORPHA:71505
Bartter Syndrome, Type 5, Antenatal, Transient
Hypercalciuria, Medullary nephrocalcinosis, Polyuria OMIM:300971
Pallister-Killian Syndrome
Congenital diaphragmatic hernia, Micrognathia, Flexion contracture, Hyperpigmented streaks, Renal... OMIM:601803
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Patent ductus arteriosus, Coarctation of aorta, Interrupted aortic arch, Hypertrophic cardiomyopa... ORPHA:17
Maternal Phenylketonuria
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Hypoplastic left hear... ORPHA:2209
Spondyloepimetaphyseal Dysplasia, Genevieve Type
Ataxia, Synophrys, Low anterior hairline, Brachycephaly, Low posterior hairline, Seizure, Hirsutism OMIM:610442
You-Hoover-Fong Syndrome
Coarctation of aorta, Double aortic arch, Vascular ring OMIM:616954
Congenital Tricuspid Stenosis
Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Bacterial en... ORPHA:95459
Juvenile Polyposis Syndrome
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Multipl... ORPHA:2929
Acute Transverse Myelitis
Hypertension, Orthostatic hypotension, Subarachnoid hemorrhage ORPHA:139417
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Ventricular septal defect, Absent pulmonary artery, Patent ductus arteriosus, Coarctation of aort... OMIM:600460
Opitz Gbbb Syndrome
Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Persistent left s... ORPHA:2745
Cardiofaciocutaneous Syndrome
Brittle hair, High palate, Biparietal narrowing, Sparse hair, Atrial septal defect, Dystrophic fi... ORPHA:1340
Autosomal Recessive Hypophosphatemic Rickets
Delayed eruption of teeth, Hyperphosphaturia, Abnormality of renal excretion, Craniosynostosis, M... ORPHA:289176
Hardikar Syndrome
Ventricular septal defect, Portal hypertension, Hematemesis, Patent ductus arteriosus, Partial an... OMIM:301068
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Aortic regurgitation, Bicuspid aortic valve, Truncus arteriosus, Ventricular septal defect, Spina... ORPHA:508498
Mosaic Trisomy 1
Ventricular septal defect, Polyhydramnios, Increased nuchal translucency, Coarctation of aorta, P... ORPHA:1692
Lynch Syndrome 5
Neoplasm of the pancreas, Endometrial carcinoma, Hereditary nonpolyposis colorectal carcinoma, Ov... OMIM:614350
Phace Syndrome
Cerebral arteriovenous malformation, Abnormal heart morphology, Coarctation of aorta, Aortic root... ORPHA:42775
Singleton-Merten Syndrome 1
Waddling gait, Mitral valve calcification, Hypoplasia of the tooth germ, Cardiomegaly, Hypoplasia... OMIM:182250
Autosomal Recessive Robinow Syndrome
Ventricular septal defect, Abnormal pulmonary valve morphology, Abnormal aortic morphology, Abnor... ORPHA:1507
Marfan Syndrome
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Congestive heart failure, M... OMIM:154700
Autosomal Dominant Cutis Laxa
Aortic regurgitation, Congestive heart failure, Dilatation of the ventricular cavity, Coarctation... ORPHA:90348
8Q24.3 Microdeletion Syndrome
Gastrointestinal hemorrhage, Branchial cyst, Truncus arteriosus, Ventricular septal defect, Dyspl... ORPHA:508488
Vascular Ehlers-Danlos Syndrome
Internal hemorrhage, Abnormal bleeding, Peripheral arteriovenous fistula, Varicose veins, Ascendi... ORPHA:286
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Sinus bradycardia OMIM:619482
Noonan Syndrome 7
Curly hair, Large for gestational age, Dolichocephaly, Lentigo maligna melanoma, Low posterior ha... OMIM:613706
Witteveen-Kolk Syndrome
Intracranial hemorrhage, Branchial fistula, Polyhydramnios, Intrauterine growth retardation OMIM:613406
Noonan Syndrome 1
Abnormal bleeding, Ventricular septal defect, Lymphedema, Patent ductus arteriosus, Coarctation o... OMIM:163950
Diamond-Blackfan Anemia 1
Ventricular septal defect, Tricuspid stenosis, Congestive heart failure, Coarctation of aorta, At... OMIM:105650
Lung Cancer
Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma OMIM:211980
Schimmelpenning-Feuerstein-Mims Syndrome
Coarctation of aorta OMIM:163200
Ctcf-Related Neurodevelopmental Disorder
Patent ductus arteriosus, Coarctation of aorta, Mitral regurgitation, Atrial septal defect, Pulmo... ORPHA:363611
Gabriele-De Vries Syndrome
Intrauterine growth retardation, Patent foramen ovale, Aortopulmonary collateral arteries OMIM:617557
Tropical Calcific Pancreatitis
Neoplasm of the pancreas, Insulin-dependent but ketosis-resistant diabetes, Pancreatic calcificat... OMIM:608189
Robinow Syndrome
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Pulmonic stenosis, At... ORPHA:97360
Jacobsen Syndrome
Ventricular septal defect, Spina bifida, Coarctation of aorta, Hypoplastic left heart, Intrauteri... ORPHA:2308
Orofaciodigital Syndrome Vi
Occipital meningocele, Hypoplastic left heart, Coarctation of aorta OMIM:277170
Turner Syndrome Due To Structural X Chromosome Anomalies
Prolonged QT interval, Aortic arch aneurysm, Arterial dissection, Bicuspid aortic valve, Myocardi... ORPHA:99413
Mosaic Monosomy X
Prolonged QT interval, Aortic arch aneurysm, Arterial dissection, Bicuspid aortic valve, Myocardi... ORPHA:99228
Monosomy X
Prolonged QT interval, Aortic arch aneurysm, Arterial dissection, Bicuspid aortic valve, Myocardi... ORPHA:99226
Turner Syndrome
Prolonged QT interval, Aortic arch aneurysm, Arterial dissection, Bicuspid aortic valve, Myocardi... ORPHA:881
Smith-Lemli-Opitz Syndrome
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Hypertension, Atrial s... OMIM:270400
45,X/46,Xy Mixed Gonadal Dysgenesis
Prolonged QT interval, Tachycardia, Bicuspid aortic valve, Coarctation of aorta ORPHA:1772
Mycophenolate Mofetil Embryopathy
Ventricular septal defect, Hydrops fetalis, Coarctation of aorta ORPHA:268249
Catel-Manzke Syndrome
Overriding aorta, Ventricular septal defect, Dextrocardia, Coarctation of aorta, Umbilical hernia... OMIM:616145
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Cardiomegaly, Lip telangiectasia, ... ORPHA:79280
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Ventricular septal defect, Muscular ventricular septal defect, Coarctation of aorta, Hypertension... OMIM:210710
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Patent ductus arteriosus, Atrioventricular canal defect, Spina bifida, Coarctation of aorta OMIM:619480
Craniopharyngioma
Enlarged pituitary gland, Papilledema, Hypogonadotropic hypogonadism, Neoplasm of the anterior pi... ORPHA:54595
Leopard Syndrome 3
Few cafe-au-lait spots, Curly hair, Low posterior hairline, Seizure, Abnormal aortic valve morpho... OMIM:613707
Igg4-Related Kidney Disease
Pericarditis, Abnormal aortic morphology, Arteritis, Pedal edema ORPHA:449395
Blomstrand Lethal Chondrodysplasia
Hydrops fetalis, Polyhydramnios, Coarctation of aorta ORPHA:50945
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Tetralogy of Fallot, Pat... OMIM:618748
Esophageal Atresia
Tetralogy of Fallot, Ventricular septal defect, Polyhydramnios, Coarctation of aorta ORPHA:1199
Cushing Disease
Adrenal hyperplasia, Myocardial infarction, Pituitary corticotropic cell adenoma, Increased body ... ORPHA:96253
Pmm2-Cdg
Pericarditis, Angina pectoris, Lymphedema, Pericardial effusion, Intracranial hemorrhage, Anasarc... ORPHA:79318
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Patent ductus arteriosus, Atrioventricular canal defect, Polyhydramnios, Coarctation of aorta OMIM:617088
Nicolaides-Baraitser Syndrome
Umbilical hernia, Intrauterine growth retardation, Coarctation of aorta OMIM:601358
Aprosencephaly And Cerebellar Dysgenesis
Aprosencephaly OMIM:601374
Diamond-Blackfan Anemia
Radial artery aplasia, Ventricular septal defect, Nonimmune hydrops fetalis, Abnormal heart morph... ORPHA:124
Kabuki Syndrome
Abnormal cardiac septum morphology, Coarctation of aorta ORPHA:2322
Mullegama-Klein-Martinez Syndrome
Hypoplastic left heart, Apical muscular ventricular septal defect, Coarctation of aorta OMIM:301022
Floating-Harbor Syndrome
Coarctation of aorta, Atrial septal defect, Umbilical hernia, Mesocardia, Persistent left superio... OMIM:136140
Pallister-Hall Syndrome
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Intrauterine growth re... ORPHA:672
Floating-Harbor Syndrome
Tetralogy of Fallot, Coarctation of aorta, Atrial septal defect, Mesocardia, Persistent left supe... ORPHA:2044
Melanoma, Cutaneous Malignant, Susceptibility To, 1
Uveal melanoma, Cutaneous melanoma OMIM:155600
Kabuki Syndrome 1
Atrial septal defect, Ventricular septal defect, Coarctation of aorta OMIM:147920
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bicuspid aortic valve, Abnormal pulmonary valve morphology, Pulmonary artery sling, Abnormal hear... ORPHA:261537
Craniofacial Microsomia 1
Occipital encephalocele, Ventricular septal defect, Patent ductus arteriosus, Coarctation of aort... OMIM:164210
Colorectal Cancer
Hereditary nonpolyposis colorectal carcinoma, Neoplasm of the stomach, Renal cell carcinoma, Uter... OMIM:114500
Syringocystadenoma Papilliferum
Sparse scalp hair ORPHA:840

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 Braf

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 Braf.

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

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
Braftm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Braftm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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