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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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 predicted to be associated to Braf by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Specific Language Impairment 2
Deficit in phonologic short-term memory OMIM:606712
Specific Language Impairment 1
Deficit in phonologic short-term memory OMIM:606711
Presenile Dementia, Kraepelin Type
Dementia OMIM:176600
Schizophrenia 19
Cognitive impairment OMIM:617629
Monoamine Oxidase A Deficiency
Cognitive impairment ORPHA:3057
Reversible Cerebral Vasoconstriction Syndrome
Cerebral hemorrhage, Subdural hemorrhage, Vasospasm, Intraventricular hemorrhage, Abnormal bleedi... ORPHA:284388
Aneurysm, Intracranial Berry, 12
Internal carotid artery dissection, Cerebral berry aneurysm, Arterial fibromuscular dysplasia, Fu... OMIM:618734
Familial Cervical Artery Dissection
Hypertension, Recurrent cerebral hemorrhage, Cerebral ischemia, Carotid artery dilatation, Stroke... ORPHA:36382
Placental Insufficiency
Eclampsia, Preeclampsia, Intrauterine growth retardation, Maternal hypertension, Spontaneous abor... ORPHA:439167
Moderate Hemophilia A
Intracranial hemorrhage, Epidural hemorrhage, Gingival bleeding, Subdural hemorrhage, Joint hemor... ORPHA:169805
Hemophilia A
Intracranial hemorrhage, Joint hemorrhage, Bleeding with minor or no trauma, Spontaneous hematoma... ORPHA:98878
Internal Carotid Absence
Dilatation of the cerebral artery, Cerebral ischemia, Subarachnoid hemorrhage ORPHA:981
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Intrauterine growth retardation, Bradycardia, Patent ductus arterios... OMIM:616276
Tuberous Sclerosis Complex
Seizure, Pulmonary lymphangiomyomatosis, Renal angiomyolipoma, Focal-onset seizure, Chronic kidne... ORPHA:805
Carney Complex, Type 1
Thyroid follicular hyperplasia, Cardiac myxoma, Thyroid carcinoma, Hirsutism, Red hair, Freckling... OMIM:160980
Abetal34V Amyloidosis
Cerebral hemorrhage, Stroke, Abnormal cerebral vascular morphology ORPHA:324703
Aneurysm, Intracranial Berry, 2
Cerebral berry aneurysm, Subarachnoid hemorrhage OMIM:608542
Long Qt Syndrome 16
T-wave alternans, Patent ductus arteriosus after birth at term, Prolonged QTc interval, Perimembr... OMIM:618782
Aneurysm, Intracranial Berry, 1
Intracranial hemorrhage, Dilatation of the cerebral artery OMIM:105800
Cerebral Cavernous Malformations 2
Cerebral hemorrhage, Telangiectasia, Cerebral cavernous malformation, Stroke OMIM:603284
Multiple Endocrine Neoplasia Type 1
Shortened QT interval, Duodenal ulcer, Thyroid carcinoma, Meningioma, Goiter, Gingival fibromatos... ORPHA:652
Cardiocranial Syndrome, Pfeiffer Type
Hypospadias, High, narrow palate, Micrognathia, Torticollis, Abnormal heart morphology, Temporoma... ORPHA:2872
Cerebral Amyloid Angiopathy, Cst3-Related
Cerebral hemorrhage, Stroke, Intracranial hemorrhage OMIM:105150
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Bradycardia OMIM:617182
Atrial Standstill
Syncope, Abnormal P wave, Atrial standstill, Reduced ejection fraction, Ventricular escape rhythm... ORPHA:1344
Hereditary Amyloidosis With Primary Renal Involvement
Oligospermia, Tubulointerstitial nephritis, Lymphadenopathy, Decreased glomerular filtration rate... ORPHA:85450
Abeta Amyloidosis, Italian Type
Cerebral hemorrhage, Stroke ORPHA:324713
Neurofibromatosis Type 1
Neoplasm of the skin, Astrocytoma, Meningioma, Plexiform neurofibroma, Generalized hyperpigmentat... ORPHA:636
Atrial Fibrillation, Familial, 18
Palpitations, Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Bradycardia OMIM:617280
Cerebral Cavernous Malformations 3
Cerebral hemorrhage, Cerebral cavernous malformation OMIM:603285
Intellectual Developmental Disorder With Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Bradycardia OMIM:617173
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Microvesicular hepatic steatosis, Highly arched eyebrow, Hirsutism, Low anterior hairline, Tachyp... OMIM:220111
Medullary Thyroid Carcinoma
Neoplasm of the lung, Lymphadenopathy, Weight loss, Nodular goiter, Abnormal liver parenchyma mor... ORPHA:1332
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Cerebral hemorrhage, Hypertension, Intracranial hemorrhage, Cerebral ischemia, Stroke, Transient ... ORPHA:136
Abeta Amyloidosis, Iowa Type
Cerebral hemorrhage, Stroke, Abnormal cerebral vascular morphology ORPHA:324708
Paragangliomas 1
Adrenal pheochromocytoma, Extraadrenal pheochromocytoma, Glomus tympanicum paraganglioma, Palpita... OMIM:168000
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Cerebral hemorrhage, Purpura, Pulmonary embolism OMIM:614514
Pyruvate Dehydrogenase Deficiency
Dystonia, Gait disturbance, High palate, Multiple lipomas, Trigonocephaly, Tachypnea, Frontal bos... ORPHA:765
Paragangliomas 3
Adrenal pheochromocytoma, Extraadrenal pheochromocytoma, Palpitations, Tachycardia, Neoplasm, Che... OMIM:605373
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Wheezing, Neonatal respiratory distress, Crackles, Cholesteatoma, Elevated circulating thyroid-st... OMIM:610978
Sporadic Pheochromocytoma/Secreting Paraganglioma
Cerebral hemorrhage, Adrenal pheochromocytoma, Paraganglioma of head and neck, Extraadrenal pheoc... ORPHA:276621
Pheochromocytoma--Islet Cell Tumor Syndrome
Episodic hypertension, Cerebral hemorrhage, Tachycardia, Cafe-au-lait spot, Congestive heart fail... OMIM:171420
Sinoatrial Node Dysfunction And Deafness
Bradycardia OMIM:614896
Grfoma
Neoplasm of the thymus, Increased circulating cortisol level, Neoplasm of the small intestine, In... ORPHA:97261
Wyburn-Mason Syndrome
Cerebral hemorrhage, Gingival bleeding, Abnormal cerebral vascular morphology, Epistaxis, Vascula... ORPHA:53719
Systemic Capillary Leak Syndrome
Myocarditis, Leukocytosis, Pericarditis, Weight loss, Pancreatitis, Oliguria, Abnormal renal tubu... ORPHA:188
Immune Thrombocytopenia
Cerebral hemorrhage, Gingival bleeding, Petechiae, Epistaxis, Gastrointestinal hemorrhage, Purpur... ORPHA:3002
Pseudo-Torch Syndrome 2
Cerebral hemorrhage, Ascites, Petechiae, Bradycardia, Patent ductus arteriosus OMIM:617397
Hereditary Pheochromocytoma-Paraganglioma
Extraadrenal pheochromocytoma, Elevated urinary epinephrine, Arachnoid hemangiomatosis, Elevated ... ORPHA:29072
Methanol Poisoning
Cerebral hemorrhage, Hypertension, Intracranial hemorrhage, Permanent atrial fibrillation, Myocar... ORPHA:31825
Brain Small Vessel Disease 3
Cerebral hemorrhage OMIM:618360
Acute Monoblastic/Monocytic Leukemia
Central hypothyroidism, Leukocytosis, Weight loss, Anemia, Hypochromic anemia, Oliguria, Lymphocy... ORPHA:514
Adenine Phosphoribosyltransferase Deficiency
Macroscopic hematuria, Urinary hesitancy, Urinary retention, Dysuria, Nephrolithiasis, Stage 5 ch... ORPHA:976
Warburg Micro Syndrome 4
Decreased motor nerve conduction velocity, Optic atrophy, Developmental cataract, Hirsutism, Low ... OMIM:615663
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Dilated cardiomyopathy, Moyamoya phenomenon, Hypertension, Cerebral hemorrhage, Ischemic stroke, ... ORPHA:280679
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormality of blood circulation, Levotransposition of the great arteries, Patent ductus arterios... ORPHA:860
Autosomal Dominant Polycystic Kidney Disease
Mitral valve prolapse, Pancreatic cysts, Pituitary growth hormone cell adenoma, Decreased glomeru... ORPHA:730
Cerebral Cavernous Malformations
Cerebral cavernous malformation, Intracranial hemorrhage OMIM:116860
Aortic Aneurysm, Familial Thoracic 4
Aortic dissection, Ascending tubular aorta aneurysm, Carotid artery stenosis, Cystic medial necro... OMIM:132900
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Ventricular tachycardia, Syncope, Bradycardia OMIM:611938
Familial Aortic Dissection
Aortic dissection, Mucoid extracellular matrix accumulation, Descending thoracic aorta aneurysm, ... ORPHA:229
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Micrognathia, Neutropenia, Methylmalonic aciduria, Tachypnea, Homocystinuria, Pulmonary arterial ... OMIM:614857
Familial Cerebral Saccular Aneurysm
Aortic dissection, Hypertension, Intracranial hemorrhage, Abnormal circle of Willis morphology, C... ORPHA:231160
Multiple Endocrine Neoplasia Type 2
Ganglioneuromatosis, Elevated urinary epinephrine, Elevated urinary catecholamines, Primary hyper... ORPHA:653
Lcat Deficiency
Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Acute kidney injury, Cornea... ORPHA:650
Congenital Factor Xiii Deficiency
Cerebral hemorrhage, Ecchymosis, Menorrhagia, Gingival bleeding, Post-partum hemorrhage, Joint he... ORPHA:331
Peroxisomal Acyl-Coa Oxidase Deficiency
Dystonia, Hepatomegaly, Optic atrophy, Brachycephaly, Frontal bossing, Diffuse hepatic steatosis,... OMIM:264470
Propionic Acidemia
Dystonia, Hepatomegaly, Neutropenia, Tachypnea, Cerebellar hemorrhage, Failure to thrive, Apnea, ... OMIM:606054
Laurence-Moon Syndrome
Brachycephaly, Congenital hepatic fibrosis, Iris coloboma, Displacement of the urethral meatus, A... ORPHA:2377
Sneddon Syndrome
Cerebral hemorrhage, Hypertension, Ischemic stroke OMIM:182410
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Dilated cardiomyopathy, Moyamoya phenomenon, Cerebral hemorrhage, Abnormal left ventricle morphol... OMIM:300845
Atypical Rett Syndrome
Dystonia, Gait disturbance, Limb myoclonus, Sudden episodic apnea, Abnormal pattern of respiratio... ORPHA:3095
Oligomeganephronia
Bilateral renal hypoplasia, Renal tubular atrophy, Micrognathia, Abnormal nephron morphology, Sma... ORPHA:2260
Chronic Atrial And Intestinal Dysrhythmia
Bicuspid aortic valve, Atrial fibrillation, Mitral regurgitation, Bradycardia, Pulmonic stenosis,... OMIM:616201
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Respiratory arrest, Hypertrophic cardiomyopathy, Hepatomegaly, Hepatocellular necrosis, Reduced e... OMIM:201475
Sepsis In Premature Infants
Leukocytosis, Hepatomegaly, Neutropenia, Small for gestational age, Anemia, Reversible renal fail... ORPHA:90051
Pheochromocytoma
Episodic hypertension, Cerebral hemorrhage, Developmental cataract, Hemangioma, Tachycardia, Neop... OMIM:171300
Potocki-Shaffer Syndrome
Hypertension, Micrognathia, Brachycephaly, Anemia, Parietal foramina, Exostoses, Seizure, Micrope... ORPHA:52022
Microcephaly-Microcornea Syndrome, Seemanova Type
High palate, Brachycephaly, Hypogonadism, Cataract, Retrognathia, Microcornea ORPHA:2528
Circumvallate Placenta Syndrome
Intracranial hemorrhage, Polyhydramnios OMIM:215550
Pseudoxanthoma Elasticum, Forme Fruste
Cerebral hemorrhage, Mitral valve prolapse, Peau d'orange, Retinal hemorrhage, Medial calcificati... OMIM:177850
Timothy Syndrome
Ventricular septal defect, Prolonged QT interval, Cardiomegaly, Bradycardia, Patent ductus arteri... OMIM:601005
Dural Sinus Malformation
Arteriovenous fistula, Cerebral hemorrhage, Carotid cavernous fistula, Intracranial hemorrhage, S... ORPHA:97339
Aorto-Ventricular Tunnel
Abnormal aortic morphology, Aortic root aneurysm, Ventricular hypertrophy, Abnormal coronary arte... ORPHA:3400
Paragangliomas 4
Adrenal pheochromocytoma, Neuroblastoma, Extraadrenal pheochromocytoma, Gastrointestinal stroma t... OMIM:115310
Multiple Endocrine Neoplasia, Type Iia
Hypertension, Aganglionic megacolon, Elevated urinary epinephrine, Elevated urinary vanillylmande... OMIM:171400
Recurrent Respiratory Papillomatosis
Wheezing, Syncope, Stridor, Respiratory insufficiency, Tachypnea, Failure to thrive, Upper airway... ORPHA:60032
Fibronectin Glomerulopathy
Cerebral hemorrhage, Hypertension, Pedal edema ORPHA:84090
Atrial Standstill 2
Atrial standstill, Palpitations, Bradycardia, Cardiomyopathy, Atrial cardiomyopathy, Absent P wav... OMIM:615745
Tako-Tsubo Cardiomyopathy
Syncope, Ventricular arrhythmia, Mildly reduced ejection fraction, ST segment depression, Low-out... ORPHA:66529
Erythrocytosis, Familial, 2
Cerebral hemorrhage, Stroke, Varicose veins, Hypotension OMIM:263400
Myopathy, Myofibrillar, 1
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Restric... OMIM:601419
Complete Atrioventricular Septal Defect
Wheezing, Right ventricular failure, Left-to-right shunt, Crackles, Third heart sound, Abnormal E... ORPHA:1329
17Q11 Microdeletion Syndrome
Plexiform neurofibroma, Leukemia, Optic nerve glioma, Brain neoplasm, Cerebellar glioma, Seizure,... ORPHA:97685
Familial Afibrinogenemia
Cerebral hemorrhage, Gingival bleeding, Epistaxis, Abnormal bleeding, Joint swelling ORPHA:98880
Congenitally Corrected Transposition Of The Great Arteries
Third degree atrioventricular block, Cardiac conduction abnormality, Single ventricle, Double out... ORPHA:216694
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypertrophic cardiomyopathy, Obstructive sleep apnea, Brachycephaly, Failure to thrive, Abnormal ... ORPHA:70472
Gómez-López-Hernández Syndrome
Alopecia of scalp, Brachycephaly, Ataxia, Corneal opacity, Turricephaly, Midface retrusion ORPHA:1532
Neurofibromatosis, Type I
Hypertension, Pheochromocytoma, Astrocytoma, Meningioma, Plexiform neurofibroma, Rhabdomyosarcoma... OMIM:162200
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Intrauterine growth retardation, Ventricular hypertrophy, Bradycardia, Left ventricular hypertrop... OMIM:619048
Acquired Aneurysmal Subarachnoid Hemorrhage
Cerebral hemorrhage, Syncope, Hypertension, ST segment depression, Prolonged QTc interval, Cerebr... ORPHA:90065
Osteogenesis Imperfecta, Type Xvii
Intraventricular hemorrhage OMIM:616507
Neurofibromatosis-Pheochromocytoma-Duodenal Carcinoid Syndrome
Carcinoid tumor, Pheochromocytoma, Neurofibromas, Jaundice OMIM:162240
Warburg Micro Syndrome 3
Optic atrophy, Developmental cataract, Micrognathia, Shallow anterior chamber, Hypertrichosis, Lo... OMIM:614222
Idiopathic Neonatal Atrial Flutter
Abnormal QRS complex, Maternal diabetes, Reduced ejection fraction, Tachypnea, Supraventricular t... ORPHA:45452
Coronary Arterial Fistula
Syncope, Bicuspid aortic valve, Patent ductus arteriosus, Exertional dyspnea, Abnormal EKG, Aorti... ORPHA:2041
Staphylococcal Necrotizing Pneumonia
Shock, Leukocytosis, Hypoxemia, Leukopenia, Pneumonia, Tachypnea, Pneumothorax, Increased circula... ORPHA:36238
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Hypertension, Large fontanelles, Small for gestational age, Tachypnea, Pulmonary arterial hyperte... OMIM:613320
Juvenile Neuronal Ceroid Lipofuscinosis
Optic disc pallor, Myoclonic spasms, Bilateral tonic-clonic seizure, Abnormal heart morphology, A... ORPHA:79264
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, And Abnormalities Of The Hands And Feet
Trigonocephaly, Prominent metopic ridge, Micrognathia, Brachycephaly OMIM:275595
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Gait disturbance, Failure to thrive in infancy, Tubulointerstitial nephritis, Gait imbalance, Nep... ORPHA:488627
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Arrhythmia, Bradycardia, Atrial fibrillation OMIM:614302
Non-Distal Trisomy 10Q
Micrognathia, High palate, Brachycephaly, Abnormality of the urinary system, Frontal bossing, Cry... ORPHA:1695
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Severe intrauterine growth retardation, Intrauterine growth retardation, Severe postnatal growth ... ORPHA:73272
Holocarboxylase Synthetase Deficiency
Tachypnea, Weight loss, Alopecia, Seizure, Ataxia, Respiratory distress, Thrombocytopenia, Kerato... ORPHA:79242
Fibromuscular Dysplasia, Arterial
Aortic dissection, Renovascular hypertension, Arterial fibromuscular dysplasia, Intermittent clau... OMIM:135580
Von Hippel-Lindau Syndrome
Hypertension, Retinal capillary hemangioma, Pancreatic cysts, Pulmonary capillary hemangiomatosis... OMIM:193300
Atrial Septal Defect 6
Atrial fibrillation, Atrial septal defect, Bradycardia OMIM:613087
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Hirsutism, Atypical pulmonary carcinoid tumor, Small intestine carcinoid, Ne... ORPHA:99889
Telangiectasia, Hereditary Hemorrhagic, Type 4
Dilatation of celiac artery, Cerebral hemorrhage, Ischemic stroke, Spinal arteriovenous malformat... OMIM:610655
Gomez-Lopez-Hernandez Syndrome
Opacification of the corneal stroma, High palate, Brachycephaly, Craniosynostosis, Skull asymmetr... OMIM:601853
Mental Retardation, Autosomal Dominant 52
Seizure, Hyperactivity, Cryptorchidism OMIM:617796
Non-Functioning Paraganglioma
Cerebral hemorrhage, Palpitations, Congestive heart failure, Hypertension associated with pheochr... ORPHA:94080
Lysinuric Protein Intolerance
Tubulointerstitial nephritis, Oroticaciduria, Decreased glomerular filtration rate, Decreased cir... ORPHA:470
Long Qt Syndrome 13
Syncope, Hypertension, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Tachyc... OMIM:613485
Coenzyme Q10 Deficiency, Primary, 5
Left ventricular hypertrophy, Intrauterine growth retardation, Bradycardia OMIM:614654
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Hypospadias, Renal hypoplasia, Micrognathia, Renal agenesis, Large fontanelles, Brachycephaly, Cr... ORPHA:171839
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency
Seizure, Ataxia, Brachycephaly ORPHA:404493
Hereditary Hemorrhagic Telangiectasia
Cerebral hemorrhage, Abnormal cerebral vascular morphology, Conjunctival telangiectasia, Telangie... ORPHA:774
Multiple Carboxylase Deficiency
Optic atrophy, Tachypnea, Alopecia, Seizure, Ataxia, Respiratory distress, Organic aciduria, Leth... ORPHA:148
Partial Atrioventricular Septal Defect
Syncope, Bicuspid aortic valve, Patent ductus arteriosus, Transient ischemic attack, Anomalous pu... ORPHA:1330
1Q21.1 Microduplication Syndrome
Hypospadias, Failure to thrive, Arthrogryposis multiplex congenita, Frontal bossing, Tetralogy of... ORPHA:250994
Multiple Endocrine Neoplasia, Type Iib
High, narrow palate, Failure to thrive in infancy, High palate, Aganglionic megacolon, Elevated u... OMIM:162300
Familial Short Qt Syndrome
Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, Palpitations, Atriov... ORPHA:51083
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect, Sinus bradycardia, Patent ductus arteriosus, Varicose veins, Pedal ede... OMIM:126320
Pierpont Syndrome
Brachycephaly, Failure to thrive, Seizure, Micropenis, Decreased body weight, Cryptorchidism, Abn... OMIM:602342
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Prolonged prothrombin time, Neonatal death, Intrauterine growth retardation, Intraventricular hem... OMIM:619055
Immunodeficiency 8
Hyperactivity, Lymphopenia OMIM:615401
Autosomal Recessive Polycystic Kidney Disease
Abnormality of the intrahepatic bile duct, Cholangitis, Esophageal varix, Cholangiocarcinoma, Spl... ORPHA:731
Methylmalonic Acidemia With Homocystinuria Type Cblf
Abnormal heart morphology, Intrauterine growth retardation, Intraventricular hemorrhage ORPHA:79284
Sneddon Syndrome
Hypertension, Intracranial hemorrhage, Arterial stenosis ORPHA:820
Dengue Fever
Cerebral hemorrhage, Gingival bleeding, Petechiae, Ascites, Epistaxis, Gastrointestinal hemorrhag... ORPHA:99828
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Peripheral axonal degeneration, Small for gestational age, Tachypnea, Failure to thrive, Axonal d... OMIM:604320
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Descending thoracic aorta aneurysm, Aortic root aneurysm, Patent ductus ar... ORPHA:91387
Carney Triad
Adrenal overactivity, Hypertension, Adrenocortical adenoma, Mediastinal lymphadenopathy, Gastroin... ORPHA:139411
Interstitial Pneumonitis, Desquamative, Familial
Cor pulmonale, Tachypnea, Failure to thrive, Tubulointerstitial fibrosis, Cough, Respiratory dist... OMIM:263000
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Dilated cardiomyopathy, Premature ventricular contraction, Sinus bradycardia, Atrial fibrillation... OMIM:616117
Histiocytoid Cardiomyopathy
Cleft palate, Congenital aphakia, Seizure, Megalocornea, Shortened PR interval, Junctional ectopi... ORPHA:137675
Sudden Cardiac Failure, Infantile
Hypertrophic cardiomyopathy, Myocarditis, Bradycardia, Congestive heart failure, Myocardial fibrosis OMIM:617222
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Apneic episodes in infancy, Micrognathia, Meckel diverticulum, Episodic tachypnea, Frontal bossin... ORPHA:163961
Methionine Malabsorption Syndrome
Blue irides, Tachypnea, White hair, Seizure, Aminoaciduria OMIM:250900
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Bradycardia, Hydrops fetalis OMIM:618815
Familial Multiple Nevi Flammei
Intracranial hemorrhage, Edema, Venous insufficiency, Pulmonary embolism, Arrhythmia, Arterioveno... ORPHA:624
Congenital Factor V Deficiency
Bruising susceptibility, Menorrhagia, Intracranial hemorrhage, Prolonged bleeding following proce... ORPHA:326
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Third degree atrioventricular block, Sinus bradycardia, Pericardial effus... OMIM:115200
Fixed Subaortic Stenosis
Syncope, Bicuspid aortic valve, Patent ductus arteriosus, Ventricular septal defect, Mitral regur... ORPHA:3092
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
+173470 integrin, beta-3
Menorrhagia, Intracranial hemorrhage, Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, ... OMIM:173470
Long Qt Syndrome 15
Prolonged QT interval, Prolonged QTc interval, Bradycardia, Cardiac arrest, Ventricular fibrillation OMIM:616249
Craniofacial Dyssynostosis With Short Stature
Hypospadias, Brachyturricephaly, Horseshoe kidney, Abnormal shape of the occiput, Ventricular sep... OMIM:218350
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal tubular atrophy, Renal hypoplasia, Tubulointerstitial nephritis, Renal cortical atrophy, De... OMIM:174000
X-Linked Intellectual Disability, Sutherland-Haan Type
Small for gestational age, Brachycephaly, Mandibular prognathia, Anal atresia, Hypoplasia of the ... ORPHA:93950
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Bradycardia OMIM:616299
Chromosome 3Pter-P25 Deletion Syndrome
Flat occiput, Highly arched eyebrow, Micrognathia, High palate, Small for gestational age, Brachy... OMIM:613792
Recombinant Chromosome 8 Syndrome
Ventricular septal defect, Micrognathia, Hydronephrosis, Brachycephaly, Double outlet right ventr... OMIM:179613
Primary Hyperoxaluria Type 1
Hyperoxaluria, Nephrocalcinosis, Failure to thrive, Hematuria, Decreased glomerular filtration ra... ORPHA:93598
Glanzmann Thrombasthenia 1
Menorrhagia, Intracranial hemorrhage, Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, ... OMIM:273800
Paragangliomas 7
Pheochromocytoma, Paraganglioma OMIM:618475
Potocki-Shaffer Syndrome
Multiple exostoses, Brachycephaly, Sparse lateral eyebrow, Wormian bones, Parietal foramina, Seiz... OMIM:601224
Sting-Associated Vasculopathy, Infantile-Onset
Thrombocytosis, Telangiectasia, Leukopenia, Increased circulating IgA level, Tachypnea, Nail dyst... OMIM:615934
Congenital Heart Defects, Multiple Types, 3
Atrial fibrillation, Atrioventricular dissociation, Persistent left superior vena cava, Abnormal ... OMIM:614954
Double Outlet Right Ventricle
Hypoparathyroidism, Ventricular septal defect, Truncus arteriosus, Cleft palate, Tachypnea, Doubl... ORPHA:3426
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Dystonia, Hepatomegaly, Hepatocellular necrosis, Respiratory insufficiency, Tachypnea, Failure to... OMIM:618278
Diffuse Cutaneous Systemic Sclerosis
Carious teeth, Xerostomia, Malabsorption, Oliguria, Flexion contracture, Renal insufficiency ORPHA:220393
Cerebral Amyloid Angiopathy, App-Related
Tortuous cerebral arteries, Recurrent cerebral hemorrhage, Cerebral ischemia, Stroke, Cerebellar ... OMIM:605714
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Hepatic cysts, Decreased glomerular filtration rate, Renal insufficiency, Stage 5 chronic kidney ... OMIM:618061
Erythrocytosis, Familial, 1
Cerebral hemorrhage, Hypertension, Myocardial infarction OMIM:133100
Genetic Recurrent Myoglobinuria
Exercise-induced myoglobinuria, Dark urine, Acute kidney injury, Oliguria, Renal insufficiency, D... ORPHA:99845
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Plagiocephaly, Ventricular septal defect, High palate, Low anterior hairline, Brachycephaly, Mand... ORPHA:369891
Distal Trisomy 14Q
Abnormal aortic morphology, Patent ductus arteriosus ORPHA:1705
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Episodic tachypnea, Jaundice, Lethargy, Ventricular septal defect, Atrial... ORPHA:26793
Insulinoma Tumor Suppressor Gene Locus
Insulinoma OMIM:606960
Intellectual Developmental Disorder, X-Linked 1
Bilateral tonic-clonic seizure, Brachycephaly, Seizure, Atonic seizure, No social interaction OMIM:309530
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Tachypnea, Cough, Pulmonary hemorrhage, Crescentic glomerulonephritis, Decreased DLCO, Restrictiv... OMIM:616414
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Seizure, Myoclonus, Slender build, Brachycephaly OMIM:300699
Silver-Russell Syndrome Due To A Point Mutation
Postnatal growth retardation, Oligohydramnios, Intrauterine growth retardation, Small placenta ORPHA:397590
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Decreased glomerular filtration rate, Nephropathy OMIM:242530
Polycythemia Vera
Cerebral hemorrhage, Gastrointestinal hemorrhage, Cerebral ischemia, Budd-Chiari syndrome OMIM:263300
Hereditary Renal Hypouricemia
Uric acid urolithiasis independent of gout, Abnormal renal physiology, Hematuria, Decreased glome... ORPHA:94088
Progressive Familial Heart Block, Type Ib
Syncope, Prolonged QT interval, Atrioventricular block, Left anterior fascicular block, Bradycard... OMIM:604559
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Increased urinary potassium, Failure to thrive, Decreased glomerular filtration rate, Tubulointer... OMIM:602522
Adenylosuccinate Lyase Deficiency
Flat occiput, Seizure, Prominent metopic ridge, Brachycephaly ORPHA:46
Congenital Factor Ii Deficiency
Menorrhagia, Intracranial hemorrhage, Prolonged bleeding following procedure, Post-partum hemorrh... ORPHA:325
Ritscher-Schinzel Syndrome 1
Hypospadias, Hydronephrosis, Ventricular septal defect, Micrognathia, Cleft palate, Brachycephaly... OMIM:220210
Hemorrhagic Fever-Renal Syndrome
Leukocytosis, Decreased urine output, Tubulointerstitial nephritis, Anuria, Decreased glomerular ... ORPHA:340
3-Hydroxy-3-Methylglutaric Aciduria
Dilated cardiomyopathy, Leukocytosis, Thrombocytosis, Hepatomegaly, Ketonuria, Leukopenia, Tachyp... ORPHA:20
Idiopathic Congenital Hypothyroidism
Bradycardia, Facial edema, Umbilical hernia ORPHA:95717
Lassa Fever
Jaundice, Oliguria, Increased circulating IgM level, Conjunctivitis ORPHA:99824
Joubert Syndrome 7
Central apnea, Tachypnea, Nephronophthisis, Renal cyst, Episodic tachypnea, Ataxia, Neonatal brea... OMIM:611560
Aminopterin Syndrome Sine Aminopterin
Highly arched eyebrow, Micrognathia, Cleft palate, High palate, Brachycephaly, Joint contracture ... OMIM:600325
Avian Influenza
Productive cough, Hypoxemia, Leukopenia, Pneumonia, Tachypnea, Pneumothorax, Hepatitis, Cough, Re... ORPHA:454836
Microscopic Polyangiitis
Pericarditis, Peritonitis, Hematuria, Pancreatitis, Oliguria, Glomerulopathy, Renal insufficiency ORPHA:727
Pierpont Syndrome
Small for gestational age, Brachycephaly, Abnormal subcutaneous fat tissue distribution, Cryptorc... ORPHA:487825
Citrullinemia Type I
Torticollis, Tachypnea, Failure to thrive, Seizure, Ataxia, Lethargy ORPHA:247525
Lujo Hemorrhagic Fever
Myocarditis, Leukocytosis, Leukopenia, Fulminant hepatitis, Microscopic hematuria, Oliguria, Lymp... ORPHA:319213
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior, Hyperactivity, Seizure, Cafe-au-lait spot ORPHA:436151
Joubert Syndrome 9
Hepatic fibrosis, Apnea, Stage 5 chronic kidney disease, Episodic tachypnea, Seizure, Cataract, A... OMIM:612285
Chromosome 3Q13.31 Deletion Syndrome
Plagiocephaly, High, narrow palate, High palate, Brachycephaly, Micropenis, Cryptorchidism, Dolic... OMIM:615433
Snakebite Envenomation
Ecchymosis, Intracranial hemorrhage, Gingival bleeding, Angioedema, Edema, Epistaxis, Tachycardia... ORPHA:449285
Joubert Syndrome With Oculorenal Defect
Highly arched eyebrow, Aganglionic megacolon, Tachypnea, Apnea, Abnormality of the hypothalamus-p... ORPHA:2318
Congenital Muscular Dystrophy, Fukuyama Type
Plagiocephaly, Gait disturbance, Dilated cardiomyopathy, Optic atrophy, Brachycephaly, Seizure, C... ORPHA:272
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Failure to thrive in infancy, Small for gestational age, Hypoplasia of the thymus, Reduced antige... OMIM:617241
Orofaciodigital Syndrome Type 6
Gait disturbance, Micrognathia, Cleft palate, High palate, Highly arched eyebrow, Hamartoma of to... ORPHA:2754
Mental Retardation, Autosomal Dominant 29
High palate, Brachycephaly, Seizure, Narrow palate, Attention deficit hyperactivity disorder, Syn... OMIM:616078
Cataract-Intellectual Disability-Hypogonadism Syndrome
Micrognathia, High palate, Brachycephaly, Hypogonadotropic hypogonadism, Low posterior hairline, ... ORPHA:1387
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Cardiomyopathy, Dicarboxylic aciduria, Oliguria, Lethargy ORPHA:159
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Increased urinary potassium, Failure to thrive, Decreased glomerular filtration rate, Renal insuf... OMIM:613090
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hirsutism, Small for gestational age, Increased serum serotonin, Hyperactivity, Cataract ORPHA:85288
Glycogen Storage Disease Ib
Hepatomegaly, Focal segmental glomerulosclerosis, Neutropenia, Hepatocellular carcinoma, Decrease... OMIM:232220
Primary Pulmonary Hypoplasia
Abnormal breath sound, Hypoxemia, Dextrocardia, Neonatal respiratory distress, Micrognathia, Clef... ORPHA:2257
8Q12 Microduplication Syndrome
Highly arched eyebrow, Ventricular septal defect, Brachycephaly, Atrial septal defect, Vesicouret... ORPHA:228399
Joubert Syndrome
Gait disturbance, Highly arched eyebrow, Aganglionic megacolon, Abnormal pattern of respiration, ... ORPHA:475
Myopathy, Congenital, Bailey-Bloch
Micrognathia, Cleft palate, High palate, Brachycephaly, Flexion contracture, Restrictive ventilat... OMIM:255995
Mental Retardation, Autosomal Dominant 45
Seizure, Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Cornelia De Lange Syndrome 5
Highly arched eyebrow, Micrognathia, Cleft palate, High palate, Hirsutism, Low anterior hairline,... OMIM:300882
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Cerebral hemorrhage, Hypertrophic cardiomyopathy, Abnormal vascular morphology, Intracranial hemo... ORPHA:464321
Atrial Septal Defect, Sinus Venosus Type
Left-to-right shunt, Cardiac conduction abnormality, Anomalous pulmonary venous return, Supravent... ORPHA:99105
3-Methylglutaconic Aciduria, Type Viii
Bradycardia OMIM:617248
Acute Interstitial Pneumonia
Reduced hematocrit, Hypoxemia, Hypertension, Crackles, Pericardial effusion, Bronchiectasis, Lymp... ORPHA:79126
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Hypertrophic cardiomyopathy, Reduced ejection fraction, Tachypnea, Aortic regurgitation, Patent d... OMIM:616501
Von Hippel-Lindau Disease
Myocarditis, Elevated urinary catecholamines, Cerebellar hemangioblastoma, Endolymphatic sac tumo... ORPHA:892
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Broad jaw, Craniosynostosis, Thickened calvaria, Brachycephaly ORPHA:178377
Hereditary Pulmonary Alveolar Proteinosis
Hypoxemia, Failure to thrive in infancy, Crackles, Tachypnea, Cough, Tachycardia, Respiratory dis... ORPHA:264675
Cardiac Diverticulum
Syncope, Bicuspid aortic valve, Tricuspid stenosis, Abnormal coronary artery origin, Mitral steno... ORPHA:1686
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Central apnea, Low anterior hairline, Brachycephaly, Dysmetria, Spastic gait, Seizure, Gait ataxia OMIM:615031
Distal Renal Tubular Acidosis
Hyperphosphaturia, Aminoaciduria, Nephrocalcinosis, Failure to thrive, Proximal tubulopathy, Decr... ORPHA:18
Severe Hemophilia A
Menorrhagia, Intracranial hemorrhage, Epidural hemorrhage, Subdural hemorrhage, Joint hemorrhage,... ORPHA:169802
Hypocalcemia, Autosomal Dominant 1
Decreased glomerular filtration rate, Nephrolithiasis, Nephrocalcinosis, Hypercalciuria OMIM:601198
Atrial Septal Defect, Ostium Primum Type
Left atrial enlargement, Syncope, Abnormal respiratory system physiology, Third heart sound, Exer... ORPHA:99106
Intellectual Developmental Disorder, X-Linked 104
Optic atrophy, High palate, Trigonocephaly, Poor eye contact, Seizure, Hyperactivity, Ataxia, Ret... OMIM:300983
Williams-Beuren Region Duplication Syndrome
Gait disturbance, Hydronephrosis, Micrognathia, High palate, Brachycephaly, Decreased response to... OMIM:609757
Cocaine Intoxication
Cerebral hemorrhage, Aortic dissection, Hypertension, Prolonged QT interval, Ventricular arrhythm... ORPHA:90068
Mental Retardation, Autosomal Dominant 33
Hyperactivity, Decreased body weight OMIM:616311
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation
Central apnea, Low anterior hairline, Brachycephaly, Dysmetria, Seizure, Gait ataxia ORPHA:320385
Wild Type Attr Amyloidosis
Hypertrophic cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction, Bradycardia, M... ORPHA:330001
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Micrognathia, Cleft palate, Tubulointerstitial nephritis, Brachycephaly, Trigonocephaly, Sparse e... ORPHA:459061
Short Qt Syndrome 2
Syncope, Shortened QT interval, Atrial fibrillation, Bradycardia, Sudden cardiac death, Ventricul... OMIM:609621
Cornelia De Lange Syndrome 2
Hypertrophic cardiomyopathy, Highly arched eyebrow, Micrognathia, High palate, Hirsutism, Low ant... OMIM:300590
Lujan-Fryns Syndrome
Macroorchidism, Micrognathia, High palate, Brachycephaly, Seizure, Atrial septal defect, Camptoda... ORPHA:776
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Seizure, Hyperactivity, Large for gestational age ORPHA:356996
Factor Xiii, A Subunit, Deficiency Of
Ecchymosis, Intracranial hemorrhage, Joint hemorrhage, Epistaxis, Spontaneous hematomas, Abnormal... OMIM:613225
Cleidocranial Dysplasia, Recessive Form
Brachycephaly OMIM:216330
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Highly arched eyebrow, Ventricular septal defect, Micrognathia, High palate, Brachycephaly, Paten... OMIM:618142
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Decreased motor nerve conduction velocity, Optic atrophy, Micrognathia, Brachycephaly, Poor eye c... OMIM:615419
Paraganglioma And Gastric Stromal Sarcoma
Paraganglioma, Neoplasm of the gastrointestinal tract OMIM:606864
Biotinidase Deficiency
Lethargy, Hepatomegaly, Optic atrophy, Tachypnea, Apnea, Alopecia, Splenomegaly, Seizure, Ataxia,... OMIM:253260
Lig4 Syndrome
Leukocytosis, Hepatomegaly, Micrognathia, Type II diabetes mellitus, Acute leukemia, Brachycephal... ORPHA:99812
German Syndrome
Micrognathia, High palate, Brachycephaly, Arthrogryposis multiplex congenita, Abnormal eyebrow mo... ORPHA:2077
Laryngeal Neuroendocrine Tumor
Neuroendocrine neoplasm, Inappropriate antidiuretic hormone secretion, Increased serum serotonin,... ORPHA:100083
Infection-Related Hemolytic Uremic Syndrome
Brain abscess, Leukocytosis, Myocarditis, Decreased urine output, Anuria, Acute colitis, Intestin... ORPHA:544482
Gorlin Syndrome
Carious teeth, Brachycephaly, Mandibular prognathia, Hypogonadotropic hypogonadism, Neoplasm, Iri... ORPHA:377
Progressive Familial Heart Block, Type Ii
Syncope, Sinus bradycardia, Atrioventricular block, Complete heart block with narrow QRS complexe... OMIM:140400
Inverted Duplicated Chromosome 15 Syndrome
Ventricular septal defect, High palate, Brachycephaly, Hernia, Seizure, Hyperactivity, Hypogonadi... ORPHA:3306
Tubulointerstitial Nephritis And Uveitis Syndrome
Reduced hematocrit, Tubulointerstitial nephritis, Normochromic anemia, Decreased glomerular filtr... ORPHA:91500
Carpenter Syndrome 1
Omphalocele, Midface retrusion, Joint contracture of the hand, Patent ductus arteriosus, Camptoda... OMIM:201000
Gillessen-Kaesbach-Nishimura Syndrome
Omphalocele, Micrognathia, Frontotemporal hypertrichosis, Brachycephaly, Abnormal heart morpholog... OMIM:263210
Congenital Factor Vii Deficiency
Menorrhagia, Intracranial hemorrhage, Gingival bleeding, Post-partum hemorrhage, Prolonged prothr... ORPHA:327
Crouzon Disease
Hypopigmented skin patches, Optic atrophy, Respiratory insufficiency, Brachycephaly, Iris colobom... ORPHA:207
Kleefstra Syndrome Due To A Point Mutation
Plagiocephaly, Developmental cataract, Brachycephaly, Failure to thrive, Abnormal heart morpholog... ORPHA:261652
Factor Vii Deficiency
Menorrhagia, Intracranial hemorrhage, Joint hemorrhage, Epistaxis, Abnormal bleeding OMIM:227500
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Subarachnoid hemorrhage, Cerebral vasculitis OMIM:243700
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Failure to thrive in infancy, Synophrys, Pulmonary arterial hypertension, Cardiomeg... OMIM:619064
Orthostatic Hypotension 2
Decreased glomerular filtration rate OMIM:618182
Isolated Brachycephaly
Midface retrusion, Brachycephaly ORPHA:35099
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Bradycardia OMIM:614498
Beta-Ketothiolase Deficiency
Leukocytosis, Thrombocytosis, Hypertension, Hepatomegaly, Tachypnea, Weight loss, Cough, Seizure,... ORPHA:134
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Ventricular septal defect, Intrauterine growth retardation, Pericard... OMIM:618775
Congenital Tricuspid Valve Dysplasia
Hypoxemia, Hepatomegaly, Pericardial effusion, Systolic heart murmur, Small for gestational age, ... ORPHA:555874
Extracranial Carotid Artery Aneurysm
Hypertension, Total anomalous pulmonary venous return, Arterial fibromuscular dysplasia, Cerebral... ORPHA:494424
Infantile Sialic Acid Storage Disease
Hepatomegaly, High palate, Nephrotic syndrome, Failure to thrive, Vacuolated lymphocytes, Cardiom... OMIM:269920
Smith-Magenis Syndrome
Brachycephaly, Abnormality of the urinary system, Abnormal heart morphology, Mandibular prognathi... OMIM:182290
Xq28 (MECP2) duplication
Brachycephaly, Decreased circulating IgA level, Failure to thrive, Functional abnormality of the ... DECIPHER:45
Telangiectasia, Hereditary Hemorrhagic, Type 1
Spinal arteriovenous malformation, Spontaneous, recurrent epistaxis, Pulmonary arteriovenous malf... OMIM:187300
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Even-Plus Syndrome
Renal hypoplasia, Highly arched eyebrow, High palate, Brachycephaly, Anal atresia, Recurrent urin... OMIM:616854
Acute Lung Injury
Shock, Hypoxemia, Pneumonia, Tachypnea, Respiratory distress, Acute pancreatitis, Respiratory fai... ORPHA:178320
Glycogen Storage Disease Ia
Hepatomegaly, Focal segmental glomerulosclerosis, Hepatocellular carcinoma, Decreased glomerular ... OMIM:232200
Kleefstra Syndrome Due To 9Q34 Microdeletion
Seizure, Aortic valve stenosis, Epileptic spasm, Highly arched eyebrow, Conotruncal defect, Aorti... ORPHA:96147
Joubert Syndrome 3
Highly arched eyebrow, Central apnea, Nephronophthisis, Stage 5 chronic kidney disease, Episodic ... OMIM:608629
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Onion bulb formation, Decreased motor nerve conduction velocity, High palate, Peripheral axonal n... OMIM:218000
9P13 Microdeletion Syndrome
Highly arched eyebrow, High palate, Metopic synostosis, Brachycephaly, Myoclonus, Thick eyebrow, ... ORPHA:324313
Congenital Disorder Of Glycosylation, Type Il
Hepatomegaly, Pericardial effusion, Brachycephaly, Failure to thrive, Frontal bossing, Hepatosple... OMIM:608776
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Cleft palate, Brachycephaly, Bifid uvula, Seizure, Hyperactivity, Dysplastic pulmonary valve, Bro... OMIM:300958
Chromosome 13Q33-Q34 Deletion Syndrome
Hypospadias, Pyloric stenosis, Patent ductus arteriosus, Delayed eruption of teeth, Seizure, Peno... OMIM:619148
Cardiomyopathy, Familial Hypertrophic, 6
Hypertrophic cardiomyopathy, Sinus bradycardia, Atrial fibrillation, Ventricular preexcitation, A... OMIM:600858
Insulin-Like Growth Factor I Deficiency
Hyperactivity, Micrognathia, Decreased body weight OMIM:608747
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Atrioventricular canal defect, Coarctation of aorta, Hypoplastic left ... OMIM:615779
Mental Retardation, Autosomal Dominant 26
Highly arched eyebrow, Small for gestational age, Brachycephaly, Arthrogryposis multiplex congeni... OMIM:615834
Colchicine Poisoning
Myocarditis, Leukocytosis, Alopecia, Oliguria, Renal insufficiency ORPHA:31824
Sick Sinus Syndrome 4
Syncope, Abnormal QRS complex, Sinus bradycardia, Abnormal PR interval, Atrioventricular block, A... OMIM:619464
Pauci-Immune Glomerulonephritis
Macroscopic hematuria, Tubulointerstitial nephritis, Decreased glomerular filtration rate, Glomer... ORPHA:93126
Joubert Syndrome 30
Tachypnea, Seizure, Apnea OMIM:617622
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Plagiocephaly, Micrognathia, Brachycephaly, Long eyelashes, Unilambdoid synostosis, Seizure, Midf... OMIM:618577
Lissencephaly Syndrome, Norman-Roberts Type
Intrauterine growth retardation, Microlissencephaly, Primary microcephaly, 4-layered lissencephal... ORPHA:89844
Chronic Pneumonitis Of Infancy
Hypoxemia, Mediastinal lymphadenopathy, Tachypnea, Failure to thrive, Cough, Respiratory distress... ORPHA:91359
Infant Acute Respiratory Distress Syndrome
Tachycardia, Bradycardia, Pulmonary edema, Cardiac arrest, Hypotension ORPHA:70587
Hallermann-Streiff Syndrome
Sparse eyelashes, Iris coloboma, Sparse and thin eyebrow, Sparse hair, Fine hair, Hypertension, M... OMIM:234100
Mulibrey Nanism
Hepatomegaly, Pigmentary retinopathy, Pericardial constriction, Myocardial fibrosis, Microglossia... OMIM:253250
Fetal Trimethadione Syndrome
Hypospadias, Ventricular septal defect, Micrognathia, High palate, Brachycephaly, Transposition o... ORPHA:1913
Brain Small Vessel Disease 2
Intracranial hemorrhage OMIM:614483
Spondyloepiphyseal Dysplasia, Nishimura Type
Micrognathia, Cleft palate, High palate, Brachycephaly, Anterior plagiocephaly, Abnormality of cr... ORPHA:163649
Combined Deficiency Of Factor V And Factor Viii
Menorrhagia, Intracranial hemorrhage, Gingival bleeding, Prolonged prothrombin time, Joint hemorr... ORPHA:35909
Ethanolaminosis
Cardiomegaly OMIM:227150
Hyperparathyroidism, Neonatal Severe
Elevated circulating parathyroid hormone level, Hepatomegaly, Hyperphosphaturia, Aminoaciduria, T... OMIM:239200
19P13.12 Microdeletion Syndrome
Hypospadias, Ventricular septal defect, Cleft palate, Mitral regurgitation, Brachycephaly, Aortic... ORPHA:254346
Fetal And Neonatal Alloimmune Thrombocytopenia
Ecchymosis, Intracranial hemorrhage, Petechiae, Melena, Spontaneous hematomas, Cephalohematoma, G... ORPHA:853
Primary Angiitis Of The Central Nervous System
Intracranial hemorrhage, Transient ischemic attack, Stroke, Cerebral vasculitis ORPHA:140989
Hemophilia B
Intracranial hemorrhage, Joint hemorrhage, Spontaneous, recurrent epistaxis, Cephalohematoma, Pro... ORPHA:98879
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Left-to-right shunt, Abnormal aortic arch morphology, Ventricular septal defect, Abnormal descend... ORPHA:99050
Cardiac Arrhythmia, Ankyrin-B-Related
Syncope, Sinus bradycardia, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death OMIM:600919
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Flat occiput, Highly arched eyebrow, Ventricular septal defect, High palate, Brachycephaly, Failu... OMIM:617452
Mental Retardation, X-Linked, Syndromic 12
Mandibular prognathia, Seizure, Brachycephaly OMIM:309545
Camptodactyly Syndrome, Guadalajara Type 1
Highly arched eyebrow, High palate, Brachycephaly, Mandibular prognathia, Abnormality of dental e... ORPHA:1327
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Dilated cardiomyopathy, Syncope, Atrial standstill, Ventricular tachycardia, Atrioventricular blo... OMIM:604772
Cebalid Syndrome
Plagiocephaly, Highly arched eyebrow, High palate, Brachycephaly, Congenital diaphragmatic hernia... OMIM:618774
Romano-Ward Syndrome
Syncope, Sinus bradycardia, Abnormal T-wave, Ventricular arrhythmia, Torsade de pointes, Prolonge... ORPHA:101016
Encephalopathy Due To Prosaposin Deficiency
Dystonia, Hepatomegaly, Respiratory insufficiency, Bilateral tonic-clonic seizure, Myoclonus, Spl... ORPHA:139406
Koolen-De Vries Syndrome Due To A Point Mutation
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Cardiomyopathy, Pulm... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Cardiomyopathy, Pulm... ORPHA:363958
Cholesterol Pneumonia
Tachypnea, Cough, Pneumonia OMIM:215030
Muenke Syndrome
Plagiocephaly, High palate, Low anterior hairline, Brachycephaly, Seizure, Dental malocclusion, C... OMIM:602849
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Congenital hypothyroidism, Brachycephaly, Horizontal eyebrow, Seizure, Obesity, Generalized myocl... ORPHA:352530
2Q32Q33 Microdeletion Syndrome
Fine hair, Micrognathia, Cleft palate, High palate, Brachycephaly, Attention deficit hyperactivit... ORPHA:251019
Bacterial Toxic-Shock Syndrome
Sinusitis, Myocarditis, Shock, Increased circulating myelocyte count, Pneumonia, Glomerulonephrit... ORPHA:36234
Brugada Syndrome
Paroxysmal ventricular tachycardia, Syncope, Ventricular arrhythmia, Supraventricular tachycardia... ORPHA:130
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Bradycardia, Patent foramen ovale, Prolonged PR interval, Sick sinus s... ORPHA:542306
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Flat occiput, Highly arched eyebrow, Ventricular septal defect, Limb joint contracture, High pala... ORPHA:505237
Long Qt Syndrome 14
T-wave alternans, Sinus bradycardia, Prolonged QT interval, Atrioventricular block, Prolonged QTc... OMIM:616247
Ethylene Glycol Poisoning
Shock, Hypertension, Renal tubular dysfunction, Episodic respiratory distress, Prolonged QT inter... ORPHA:31826
Telangiectasia, Hereditary Hemorrhagic, Type 2
Spinal arteriovenous malformation, Spontaneous, recurrent epistaxis, Pulmonary arteriovenous malf... OMIM:600376
Congenital Factor X Deficiency
Menorrhagia, Subarachnoid hemorrhage, Gingival bleeding, Post-partum hemorrhage, Prolonged prothr... ORPHA:328
Paragangliomas 5
Paraganglioma OMIM:614165
Epilepsy, Familial Temporal Lobe, 1
Focal sensory seizure with visual features, Focal sensory seizure with olfactory features, Bilate... OMIM:600512
Mogs-Cdg
Hirsutism, Decreased circulating antibody level, Apnea, Seizure, Hepatosplenomegaly, Decreased ci... ORPHA:79330
Carnitine-Acylcarnitine Translocase Deficiency
Premature ventricular contraction, Ventricular tachycardia, Atrioventricular block, Ventricular h... OMIM:212138
Intellectual Developmental Disorder, X-Linked 72
Seizure, Hyperactivity, Dolichocephaly OMIM:300271
Bardet-Biedl Syndrome 8
Hypospadias, Brachycephaly, Renal dysplasia, Situs inversus totalis, Obesity OMIM:615985
Alagille Syndrome
Hepatomegaly, Ventricular septal defect, Abnormality of the ureter, Micrognathia, Nephrotic syndr... ORPHA:52
Cutis Laxa, Autosomal Recessive, Type Iiia
Athetosis, Corneal arcus, Large fontanelles, Brachycephaly, Failure to thrive, Wormian bones, Ing... OMIM:219150
Factor X Deficiency
Menorrhagia, Intracranial hemorrhage, Gingival bleeding, Prolonged prothrombin time, Joint hemorr... OMIM:227600
Common Variable Immunodeficiency
Failure to thrive in infancy, Gastrointestinal stroma tumor, Pneumonia, Brachycephaly, Lymphadeno... ORPHA:1572
Desanto-Shinawi Syndrome
Hirsutism, Brachycephaly, Astigmatism, Seizure, Thick eyebrow, Midface retrusion, Attention defic... OMIM:616708
Smith-Magenis Syndrome
Microcornea, Gait disturbance, Micrognathia, Abnormality of the ureter, Cleft palate, Failure to ... ORPHA:819
Pyruvate Carboxylase Deficiency
Dystonia, Hepatomegaly, Abnormal pattern of respiration, Lacticaciduria, Tachypnea, Infantile spa... ORPHA:3008
Cardiomyopathy, Dilated, 1E
Dilated cardiomyopathy, Syncope, Premature ventricular contraction, Atrial standstill, Atrial fib... OMIM:601154
Brachytelephalangic Chondrodysplasia Punctata
Central apnea, Neonatal respiratory distress, Ventricular septal defect, Tachypnea, Optic nerve h... ORPHA:79345
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Hypospadias, Renal cortical cysts, Micrognathia, Recurrent aspiration pneumonia, Tachypnea, Failu... ORPHA:397715
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Microangiopathic hemolytic anemia, Anuria, Hematuria, Anemia, Hemolytic-uremic syndrome, Acute ki... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Microangiopathic hemolytic anemia, Anuria, Hematuria, Anemia, Hemolytic-uremic syndrome, Acute ki... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Microangiopathic hemolytic anemia, Anuria, Hematuria, Anemia, Hemolytic-uremic syndrome, Acute ki... OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Microangiopathic hemolytic anemia, Anuria, Hematuria, Anemia, Hemolytic-uremic syndrome, Acute ki... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Microangiopathic hemolytic anemia, Anuria, Hematuria, Anemia, Hemolytic-uremic syndrome, Acute ki... OMIM:612926
Craniofrontonasal Dysplasia
Plagiocephaly, Hypospadias, High palate, Brachycephaly, Congenital diaphragmatic hernia, Craniosy... ORPHA:1520
Crouzon Syndrome
Conjunctivitis, Optic atrophy, Brachycephaly, Mandibular prognathia, Keratitis, Frontal bossing, ... OMIM:123500
Pontocerebellar Hypoplasia, Type 3
High, narrow palate, Optic atrophy, High palate, Brachycephaly, Seizure, Decreased body weight OMIM:608027
Distal Monosomy 10Q
Cleft palate, Patent ductus arteriosus, Enuresis, Micrognathia, High palate, Anal atresia, Fronta... ORPHA:96148
Distal Monosomy 12Q
Pyloric stenosis, Duodenal atresia, Microglossia, Patent ductus arteriosus, Micropenis, Diabetes ... ORPHA:96149
X-Linked Intellectual Disability Due To Gria3 Mutations
Macrodontia of permanent maxillary central incisor, Hydronephrosis, Bilateral tonic-clonic seizur... ORPHA:364028
Acromelic Frontonasal Dysostosis
Cleft palate, Brachycephaly, Upper airway obstruction, Seizure, Lipoma, Hypopituitarism, Cryptorc... OMIM:603671
Holoprosencephaly, Recurrent Infections, And Monocytosis
Monocytosis, Failure to thrive, Brachycephaly, Micropenis, Cryptorchidism OMIM:610680
Craniosynostosis And Dental Anomalies
Brachycephaly, Trigonocephaly, Craniosynostosis, Supernumerary tooth, Sagittal craniosynostosis, ... OMIM:614188
7Q11.23 Microduplication Syndrome
Hypospadias, Abnormality of the optic disc, Patent ductus arteriosus, Seizure, Unilateral renal a... ORPHA:96121
Thymic Neuroendocrine Tumor
Abnormal breath sound, Neuroendocrine neoplasm, Mediastinal lymphadenopathy, Calcium nephrolithia... ORPHA:97289
Congenital Alpha2-Antiplasmin Deficiency
Intracranial hemorrhage, Gingival bleeding, Joint hemorrhage, Persistent bleeding after trauma, A... ORPHA:79
Cardiomyopathy, Familial Hypertrophic, 4
Hypertrophic cardiomyopathy, Syncope, Pericardial effusion, Ascites, Ventricular hypertrophy, Atr... OMIM:115197
Cronkhite-Canada Syndrome
Generalized hyperpigmentation, Dystrophic toenail, Splenomegaly, Seizure, Stomach cancer, Neoplas... ORPHA:2930
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Contractures involving the joints of the feet, Hypoxemia, Hepatomegaly, Decreased motor nerve con... ORPHA:456312
Riddle Syndrome
Telangiectasia, Conjunctival telangiectasia, Intraventricular hemorrhage ORPHA:420741
Chromosome 2Q37 Deletion Syndrome
Highly arched eyebrow, Brachycephaly, Obesity, Subvalvular aortic stenosis, Seizure, Hyperactivit... OMIM:600430
Fucosidosis
Hepatomegaly, Mucopolysacchariduria, Abnormality of the gallbladder, Brachycephaly, Failure to th... ORPHA:349
Autism Spectrum Disorder Due To Auts2 Deficiency
Highly arched eyebrow, Micrognathia, Small for gestational age, Abnormal heart morphology, Joint ... ORPHA:352490
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cleft palate, Hypoplasia of the thymus, Apnea, Joint contracture of the hand, Seizure, Turricepha... OMIM:214110
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Atrial septal defect, Small for gestational age, Episodic tachypnea OMIM:615160
2Q23.1 Microdeletion Syndrome
Highly arched eyebrow, Brachycephaly, Hyperactivity, Ataxia, Generalized hirsutism, Cryptorchidis... ORPHA:228402
Vascular Hyalinosis
Vascular dilatation, Subarachnoid hemorrhage, Hematochezia OMIM:277175
Phosphoribosylpyrophosphate Synthetase Superactivity
Hypertension, Abnormal aortic morphology, Arrhythmia, Cardiomyopathy ORPHA:3222
Holocarboxylase Synthetase Deficiency
Tachypnea, Alopecia, Organic aciduria, Seizure, Thrombocytopenia, Hyperventilation, Lethargy OMIM:253270
Chopra-Amiel-Gordon Syndrome
Cleft palate, Brachycephaly, Unilateral renal agenesis, High anterior hairline, Midface retrusion... OMIM:619504
Joubert Syndrome 23
Tachypnea, Apnea OMIM:616490
Intellectual Developmental Disorder, Autosomal Dominant 23
Hypospadias, Micrognathia, Low anterior hairline, Brachycephaly, Astigmatism, Synophrys OMIM:615761
Craniosynostosis, Herrmann-Opitz Type
Micrognathia, Cleft palate, Brachycephaly, Craniosynostosis, Abnormality of the urethra, Turricep... ORPHA:2145
Morm Syndrome
Truncal obesity, Hyperactivity, Micropenis, Cataract, Abnormality of the kidney ORPHA:75858
Joubert Syndrome 1
Plagiocephaly, Highly arched eyebrow, Central apnea, Optic disc pallor, Hepatic fibrosis, Macrogl... OMIM:213300
Pseudo-Torch Syndrome 3
Cerebral hemorrhage, Hypertension, Cardiomegaly OMIM:618886
Tetanus
Hypertension, Elevated urinary epinephrine, Tachypnea, Bradycardia, Tachycardia, Respiratory dist... ORPHA:3299
Angelman Syndrome
Flat occiput, Blue irides, Brachycephaly, Mandibular prognathia, Macroglossia, Obesity, Progressi... OMIM:105830
Chromosome 6Pter-P24 Deletion Syndrome
Telangiectasia, Opacification of the corneal stroma, Ventricular septal defect, High palate, Post... OMIM:612582
48,Xxxy Syndrome
Carious teeth, Cleft palate, Type II diabetes mellitus, Brachycephaly, Mandibular prognathia, Azo... ORPHA:96263
Respiratory Distress Syndrome In Premature Infants
Neonatal respiratory distress, Tachypnea, Respiratory distress, Dyspnea, Atelectasis OMIM:267450
Incessant Infant Ventricular Tachycardia
Cardiac rhabdomyoma, Abnormal P wave, Histiocytoid cardiomyopathy, Ventricular tachycardia, Supra... ORPHA:45453
Menkes Disease
Intracranial hemorrhage, Intrauterine growth retardation OMIM:309400
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Menorrhagia, Intracranial hemorrhage, Epidural hemorrhage, Post-partum hemorrhage, Joint hemorrha... ORPHA:465
Congenital Heart Defects, Multiple Types, 2
Myxomatous mitral valve degeneration, Bicuspid aortic valve, Ventricular septal defect, Atrial fi... OMIM:614980
Trisomy 20P
Hypospadias, Abnormal localization of kidney, Camptodactyly of finger, Low posterior hairline, Um... ORPHA:261318
Mental Retardation, X-Linked, With Craniofacial Dysmorphism
Plagiocephaly, Frontal bossing, Brachycephaly OMIM:300064
Neuraminidase Deficiency
Hepatomegaly, Dysmetria, Vacuolated lymphocytes, Myoclonus, Bone-marrow foam cells, Cardiomyopath... OMIM:256550
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Congenital megaureter, Patent ductus arteriosus, Decreased circulating total IgM, Hypercalciuria,... ORPHA:369837
3P25.3 Microdeletion Syndrome
Pyloric stenosis, High, narrow palate, Ventricular septal defect, Micrognathia, Cleft palate, Bil... ORPHA:435638
Insulinomatosis And Diabetes Mellitus
Multiple pancreatic beta-cell adenomas, Developmental cataract, Hyperinsulinemic hypoglycemia, Di... OMIM:147630
Aapoaiv Amyloidosis
Abnormal cardiac ventricular function, Hypertension, Hypertrophic cardiomyopathy, Cardiac amyloid... ORPHA:439232
Pulmonary Alveolar Microlithiasis
Testicular microlithiasis, Restrictive ventilatory defect, Hypoxemia, Right ventricular failure, ... ORPHA:60025
Beckwith-Wiedemann Syndrome
Omphalocele, Cleft palate, Congenital megaureter, Splenomegaly, Facial hemangioma, Sleep apnea, N... ORPHA:116
Craniosynostosis 2
Brachyturricephaly, Brachycephaly, Trigonocephaly, Cleft soft palate, Craniosynostosis, Supernume... OMIM:604757
Kleefstra Syndrome
Hypospadias, Bicuspid aortic valve, Pyloric stenosis, Delayed eruption of teeth, Seizure, Micrope... ORPHA:261494
Sick Sinus Syndrome 2
Sinus bradycardia, Mitral valve prolapse, Atrial fibrillation, Aortic regurgitation, Left ventric... OMIM:163800
Hypoplastic Left Heart Syndrome 1
Hypoplastic left heart, Coarctation of aorta, Aortic valve stenosis OMIM:241550
Glycogen Storage Disease Of Heart, Lethal Congenital
Biventricular hypertrophy, Ascites, Cardiomegaly, Cardiomyopathy, Bradycardia, Pulmonary edema, C... OMIM:261740
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypoxemia, Decreased urine output, Reduced ejection fraction, Tachypnea, Tachycardia, Heart block... ORPHA:542323
Pseudodiastrophic Dysplasia
Micrognathia, Brachycephaly, Failure to thrive, Frontal bossing, Camptodactyly, Midface retrusion OMIM:264180
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Cardiomyopathy, Bradycardia, Arrhythmia OMIM:609286
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Atrioventricular block, Bradycardia OMIM:614407
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Hypospadias, Gait disturbance, Lactose intolerance, Intestinal polyp, Hypopigmented skin patches,... ORPHA:457485
Acitretin/Etretinate Embryopathy
Atrioventricular canal defect, Conotruncal defect, Third degree atrioventricular block, Bradycardia ORPHA:40366
Hyperphosphatasia-Intellectual Disability Syndrome
Plagiocephaly, Gait disturbance, Abnormal parietal bone morphology, Telangiectasia, Shallow anter... ORPHA:247262
Familial Thyroid Dyshormonogenesis
Bradycardia, Facial edema, Umbilical hernia ORPHA:95716
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Paroxysmal ventricular tachycardia, Syncope, Premature ventricular contraction, Prolonged QT inte... OMIM:614021
Glutamine Deficiency, Congenital
Neonatal death, Bradycardia OMIM:610015
Sick Sinus Syndrome 1
Sinus bradycardia, Prolonged QT interval, Ventricular escape rhythm, Atrioventricular block, Abse... OMIM:608567
Aorta Coarctation
Hypertension, Bicuspid aortic valve, Coarctation of the descending aortic arch, Persistent left s... ORPHA:1457
Galactose Epimerase Deficiency
Hepatomegaly, Weight loss, Splenomegaly, Cataract, Aminoaciduria, Jaundice ORPHA:79238
Scimitar Syndrome
Left-to-right shunt, Truncus arteriosus, Mitral atresia, Single ventricle, Patent ductus arterios... ORPHA:185
Treacher-Collins Syndrome
Cleft palate, Abnormal hair morphology, Thyroid hypoplasia, Hypoplasia of the thymus, Abnormal de... ORPHA:861
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Postnatal growth retardation, Large placenta, Umbilical hernia, Polyhydramnios ORPHA:254534
Joubert Syndrome 2
Central apnea, High palate, Failure to thrive, Abnormal renal physiology, Nephronophthisis, Renal... OMIM:608091
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities
Plagiocephaly, High palate, Cleft palate, Brachycephaly, Failure to thrive, Seizure, Inguinal hernia OMIM:618603
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism
Woolly scalp hair, Bilateral tonic-clonic seizure, Hypergonadotropic hypogonadism, Alopecia, Seiz... OMIM:601217
Oculodentodigital Dysplasia, Autosomal Recessive
Macrodontia of permanent maxillary central incisor, Fine hair, Persistent pupillary membrane, Mic... OMIM:257850
Kohlschutter-Tonz Syndrome-Like
Carious teeth, Lactose intolerance, Delayed eruption of teeth, Seizure, Focal-onset seizure, Decr... OMIM:619229
Aortic Aneurysm, Familial Thoracic 9
Mitral valve prolapse, Atrial fibrillation, Aortic tortuosity, Ascending aortic dissection, Thora... OMIM:616166
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities
High anterior hairline, Seizure, Brachycephaly OMIM:618859
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Plagiocephaly, Brachycephaly, Macroglossia, Frontal bossing, Ataxia, Transposition of the great a... OMIM:616789
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Abnormal heart morphology, Double outlet right ventricle, Coarctation of aorta, Patent ductus art... OMIM:618164
Chromosome 5P13 Duplication Syndrome
High palate, Small for gestational age, Brachycephaly, Low posterior hairline, Craniosynostosis, ... OMIM:613174
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Bradycardia, Umbilical hernia ORPHA:226313
Scorpion Envenomation
Mydriasis, Myocarditis, Prominent U wave, Cardiac conduction abnormality, ST segment depression, ... ORPHA:466677
Down Syndrome
Gait disturbance, Aganglionic megacolon, Brachycephaly, Macroglossia, Anal atresia, Renal hypopla... ORPHA:870
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypospadias, Hypertrophic cardiomyopathy, Hydronephrosis, Ventricular septal defect, Micrognathia... OMIM:616897
Acquired Purpura Fulminans
Shock, Intracranial hemorrhage, Macular purpura, Prolonged prothrombin time, Internal hemorrhage ORPHA:49566
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Highly arched eyebrow, Ventricular septal defect, Micrognathia, Cleft palate, Febrile seizure (wi... ORPHA:404440
Craniodigital-Intellectual Disability Syndrome
Micrognathia, Brachycephaly, Long eyelashes, Abnormal hair pattern, Thick hair, Thick eyebrow, Ge... ORPHA:1514
Osteogenesis Imperfecta, Type Xii
Brachyturricephaly, Micrognathia, High palate, Wormian bones, Delayed eruption of teeth, Midface ... OMIM:613849
Acrodysostosis 2 With Or Without Hormone Resistance
Blue irides, Hypospadias, Congenital hypothyroidism, Mandibular prognathia, Obesity, Hyperactivit... OMIM:614613
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Hirsutism, Coarse hair, Cardiomegaly, Dense calvaria, Splenomegaly, Hyperactivity, ... OMIM:252920
Oculocerebrofacial Syndrome, Kaufman Type
Flat occiput, High, narrow palate, Micrognathia, Optic atrophy, Thin eyebrow, Brachycephaly, Fail... ORPHA:2707
Long Qt Syndrome 9
Sinus bradycardia, Prolonged QT interval, Cardiac arrest, Ventricular arrhythmia OMIM:611818
Glycogen Storage Disease Ic
Hepatomegaly, Focal segmental glomerulosclerosis, Hepatocellular carcinoma, Hematuria, Decreased ... OMIM:232240
Acquired Von Willebrand Syndrome
Menorrhagia, Intracranial hemorrhage, Mitral regurgitation, Prolonged prothrombin time, Aortic re... ORPHA:99147
Peroxisome Biogenesis Disorder 12A (Zellweger)
Renal tubular dysfunction, Abnormality of the hairline, Cranial asymmetry, Delayed closure of the... OMIM:614886
Serotonin Syndrome
Mydriasis, Hypertension, Tachypnea, Myoclonus, Tachycardia, Seizure, Acute kidney injury, Hyperhi... ORPHA:43116
Hemochromatosis, Type 1
Testicular atrophy, Telangiectasia, Hepatomegaly, Hepatocellular carcinoma, Azoospermia, Hyperpig... OMIM:235200
Chromosome 10Q26 Deletion Syndrome
Micrognathia, Small for gestational age, Craniosynostosis, Patent ductus arteriosus, Frontal boss... OMIM:609625
Pde4D Haploinsufficiency Syndrome
Hypospadias, Elevated circulating parathyroid hormone level, Micrognathia, Thickened calvaria, Br... ORPHA:439822
Fructose-1,6-Bisphosphatase Deficiency
Apneic episodes in infancy, Hepatomegaly, Tachycardia, Episodic tachypnea, Seizure, Respiratory d... ORPHA:348
Glossopharyngeal Neuralgia
Syncope, Jaw claudication, Vascular dilatation, Bradycardia ORPHA:221098
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Hypospadias, High palate, Tonic seizure, Brachycephaly, Poor eye contact, Seizure, Ataxia, Inabil... OMIM:300260
49,Xxxxy Syndrome
Carious teeth, Shyness, Cleft palate, Type II diabetes mellitus, Brachycephaly, Mandibular progna... ORPHA:96264
Sweeney-Cox Syndrome
Micrognathia, Cleft palate, High palate, Asplenia, Brachycephaly, Anal atresia, Wide anterior fon... OMIM:617746
Congenital Heart Defects, Multiple Types, 6
Complete atrioventricular canal defect, Ventricular septal defect, Double outlet right ventricle,... OMIM:613854
Congenital Toxoplasmosis
Hepatomegaly, Abnormality of retinal pigmentation, Failure to thrive in infancy, Lymphadenopathy,... ORPHA:858
Kleefstra Syndrome 1
Hypospadias, Conotruncal defect, Tracheobronchomalacia, Brachycephaly, Mandibular prognathia, Mac... OMIM:610253
Surfactant Metabolism Dysfunction, Pulmonary, 2
Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Nonspecific interstitial pneumoni... OMIM:610913
Peripartum Cardiomyopathy
Dilated cardiomyopathy, Right ventricular failure, Myocarditis, Left atrial enlargement, Abnormal... ORPHA:563
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Leukocytosis, Hemoglobinuria, Rectal prolapse, Schistocytosis, Microangiopathic hemolytic anemia,... ORPHA:90038
Noonan Syndrome With Multiple Lentigines
Hypertrophic cardiomyopathy, Hypospadias, Neuroblastoma, Abnormal endocardium morphology, Mitral ... ORPHA:500
Maternal Uniparental Disomy Of Chromosome 1
Hepatomegaly, Delayed closure of the anterior fontanelle, Failure to thrive, Ataxia, Panhypogamma... ORPHA:251009
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Plagiocephaly, Failure to thrive in infancy, Cachexia, Hip contracture, Brachycephaly, Frontal bo... OMIM:616801
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Dilated cardiomyopathy, Syncope, Pericardial effusion, Ventricular arrhythmia, Atrial fibrillatio... ORPHA:300751
Cerebellar Ataxia-Hypogonadism Syndrome
Brachycephaly, Hypogonadotropic hypogonadism, Abnormality of the hypothalamus-pituitary axis, Hyp... ORPHA:1173
Progeria-Short Stature-Pigmented Nevi Syndrome
Hypospadias, Insulin-resistant diabetes mellitus, Micropenis, Premature ovarian insufficiency, Lo... ORPHA:2959
Methylmalonic Aciduria And Homocystinuria, Cblx Type
Athetosis, Methylmalonic aciduria, Brachycephaly, Failure to thrive, Homocystinuria OMIM:309541
Absence Of The Pulmonary Artery
Truncus arteriosus, Abnormal coronary artery morphology, Patent ductus arteriosus, Abnormal infer... ORPHA:980
Martsolf Syndrome 1
Developmental cataract, Micrognathia, High palate, Low anterior hairline, Brachycephaly, Hypogona... OMIM:212720
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Flat occiput, Shagreen patch, Large fontanelles, Brachycephaly, Mandibular prognathia, Delayed cr... ORPHA:2511
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Anomalous branches of internal carotid artery, Patent ductus arteriosus, G... ORPHA:363705
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, Bradycardia, Stroke-like episode OMIM:619272
Cartilage-Hair Hypoplasia
Fine hair, Macrocytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Agangli... OMIM:250250
Osteopathia Striata-Cranial Sclerosis Syndrome
Flat occiput, High, narrow palate, Micrognathia, Cleft palate, Thickened calvaria, Large fontanel... ORPHA:2780
Renal Tubular Dysgenesis
Widely patent fontanelles and sutures, Renotubular dysgenesis, Abnormality of the urinary system,... OMIM:267430
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Bilateral tonic-clonic seizure, Small for gestational age, Focal impaired awareness seizure, Seiz... OMIM:245570
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies
Plagiocephaly, Brachycephaly, Mandibular prognathia, Low posterior hairline, Prominent occiput, D... OMIM:618672
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertension, Hepatomegaly, Myoclonus, Reduced subcutaneous adipose tissue, Reduced intraabdomina... ORPHA:363400
Salt And Pepper Developmental Regression Syndrome
Optic atrophy, Bilateral tonic-clonic seizure, Abnormality of skin pigmentation, Failure to thriv... OMIM:609056
Alg9-Cdg
Omphalocele, Hypoplastic nipples, Torticollis, Abnormal left ventricular outflow tract morphology... ORPHA:79328
Aortic Arch Interruption
Bicuspid aortic valve, Truncus arteriosus, Single ventricle, Patent ductus arteriosus, Intermitte... ORPHA:2299
Hemimegalencephaly
Optic atrophy, Cranial asymmetry, Focal tonic seizure, Myoclonus, Gliosis, Focal motor seizure, S... ORPHA:99802
Abeta Amyloidosis, Dutch Type
Cerebral hemorrhage, Stroke ORPHA:100006
Acrodysostosis 1 With Or Without Hormone Resistance
Blue irides, Elevated circulating parathyroid hormone level, Congenital hypothyroidism, Small for... OMIM:101800
Tricuspid Atresia
Ventricular septal defect, Tricuspid atresia, Hypoplasia of right ventricle, Persistent left supe... ORPHA:1209
Cardiomyopathy, Dilated, 1S
Dilated cardiomyopathy, Bicuspid aortic valve, Ventricular arrhythmia, Coarctation of aorta, Pulm... OMIM:613426
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures