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Gene: Vegfa MGI:103178

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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:
vascular endothelial growth factor A
Synonyms:
VEGF164,  VPF,  VEGF-A,  VEGF188,  Vegf,  VEGF120

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 Vegfa mutations

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

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

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

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Charcot-Marie-Tooth Disease Type 2B1
Decreased motor nerve conduction velocity, Proximal amyotrophy, Motor axonal neuropathy, Axonal d... ORPHA:98856
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Onion bulb formation, Decreased motor nerve conduction velocity, Axonal degeneration, Paraparesis... OMIM:302800
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Gowers sign, Proximal muscle weakness, Frequent falls, Progressive distal muscular atrophy, Respi... OMIM:159950
Pancytopenia And Occlusive Vascular Disease
Leukopenia, Anemia, Pancytopenia, Thrombocytopenia, Peripheral arterial stenosis OMIM:167850
Ethanolaminosis
Cardiomegaly OMIM:227150
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Pulmonic stenosis, Right aortic arch, Aortopulmonary collateral a... OMIM:618780
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormality of blood circulation, Abnormal coronary artery morphology, Levotransposition of the g... ORPHA:860
Heterotaxy, Visceral, 4, Autosomal
Right aortic arch, Ventricular septal defect, Atrioventricular canal defect, Dextrocardia OMIM:613751
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Prolonged brainstem au... OMIM:601596
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Axonal degeneration/re... OMIM:614436
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Gait disturbance, Pelvic girdle muscle weakness, Myopathy, Temporal cortical atrophy, Dystonia, P... OMIM:167320
Amyotrophic Lateral Sclerosis 4, Juvenile
Babinski sign, Clonus, Peripheral axonal degeneration, Diffuse axonal swelling, Pallor of dorsal ... OMIM:602433
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Truncus arteriosus, Coarctation of aorta, Patent ductus arteriosus, Transp... OMIM:612474
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Proximal amyotrophy, Gait disturbance, Proximal muscle weakness, Hand tremor, Gliosis, Axonal deg... OMIM:604484
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Abnormality of the vertebral column, Abnormal motor neuron morphology, Short stature, Motor axona... ORPHA:52430
Familial Infantile Bilateral Striatal Necrosis
Atrophy/Degeneration involving the caudate nucleus, Lower limb muscle weakness, Gait disturbance,... ORPHA:225154
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Babinski sign, Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Limb muscle weak... OMIM:613954
Pseudoxanthoma Elasticum
Hypertension, Abnormal endocardium morphology, Mitral valve prolapse, High palate, Angina pectori... ORPHA:758
Genitopalatocardiac Syndrome
Right aortic arch, Double outlet right ventricle, Ventricular septal defect, Transposition of the... OMIM:231060
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Amegakaryocytic Thrombocytopenia, Congenital
Pancytopenia, Thrombocytopenia, Megakaryocytopenia, Amegakaryocytic thrombocytopenia OMIM:604498
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Left ventricular noncompaction, Endocardial fibrosis, Left ventricular hy... OMIM:601493
Atrioventricular Septal Defect, Susceptibility To, 2
Dextrocardia, Atrioventricular canal defect, Right aortic arch with mirror image branching, Pulmo... OMIM:606217
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Macular coloboma, Coarctation of aorta, Retinal coloboma OMIM:107550
Myopathy And Diabetes Mellitus
Proximal amyotrophy, Babinski sign, Pelvic girdle muscle weakness, Peripheral axonal neuropathy, ... ORPHA:2596
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615396
Mitochondrial Dna Depletion Syndrome 18
Proximal muscle weakness, Clonus, Weakness of facial musculature, Distal amyotrophy, Failure to t... OMIM:618811
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Pelvic girdle muscle weakness, Generalized muscle weakness, Exertional dyspnea, Decreased cervica... ORPHA:254361
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Babinski sign, Dystonia, Cerebellar atrophy, Skeletal muscle atrophy, Dysmetria, Neurodegeneratio... OMIM:615157
Emanuel Syndrome
Cleft palate, Truncus arteriosus, Broad jaw, Patent ductus arteriosus, Micropenis, Recurrent resp... OMIM:609029
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Proximal muscle weakness in lower limbs, Gowers sign, Neck flexor weakness, Internally nucleated ... OMIM:618138
Congenital Tracheomalacia
Wheezing, Neonatal respiratory distress, Apnea, Single ventricle, Patent ductus arteriosus, Decre... ORPHA:95430
Acute Erythroid Leukemia
Pancytopenia, Leukopenia, Anemia, Bone marrow hypocellularity, Erythroid hypoplasia, Bone marrow ... ORPHA:318
Cardiomyopathy, Dilated, 1R
Dilated cardiomyopathy, Restrictive cardiomyopathy, Left ventricular noncompaction, Left ventricu... OMIM:613424
Juvenile Amyotrophic Lateral Sclerosis
Oromandibular dystonia, Contractures of the joints of the upper limbs, Proximal muscle weakness, ... ORPHA:300605
Pseudoxanthoma Elasticum
Hypertension, Mitral valve prolapse, Accelerated atherosclerosis, Retinal hemorrhage, Renovascula... OMIM:264800
Charcot-Marie-Tooth Disease, Type 4A
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Hypertrophic nerve cha... OMIM:214400
22Q11.2 Duplication Syndrome
Interrupted aortic arch, Micrognathia, Hydronephrosis, Ventricular septal defect, Cleft palate, U... ORPHA:1727
Emanuel Syndrome
Cleft palate, Truncus arteriosus, Redundant neck skin, Broad jaw, Delayed eruption of teeth, Pate... ORPHA:96170
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Diaphragmatic paralysis, Peripheral axonal degeneration, Inspiratory stridor, Intrauterine growth... OMIM:604320
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Skeletal muscle atrophy, Neuronal loss in central nervous system, Amyotrophic lateral sclerosis, ... OMIM:105550
Pontocerebellar Hypoplasia, Type 1A
Respiratory insufficiency, Fasciculations, Basal ganglia gliosis, Degeneration of anterior horn c... OMIM:607596
Mucopolysaccharidosis-Plus Syndrome
Neutropenia, Patent ductus arteriosus, Splenomegaly, Low posterior hairline, Recurrent respirator... OMIM:617303
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Peripheral axonal degeneration, Dystonia, Cerebellar atrophy, Progressive external ophthalmoplegi... OMIM:208920
Spinal Muscular Atrophy, Type Ii
Skeletal muscle atrophy, Hand tremor, Muscle weakness, Tongue fasciculations, Spinal muscular atr... OMIM:253550
Oculopharyngodistal Myopathy
Fatigable weakness of bulbar muscles, Abnormal morphology of musculature of pharynx, Proximal mus... ORPHA:98897
Cockayne Syndrome
Carious teeth, Limb hypertonia, Abnormal renal physiology, Progressive gait ataxia, Splenomegaly,... ORPHA:191
Monomelic Amyotrophy
Distal upper limb amyotrophy, Fasciculations, Tremor, Muscle weakness, Abnormality of peripheral ... ORPHA:65684
Spinal Muscular Atrophy, Type Iii
Proximal muscle weakness, Skeletal muscle atrophy, Limb fasciculations, Hand tremor, Muscle weakn... OMIM:253400
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Abnormal aortic morphology, Ventricular septal defect, Truncus arteriosus, Webbed neck, Short neck ORPHA:2516
Arts Syndrome
Optic atrophy, Death in infancy, Growth delay, Progressive muscle weakness, Spinal cord posterior... OMIM:301835
Inherited Creutzfeldt-Jakob Disease
Clumsiness, Global brain atrophy, Spastic hemiparesis, Abnormal pyramidal sign, Progressive extra... ORPHA:282166
Cayler Cardiofacial Syndrome
Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus OMIM:125520
Aapoaiv Amyloidosis
Abnormal cardiac ventricular function, Hyperlipidemia, Cardiac conduction abnormality, Diabetes m... ORPHA:439232
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Gait disturbance, Proximal muscle weakness, Steppage gait, Axonal degeneration, Distal sensory im... OMIM:616155
Amyotrophic Lateral Sclerosis 2, Juvenile
Babinski sign, Dystonia, Upper limb spasticity, Spastic gait, Amyotrophic lateral sclerosis, Spas... OMIM:205100
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Hypospadias, Bicuspid aortic valve, Neonatal respiratory distress, Cleft palate, Dysplastic tricu... OMIM:265380
Nephrotic Syndrome, Type 11
Dilated cardiomyopathy, Renal tubular atrophy, Micrognathia, Focal segmental glomerulosclerosis, ... OMIM:616730
Timothy Syndrome
Ventricular septal defect, Prolonged QT interval, Microdontia, Pneumonia, Cardiomegaly, Bradycard... OMIM:601005
Double Outlet Right Ventricle
Ventricular septal defect, Cleft palate, Truncus arteriosus, Hypoparathyroidism, Tachypnea, Doubl... ORPHA:3426
Microphthalmia, Syndromic 9
Truncus arteriosus, Single ventricle, Patent ductus arteriosus, Bilateral lung agenesis, Microgna... OMIM:601186
Cockayne Syndrome Type 3
Carious teeth, Subdural hemorrhage, Aortic root aneurysm, Premature coronary artery atheroscleros... ORPHA:90324
Alpha-B Crystallin-Related Late-Onset Myopathy
Progressive distal muscle weakness, Facial diplegia, Autophagic vacuoles, Respiratory insufficien... ORPHA:399058
Galloway-Mowat Syndrome 7
Dilated cardiomyopathy, Renal tubular atrophy, Micrognathia, Focal segmental glomerulosclerosis, ... OMIM:618348
Spinal Muscular Atrophy, Type Iv
Proximal amyotrophy, Proximal muscle weakness, Hand tremor, Tongue fasciculations, Spinal muscula... OMIM:271150
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Patent ductus arteriosu... OMIM:604169
14Q24.1Q24.3 Microdeletion Syndrome
Ventricular septal defect, Smooth philtrum, Truncus arteriosus, Midface retrusion, Long philtrum,... ORPHA:401935
Congenital Heart Defects, Multiple Types, 6
Complete atrioventricular canal defect, Ventricular septal defect, Double outlet right ventricle,... OMIM:613854
Desminopathy
Thoracic kyphoscoliosis, Concentric hypertrophic cardiomyopathy, Fatigable weakness of bulbar mus... ORPHA:98909
Amyotrophic Lateral Sclerosis 5, Juvenile
Babinski sign, Respiratory insufficiency due to muscle weakness, Amyotrophic lateral sclerosis, F... OMIM:602099
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Decreased motor nerve conduction velocity, Babinski sign, Peripheral axonal degeneration, Short s... OMIM:604168
Autoimmune Hypoparathyroidism
Autoimmune hypoparathyroidism, Hyperphosphatemia, Hypocalcemic tetany, Prolonged QT interval, Ven... ORPHA:36913
Thymic Aplasia With Fetal Death
Truncus arteriosus, Stillbirth OMIM:274210
Velocardiofacial Syndrome
Interrupted aortic arch, Ventricular septal defect, Cleft palate, Hypoparathyroidism, Pierre-Robi... OMIM:192430
Ciliary Dyskinesia, Primary, 37
Right aortic arch, Situs inversus totalis, Infertility, Dextrocardia OMIM:617577
Congenitally Corrected Transposition Of The Great Arteries
Third degree atrioventricular block, Cardiac conduction abnormality, Single ventricle, Double out... ORPHA:216694
Vocal Cord And Pharyngeal Distal Myopathy
Abnormal morphology of musculature of pharynx, Amyotrophic lateral sclerosis, Distal upper limb a... ORPHA:600
Waldenström Macroglobulinemia
Leukemia, Lymphadenopathy, Splenomegaly, Gastrointestinal hemorrhage, Vasculitis, Cutis marmorata... ORPHA:33226
Gitelman Syndrome
Prominent U wave, Syncope, Tubulointerstitial nephritis, ST segment depression, Raynaud phenomeno... ORPHA:358
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Endocardial fibroelastosis, Cardiomyocyte hypertrop... OMIM:612158
Cocaine Intoxication
Wheezing, Tubulointerstitial nephritis, Ventricular arrhythmia, Pulmonary edema, Reduced consciou... ORPHA:90068
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Gait disturbance, Proximal muscle weakness, Ragged-red muscle fibers, Progressive external ophtha... OMIM:609286
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Truncus arteriosus, Double outlet right ventricle, Coarct... OMIM:217095
Marinesco-Sjogren Syndrome
Myopathy, Skeletal muscle atrophy, Short stature, Hypergonadotropic hypogonadism, Failure to thri... OMIM:248800
Structural Heart Defects And Renal Anomalies Syndrome
Interrupted aortic arch, Ventricular septal defect, Death in infancy, Truncus arteriosus, Tricusp... OMIM:617478
Schimke Immuno-Osseous Dysplasia
Decreased proportion of naive CD8 T cells, Abnormal intestine morphology, Neutropenia, Hyperlipid... ORPHA:1830
Myopathy, Scapulohumeroperoneal
Skeletal muscle atrophy, Neck flexor weakness, Wrist drop, Progressive muscle weakness, Achilles ... OMIM:616852
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Gait disturbance, Weakness of the intrinsic hand muscles, Wrist drop, Cardiomyopathy, Heart block... ORPHA:98912
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypospadias, Cleft palate, Patent ductus arteriosus, Micropenis, Broad skull, Cerebellar hypoplas... ORPHA:163979
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Micrognathia, High palate, Persistent left superior vena cava, Double outlet right ventricle, Pat... ORPHA:3304
Bone Marrow Failure Syndrome 1
Pancytopenia, Aplastic anemia, Bone marrow hypocellularity OMIM:614675
22Q11.2 Deletion Syndrome
Carious teeth, Hypospadias, Cleft palate, Truncus arteriosus, Thrombocytopenia, Hypoplasia of the... ORPHA:567
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Hypersplenism, Decreased helper T cell proportion, Splenomegaly OMIM:183350
Tropical Endomyocardial Fibrosis
Left atrial enlargement, Splenomegaly, Abnormal EKG, Eosinophilia, Abnormal P wave, Reduced eject... ORPHA:75565
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Secondary amenorrhea, Muscle fiber necrosis, Premature ovarian insufficiency, Bradykinesia, Prima... OMIM:157640
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Left ventricular noncompaction, Abnormal left ventricle morphology OMIM:615373
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Webbed neck, Ventricular septal defect, Truncus arteriosus OMIM:601355
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Retinal arteriolar tortuosity, Dilatation of the cerebral artery, Hematuria, Renal cyst, Raynaud ... OMIM:611773
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Myopathy, Failure to thrive in infancy, Skeletal muscle atrophy, Respiratory insufficiency, Weakn... ORPHA:254875
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Increased mean corpuscular volume, Thrombocytopenia, Anemia, Bone marrow hypocellula... OMIM:619041
Spinal Muscular Atrophy, X-Linked 2
Myopathy, Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Facial pal... OMIM:301830
Kallmann Syndrome-Heart Disease Syndrome
Dilated cardiomyopathy, Pulmonary insufficiency, Midgut malrotation, Renal agenesis, Cleft palate... ORPHA:2326
Amyotrophic Lateral Sclerosis 1
Degeneration of the lateral corticospinal tracts, Skeletal muscle atrophy, Pseudobulbar paralysis... OMIM:105400
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Paresthesia, Abnormality of the spinal cord, Quadriceps muscle weakness, Somatic sensory dysfunct... ORPHA:99947
Immunodeficiency 16
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly OMIM:615593
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hypospadias, Ethylmalonic aciduria, Apnea, Increased intramyocellular lipid droplets, Patent duct... ORPHA:17
Cleft-Limb-Heart Malformation Syndrome
Truncus arteriosus OMIM:215850
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Carious teeth, Hypospadias, Bicuspid aortic valve, Cardiac conduction abnormality, Patent ductus ... ORPHA:353281
Sporadic Creutzfeldt-Jakob Disease
Babinski sign, Recurrent aspiration pneumonia, Neuronal loss in central nervous system, Myoclonus... ORPHA:204
Acquired Idiopathic Sideroblastic Anemia
Leukocytosis, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythroid hyperplasia... ORPHA:75564
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Onion bulb formation, Peripheral axonal degeneration, Distal amyotrophy, Axonal degeneration, Dis... OMIM:606482
Heterotaxy, Visceral, 7, Autosomal
Interrupted aortic arch, Interrupted inferior vena cava with azygous continuation, Dextrocardia, ... OMIM:616749
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Babinski sign, Proximal muscle weakness, Amyotrophic lateral sclerosis, Ataxia, Bulbar palsy, Par... OMIM:615911
Andersen-Tawil Syndrome
Dilated cardiomyopathy, Syncope, Prominent U wave, Renal tubular dysfunction, Ventricular arrhyth... ORPHA:37553
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Renal hypoplasia, Micrognathia, Ventricular septal defect, Truncus arteriosus, Respiratory insuff... OMIM:228940
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Cleft palate, Neutropenia, Hypoplasia of the thymus, Patent ductus arteriosus, Splenomegaly, Eryt... OMIM:612541
Pseudoxanthoma Elasticum, Forme Fruste
Cerebral hemorrhage, High, narrow palate, High palate, Mitral valve prolapse, Retinal hemorrhage,... OMIM:177850
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Vascular ring, Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Overrid... OMIM:601927
Truncus Arteriosus
Truncus arteriosus, Abnormal coronary artery morphology, Hypoplasia of the thymus, Patent ductus ... ORPHA:3384
Laing Early-Onset Distal Myopathy
Dilated cardiomyopathy, Proximal muscle weakness in lower limbs, Abnormal mitochondria in muscle ... ORPHA:59135
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Abnormal aortic arch morphology, Ventricular septal defect, Abnormal descending aorta morphology,... ORPHA:99050
Fixed Subaortic Stenosis
Syncope, Bicuspid aortic valve, Patent ductus arteriosus, Exertional dyspnea, Ventricular septal ... ORPHA:3092
Absence Of The Pulmonary Artery
Truncus arteriosus, Abnormal coronary artery morphology, Patent ductus arteriosus, Abnormal infer... ORPHA:980
Schimke Immunoosseous Dysplasia
Abnormal T cell morphology, Hypertension, Focal segmental glomerulosclerosis, Neutropenia, Microd... OMIM:242900
Johnson Neuroectodermal Syndrome
Carious teeth, Ventricular septal defect, Cleft palate, Hypogonadotropic hypogonadism, Facial pal... OMIM:147770
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Left ventricular noncompaction, Left ventricular hypertrophy OMIM:601494
Amyotrophic Lateral Sclerosis 8
Postural tremor, Proximal muscle weakness, Skeletal muscle atrophy, Progressive muscle weakness, ... OMIM:608627
Catel-Manzke Syndrome
Dextrocardia, Micrognathia, Ventricular septal defect, Cleft palate, High palate, Cleft upper lip... OMIM:616145
Crimean-Congo Hemorrhagic Fever
Myocarditis, Adrenal insufficiency, Thrombocytopenia, Subdural hemorrhage, Lymphadenopathy, Melen... ORPHA:99827
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Fasciculations, Muscle weakness, Abnormal... OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Fasciculations, Muscle weakness, Abnormal... OMIM:616437
Williams Syndrome
Gait imbalance, Abnormal dental enamel morphology, Patent ductus arteriosus, Recurrent respirator... ORPHA:904
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Paralysis, Amyotrophic lateral sclerosis, Muscle weakness, Abnormal lower motor neuron morphology... OMIM:105500
3-Methylglutaconic Aciduria, Type V
Dilated cardiomyopathy, Optic atrophy, Hypospadias, Prolonged QT interval, Noncompaction cardiomy... OMIM:610198
Generalized Arterial Calcification Of Infancy
Abnormal hip joint morphology, Abnormality of the knee, Choroidal neovascularization, Medullary n... ORPHA:51608
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Decreased muscle mass, Peripheral axonal neuropathy, Respiratory insufficiency, Vocal cord paraly... OMIM:615490
Finnish Upper Limb-Onset Distal Myopathy
Clumsiness, Weakness of the intrinsic hand muscles, Progressive distal muscle weakness, Steppage ... ORPHA:399086
Infantile-Onset X-Linked Spinal Muscular Atrophy
Inflammatory myopathy, Interphalangeal joint contracture of finger, Abnormal muscle fiber morphol... ORPHA:1145
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Carious teeth, Decreased muscle mass, Dandy-Walker malformation, Smooth philtrum, High palate, Su... ORPHA:357074
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Hypertension, Telangiectasia, Normocytic anemia, Pneumonia, Weakness of facial musculature, Eleva... ORPHA:247691
Chloramphenicol Toxicity
Aplastic anemia OMIM:515000
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Impaired proprioception, Gait disturbance, Abnormality of the spinal cord, Truncal titubation, Ax... ORPHA:88628
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hip contracture, Melena, Muscle hemorrhage, Generalized abnormality of skin, Gastrointestinal hem... ORPHA:464321
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Hyperhomocystinemia, Micrognathia, Methylmalonic acidemia, Neutropenia, Methylmalonic aciduria, T... OMIM:614857
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Pseudocoarctation of the aorta, Bicuspid aortic valve, Patent ductus arteriosus ORPHA:228190
Arteriovenous Malformations Of The Brain
Cerebral arteriovenous malformation OMIM:108010
Distal Nebulin Myopathy
Ankle flexion contracture, Weakness of the intrinsic hand muscles, Weakness of facial musculature... ORPHA:399103
Amyotrophic Lateral Sclerosis 16, Juvenile
Limb muscle weakness, Amyotrophic lateral sclerosis, Muscle weakness, Abnormal lower motor neuron... OMIM:614373
Adrenomyeloneuropathy
Abnormality of the spinal cord, Dorsal column degeneration, Axonal degeneration, Atrophy of the s... ORPHA:139399
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Proximal amyotrophy, Gait disturbance, Neuronal loss in central nervous system, Amyotrophic later... OMIM:608030
Scimitar Syndrome
Left-to-right shunt, Truncus arteriosus, Mitral atresia, Single ventricle, Patent ductus arterios... ORPHA:185
Acquired Aneurysmal Subarachnoid Hemorrhage
Cerebral hemorrhage, Syncope, Hypertension, Leukocytosis, ST segment depression, Prolonged QTc in... ORPHA:90065
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Babinski sign, Skeletal muscle atrophy, Respiratory insufficiency due to muscle weakness, Amyotro... OMIM:612069
Autosomal Recessive Centronuclear Myopathy
Gowers sign, Hip contracture, Respiratory insufficiency, Facial diplegia, Progressive muscle weak... ORPHA:169186
Glycogen Storage Disease Due To Acid Maltase Deficiency
Oligosacchariduria, Exertional dyspnea, Basilar artery calcification, Vasculitis, Transient ische... ORPHA:365
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Respiratory insufficiency, Bradycardia, Patent ductus arteriosus, Hy... OMIM:616276
Galloway-Mowat Syndrome 3
Hypertension, Micrognathia, Cerebellar atrophy, High palate, Midface retrusion, Nephrotic syndrom... OMIM:617729
Machado-Joseph Disease Type 3
Clumsiness, Progressive gait ataxia, Supranuclear ophthalmoplegia, Substantia nigra gliosis, Abno... ORPHA:276244
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Decreased muscle mass, Palpitations, Ventricular tachycardia, Ventricular hypertrophy, Cardiomyop... ORPHA:263297
Duchenne Muscular Dystrophy
Proximal muscle weakness, Skeletal muscle atrophy, Respiratory insufficiency, Progressive muscle ... ORPHA:98896
Long Qt Syndrome 13
Syncope, Hypertension, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Tachyc... OMIM:613485
Amyotrophic Lateral Sclerosis
Paralysis, Fatigable weakness of bulbar muscles, Motor neuron atrophy, Skeletal muscle atrophy, A... ORPHA:803
Renal-Hepatic-Pancreatic Dysplasia 2
Hypertrophic cardiomyopathy, Cystic renal dysplasia, Hepatomegaly, Truncus arteriosus, Pulmonary ... OMIM:615415
Chromosome 22Q11.2 Deletion Syndrome, Distal
Truncus arteriosus OMIM:611867
Bronchopulmonary Dysplasia
Right ventricular failure, Diaphragmatic paralysis, Wheezing, Central apnea, Hyperoxemia, Abnorma... ORPHA:70589
Feingold Syndrome Type 1
Interrupted aortic arch, Horseshoe kidney, Micrognathia, Hydronephrosis, Tricuspid atresia, Tricu... ORPHA:391641
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Decreased plasma free carnitine, Failure to thrive, Ventricular hypertrophy, Apnea,... OMIM:619048
Progressive Non-Fluent Aphasia
Temporal cortical atrophy, Abnormality of extrapyramidal motor function, Senile plaques, Astrocyt... ORPHA:100070
Autosomal Dominant Coarctation Of Aorta
Ventricular septal defect, Abnormal aortic arch morphology, Patent ductus arteriosus, Aortic arch... ORPHA:1455
Short Chain Acyl-Coa Dehydrogenase Deficiency
Ethylmalonic aciduria, Optic atrophy, Myopathy, Dystonia, Failure to thrive, Cardiomyopathy, Elev... ORPHA:26792
Craniofacioskeletal Syndrome
Interrupted aortic arch, Hypospadias, Micrognathia, Hydronephrosis, Ventricular septal defect, Cl... OMIM:300712
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Vascular ring, Ventricular septal defect, Skeletal muscle atrophy, Mitral regurgitation, Knee fle... OMIM:603387
Combined Oxidative Phosphorylation Deficiency 31
Hypertrophic cardiomyopathy, Left ventricular noncompaction OMIM:617228
Acute Panmyelosis With Myelofibrosis
Abnormality of bone marrow stromal cells, Pancytopenia, Myelofibrosis, Acute myelomonocytic leuke... ORPHA:86843
Distal Trisomy 14Q
Abnormal aortic morphology, Patent ductus arteriosus ORPHA:1705
Adams-Oliver Syndrome 6
Renal hypoplasia, Ventricular septal defect, Truncus arteriosus, Esophageal varix, Tricuspid regu... OMIM:616589
Acrocardiofacial Syndrome
Hypospadias, Ventricular septal defect, Death in infancy, Truncus arteriosus, Cleft palate, Cleft... ORPHA:2008
Partial Atrioventricular Septal Defect
Syncope, Bicuspid aortic valve, Patent ductus arteriosus, Exertional dyspnea, Transient ischemic ... ORPHA:1330
Infantile Refsum Disease
Optic atrophy, Short stature, Failure to thrive, Progressive muscle weakness, Facial palsy, Cardi... ORPHA:772
Leukoencephalopathy, Progressive, With Ovarian Failure
Dystonia, Cerebellar atrophy, Neurodegeneration, Tremor, Ataxia, Apraxia, Spasticity, Premature o... OMIM:615889
Distal Anoctaminopathy
Progressive muscle weakness, Proximal muscle weakness in upper limbs, Waddling gait, Calf muscle ... ORPHA:399096
Alport Syndrome
IgA deposition in the glomerulus, Thin glomerular basement membrane, Tubulointerstitial fibrosis,... ORPHA:63
Fanconi Anemia, Complementation Group T
Pancytopenia, Thrombocytopenia, Anemia, Bone marrow hypocellularity OMIM:616435
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism
Peroneal muscle atrophy, Trophic limb changes, Axonal loss, Distal amyotrophy, Orthostatic hypote... OMIM:118301
Apert Syndrome
Pyloric stenosis, Brachyturricephaly, Cleft palate, Malar flattening, Delayed eruption of teeth, ... OMIM:101200
Eisenmenger Syndrome
Wheezing, Right ventricular failure, Syncope, Left-to-right shunt, Brain abscess, Ventricular arr... ORPHA:97214
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Hypospadias, Death in infancy, Bradycardia, ... OMIM:618815
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Atrioventricular canal defect, Coarctation of aorta, Hypoplastic left ... OMIM:615779
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Sinusitis, Hepatomegaly, B lymphocytopenia, Pneumonia, Failure to thrive, Reduced red cell adenos... OMIM:102700
Amyotrophy, Hereditary Neuralgic
Peripheral axonal degeneration, Skeletal muscle atrophy, Short stature, Axonal degeneration, Brac... OMIM:162100
1Q21.1 Microdeletion Syndrome
Interrupted aortic arch, Hydronephrosis, High palate, Long philtrum, Failure to thrive, Patent du... ORPHA:250989
Biliary, Renal, Neurologic, And Skeletal Syndrome
Left-to-right shunt, Esophageal varix, Neonatal death, Patent ductus arteriosus, Splenomegaly, In... OMIM:619534
Charcot-Marie-Tooth Disease Type 4A
Spinal deformities, Quadriceps muscle weakness, Joint contracture of the hand, Chronic axonal neu... ORPHA:99948
Neuropathy, Hereditary Motor And Sensory, Russe Type
Paralysis, Decreased motor nerve conduction velocity, Decreased number of large peripheral myelin... OMIM:605285
Adams-Oliver Syndrome 4
Ventricular septal defect, Atrial septal defect, Umbilical hernia, Patent ductus arteriosus OMIM:615297
Amyotrophic Lateral Sclerosis 19
Loss of ability to walk, Respiratory insufficiency due to muscle weakness, Amyotrophic lateral sc... OMIM:615515
Neuronopathy, Distal Hereditary Motor, Type Viib
Hand muscle weakness, Vocal cord paralysis, Facial palsy, Abnormal lower motor neuron morphology,... OMIM:607641
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Carious teeth, Hypospadias, Bicuspid aortic valve, Cardiac conduction abnormality, Patent ductus ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Carious teeth, Hypospadias, Bicuspid aortic valve, Cardiac conduction abnormality, Patent ductus ... ORPHA:353277
Coronary Arterial Fistula
Coronary artery aneurysm, Syncope, Bicuspid aortic valve, Patent ductus arteriosus, Exertional dy... ORPHA:2041
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Pseudocoarctation of the aorta, Bicuspid aortic valve, Patent ductus arteriosus OMIM:604381
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Hypospadias, Bicuspid aortic valve, Truncus arteriosus, Retinal coloboma, Abnormality of the opti... ORPHA:508498
Tako-Tsubo Cardiomyopathy
Syncope, Ventricular arrhythmia, Mildly reduced ejection fraction, ST segment depression, Low-out... ORPHA:66529
Idiopathic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Foamy urine, Minimal change glomerulonephritis, Abnormal circ... ORPHA:567548
Heart And Brain Malformation Syndrome
Interrupted aortic arch, Dandy-Walker malformation, Ventricular septal defect, High, narrow palat... OMIM:616920
Nemaline Myopathy 5
Proximal amyotrophy, Myopathy, Shoulder flexion contracture, Z-band streaming, Hip contracture, R... OMIM:605355
Bethlem Myopathy
Reduced maximal expiratory pressure, Generalized amyotrophy, Quadriceps muscle weakness, Camptoda... ORPHA:610
Motor Neuron Disease With Dementia And Ophthalmoplegia
Respiratory insufficiency, Ophthalmoparesis, Astrocytosis, Ophthalmoplegia, Cerebral atrophy, Res... OMIM:600333
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Abnormality of the vertebral column, Peripheral demyelination, Quadriceps muscle weakness, Proxim... ORPHA:101097
Lethal Congenital Contracture Syndrome 10
Stiff neck, Micrognathia, Ventricular septal defect, High palate, Long philtrum, Torticollis, Hyp... OMIM:617022
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Athetosis, Dystonia, Paralysis, Axonal loss, Amyotrophic lateral sclerosis, Gliosis OMIM:300857
Mucopolysaccharidosis, Type Vii
Chronic bronchitis, Hirsutism, Short stature, Postnatal growth retardation, Anterior beaking of l... OMIM:253220
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Bicuspid aortic valve, Ventricular septal defect, Smooth philtrum, Failure to thrive in infancy, ... ORPHA:477817
Amyotrophic Lateral Sclerosis 9
Amyotrophic lateral sclerosis, Distal muscle weakness, Spasticity, Distal amyotrophy OMIM:611895
Stankiewicz-Isidor Syndrome
Hypospadias, Micrognathia, Ureteral duplication, Truncus arteriosus, Ventricular septal defect, P... OMIM:617516
Aicardi-Goutieres Syndrome 9
Increased blood pressure, Micropenis, Hepatosplenomegaly, Portal hypertension, Hemolytic anemia, ... OMIM:619487
Granulomatosis With Polyangiitis
Sinusitis, Pleuritis, Abnormality of the hypothalamus-pituitary axis, Cerebral ischemia, Recurren... ORPHA:900
Digeorge Syndrome
Cleft palate, Truncus arteriosus, Renal dysplasia, Patent ductus arteriosus, Unilateral renal age... OMIM:188400
Myofibrillar Myopathy 10
Ankle flexion contracture, Percussion myotonia, Mandibular prognathia, Increased QRS voltage, Ele... OMIM:619040
Rubinstein-Taybi Syndrome 1
Hypospadias, Leukemia, Patent ductus arteriosus, Coloboma, Delayed cranial suture closure, Hypopl... OMIM:180849
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 2
Pancytopenia, Leukemia, Bone marrow hypocellularity, Myeloid leukemia, Aplastic anemia OMIM:614743
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities
Optic atrophy, Nephrotic syndrome, Diffuse mesangial sclerosis, Renal insufficiency, Retinal arte... OMIM:249660
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Telangiectasia, Hematuria, Vasculitis in the skin, Raynaud phenomenon, Retinal exudate, Macular e... OMIM:192315
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Babinski sign, Gait disturbance, Dystonia, Rigidity, Neuronal loss in central nervous system, Myo... OMIM:600795
Pseudohypoparathyroidism Type 1B
Elevated circulating parathyroid hormone level, Hypocalcemic tetany, Prolonged QT interval, Hypoc... ORPHA:94089
Congenital Arthrogryposis With Anterior Horn Cell Disease
Dystonia, Abnormal anterior horn cell morphology, Peripheral axonal neuropathy, Skeletal muscle a... OMIM:611890
Coenzyme Q10 Deficiency, Primary, 8
Hypertension, Small for gestational age, Renal dysplasia, Elevated circulating creatinine concent... OMIM:616733
Amyotrophic Lateral Sclerosis 18
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Fasciculations, Muscle weakness, Spasticity OMIM:614808
Coenzyme Q10 Deficiency, Primary, 1
Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Cerebellar atrophy, Nephrotic syndrome, El... OMIM:607426
Tricuspid Atresia
Ventricular septal defect, Tricuspid atresia, Hypoplasia of right ventricle, Persistent left supe... ORPHA:1209
Amyotrophic Lateral Sclerosis 21
Respiratory insufficiency due to muscle weakness, Amyotrophic lateral sclerosis, Decreased nerve ... OMIM:606070
Rowley-Rosenberg Syndrome
Cor pulmonale, Hypertension, Right ventricular hypertrophy, Pulmonary arterial hypertension, Redu... OMIM:268500
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cleft palate, Hypoplasia of the thymus, Apnea, Cubitus valgus, Joint contracture of the hand, Tur... OMIM:214110
Scorpion Envenomation
Prominent U wave, Myocarditis, Cardiac conduction abnormality, ST segment depression, Pulmonary e... ORPHA:466677
Dilated Cardiomyopathy With Ataxia
Dilated cardiomyopathy, Optic atrophy, Dystonia, Prolonged QT interval, Hypochromic microcytic an... ORPHA:66634
Distal Myotilinopathy
Progressive distal muscle weakness, Abnormal muscle fiber myotilin, EMG: myopathic abnormalities,... ORPHA:98911
Galloway-Mowat Syndrome 2, X-Linked
Micrognathia, Cerebellar atrophy, High palate, Minimal change glomerulonephritis, Nephrotic syndr... OMIM:301006
Fabry Disease
Hyperlipidemia, Achalasia, Transient ischemic attack, Nephropathy, Emphysema, Hypertrophic cardio... ORPHA:324
Meacham Syndrome
Bicuspid aortic valve, Death in infancy, Neonatal death, Aplasia of the left hemidiaphragm, Paten... OMIM:608978
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Absent muscle fiber merosin, Respiratory failure, Decreased body weight, Reduced ejection fractio... ORPHA:258
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Abnormality of neuronal migration, Decreased plasma free carnitine, Apnea... OMIM:608836
Cardiogenic Shock
Right ventricular failure, Crackles, Low-output congestive heart failure, Reduced consciousness/c... ORPHA:97292
Spinocerebellar Ataxia With Dysmorphism
Babinski sign, Cerebellar atrophy, Coarse hair, Ataxia, Scoliosis OMIM:271270
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Muscle weakness, Amyotrophic lateral sclerosis, Fasciculations, Limb muscle weakness OMIM:619141
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Pancreatic hypoplasia, Double outlet left ventricle, Patent ductus arteriosus, Congenital defect ... ORPHA:2255
Charge Syndrome
Cleft palate, Delayed eruption of teeth, Patent ductus arteriosus, Iris coloboma, Aplasia/Hypopla... ORPHA:138
Amish Nemaline Myopathy
Proximal amyotrophy, Shoulder flexion contracture, Hip contracture, Progressive muscle weakness, ... ORPHA:98902
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Charge Syndrome
Cleft palate, Dysplastic tricuspid valve, Duodenal atresia, Retinal coloboma, Decreased response ... OMIM:214800
Asbestos Intoxication
Wheezing, Right ventricular failure, Cor pulmonale, Lung adenocarcinoma, Pleural thickening, Exer... ORPHA:2302
Lambert Syndrome
Branchial anomaly, Ventricular septal defect ORPHA:1296
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Abnormal tricuspid valve morphology, Pulmonary artery atresia, Patent ductus arteriosus ORPHA:1208
Triosephosphate Isomerase Deficiency
Dystonia, Myopathy, Optic disc pallor, Skeletal muscle atrophy, Progressive muscle weakness, Resp... OMIM:615512
Nephrotic Syndrome, Type 14
Focal segmental glomerulosclerosis, Adrenal insufficiency, Nephrotic syndrome, Stage 5 chronic ki... OMIM:617575
Monosomy 18Q
Left-to-right shunt, Slender build, Patent ductus arteriosus, Micropenis, Cerebellar hypoplasia, ... ORPHA:1600
3-Methylglutaconic Aciduria, Type Viii
Dystonia, Death in infancy, Neutropenia, Apnea, Bradycardia, Respiratory failure, 3-Methylglutaco... OMIM:617248
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Episodic tachypnea, Hyperammonemia, Lethargy, Jaundice, Ventricular septa... ORPHA:26793
Ethylene Glycol Poisoning
Confusion, Renal tubular dysfunction, Gastritis, Pulmonary edema, Hypertension, Abnormal pattern ... ORPHA:31826
Focal Segmental Glomerulosclerosis 2
Hypertension, Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney dise... OMIM:603965
Immunodeficiency 69
Thrombocytosis, Leukocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Pancytopenia OMIM:618963
45,X/46,Xy Mixed Gonadal Dysgenesis
Hypospadias, Bicuspid aortic valve, Cubitus valgus, Urogenital sinus anomaly, Micropenis, Low pos... ORPHA:1772
Transcobalamin Deficiency
Neutropenia, Lymphopenia, Pancytopenia, Thrombocytopenia, Megaloblastic bone marrow ORPHA:859
Multifocal Motor Neuropathy
Motor conduction block, Progressive distal muscle weakness, Limb muscle weakness, Progressive mus... ORPHA:641
17Q24.2 Microdeletion Syndrome
Micrognathia, Patent ductus arteriosus after birth at term, Prolonged QT interval, Short philtrum... ORPHA:529962
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Proximal muscle weakness, Scapuloperoneal amyotrophy, Respiratory insufficiency due to muscle wea... OMIM:611067
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Micrognathia, Abnormal aortic morphology, Ventricular septal defect, Respiratory insufficiency, C... ORPHA:1166
Congenital Disorder Of Glycosylation, Type Ie
Flat occiput, Telangiectasia, Micrognathia, Optic atrophy, Ankle flexion contracture, Pontocerebe... OMIM:608799
Galloway-Mowat Syndrome 1
Joint contracture of the hand, Camptodactyly, Micrognathia, High palate, Nephrotic syndrome, Pach... OMIM:251300
Drug-Induced Lupus Erythematosus
Pericarditis, Pericardial effusion, Petechiae, Elevated circulating creatine kinase concentration... ORPHA:231111
Bronchogenic Cyst
Paresthesia, Pneumonia, Bronchogenic cyst, Syringomyelia, Abnormality of the cervical spine, Back... ORPHA:2357
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Wheezing, Neonatal respiratory distress, Crackles, Elevated bronchoalveolar lavage fluid lymphocy... OMIM:610978
Oligomeganephronia
Branchial cyst, Abnormality of medullary pyramid morphology, Decreased glomerular filtration rate... ORPHA:2260
Melas
Dilated cardiomyopathy, Cardiac conduction abnormality, Diabetes mellitus, Nephropathy, Reduced c... ORPHA:550
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Optic atrophy, Hepatomegaly, Dystonia, Neutropenia, Failure to thrive, Anemia, Cardiomyopathy, Hy... ORPHA:79312
Cerebrotendinous Xanthomatosis
Long-tract signs, Abnormal auditory evoked potentials, Global brain atrophy, Axonal degeneration,... ORPHA:909
3C Syndrome
Hypospadias, Abnormality of neuronal migration, Death in infancy, Cleft palate, Iris coloboma, Ap... ORPHA:7
Amyotrophic Lateral Sclerosis 11
Amyotrophic lateral sclerosis, Skeletal muscle atrophy, Upper motor neuron dysfunction OMIM:612577
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect, Pulmonary artery atresia OMIM:178370
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Respiratory insufficiency, Short stature, Failure to thrive, Progressive muscle weakness, Rimmed ... OMIM:619518
Cardiomyopathy, Familial Hypertrophic, 13
Hypertrophic cardiomyopathy, Syncope, Atrial fibrillation, Biventricular hypertrophy, ST segment ... OMIM:613243
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Myoglobinuria, Prolonged QT interval, Prolon... ORPHA:71212
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Amyotrophic lateral sclerosis, Skeletal muscle atrophy, Distal muscle weakness OMIM:205250
Heart Defects, Congenital, And Other Congenital Anomalies
Interrupted aortic arch, Ventricular septal defect, Truncus arteriosus, Failure to thrive, Hypopl... OMIM:600001
Neuronopathy, Distal Hereditary Motor, Type Viia
Vocal cord paralysis, Vocal cord paresis, Tremor, Distal amyotrophy, Distal muscle weakness, Diff... OMIM:158580
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Ethylmalonic aciduria, Myopathy, Failure to thrive, Facial palsy, Cardiomyopathy, Flexion contrac... OMIM:201470
Bardet-Biedl Syndrome 16
Renal agenesis, Retinal degeneration, Renal dysplasia, Renal cyst, Rod-cone dystrophy, Bronchioli... OMIM:615993
Focal Segmental Glomerulosclerosis 1
Hypertension, Focal segmental glomerulosclerosis, Hyperlipidemia, Anemia, Stage 5 chronic kidney ... OMIM:603278
Idiopathic Non-Lupus Full-House Nephropathy
Hypertension, Abnormal glomerular mesangium morphology, Synovitis, Nephrotic syndrome, Elevated c... ORPHA:567544
Turner Syndrome Due To Structural X Chromosome Anomalies
Bicuspid aortic valve, Inflammation of the large intestine, Hashimoto thyroiditis, Hyperlipidemia... ORPHA:99413
Mosaic Monosomy X
Bicuspid aortic valve, Inflammation of the large intestine, Hashimoto thyroiditis, Hyperlipidemia... ORPHA:99228
Monosomy X
Bicuspid aortic valve, Inflammation of the large intestine, Hashimoto thyroiditis, Hyperlipidemia... ORPHA:99226
Turner Syndrome
Bicuspid aortic valve, Inflammation of the large intestine, Hashimoto thyroiditis, Hyperlipidemia... ORPHA:881
Nephrotic Syndrome, Type 1
Renal tubular atrophy, Hypoproteinemia, Pyloric stenosis, Neonatal respiratory distress, Hyperlip... OMIM:256300
Ogden Syndrome
High, narrow palate, Ventricular septal defect, Everted upper lip vermilion, Torticollis, Shuffli... ORPHA:276432
Triglyceride Deposit Cardiomyovasculopathy
Hyperlipidemia, Low-output congestive heart failure, Splenomegaly, Diabetes mellitus, Coronary ar... ORPHA:565612
Cardiac Diverticulum
Syncope, Bicuspid aortic valve, Tricuspid stenosis, Abnormal coronary artery origin, Mitral steno... ORPHA:1686
Monosomy 22
High palate, Hypochromic microcytic anemia, Long philtrum, Thin vermilion border, Aplasia of the ... ORPHA:96123
Galloway-Mowat Syndrome 4
Nephrotic syndrome, Glomerular sclerosis, Stage 5 chronic kidney disease, Polymicrogyria, Cerebel... OMIM:617730
Aplastic Anemia
Aplastic anemia, Bone marrow hypocellularity OMIM:609135
Atrial Septal Defect, Ostium Secundum Type
Right ventricular failure, Syncope, Left-to-right shunt, ST segment depression, Exertional dyspne... ORPHA:99103
Leptospirosis
Chorioretinitis, Lymphadenopathy, Optic neuritis, Jaundice, Hyperproteinemia, Pericarditis, Subco... ORPHA:509
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Babinski sign, Optic atrophy, Cerebellar atrophy, Dystonia, External ophthalmoplegia, Dysmetria, ... OMIM:612319
Combined Oxidative Phosphorylation Deficiency 52
Hypertrophic cardiomyopathy, Hyperamylasemia, Adrenal insufficiency, Death in infancy, Lacticacid... OMIM:619386
Holoprosencephaly
Abnormality of neuronal migration, Iris coloboma, Aplasia/Hypoplasia of the cerebellum, Diabetes ... ORPHA:2162
Focal Segmental Glomerulosclerosis 5
Hypertension, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Microscopic hem... OMIM:613237
Dextrocardia
Dextrocardia, Abnormality of the spleen, Abnormal pulmonary situs morphology, Abnormality of the ... ORPHA:1666
Gaisböck Syndrome
Diabetes mellitus, Increased circulating renin level, Coronary artery atherosclerosis, Hypertensi... ORPHA:90041
Aortic Arch Interruption
Bicuspid aortic valve, Truncus arteriosus, Single ventricle, Patent ductus arteriosus, Intermitte... ORPHA:2299
Long Qt Syndrome 16
T-wave alternans, Patent ductus arteriosus after birth at term, Prolonged QTc interval, Perimembr... OMIM:618782
Peters-Plus Syndrome
Hypospadias, Cleft palate, Retinal coloboma, Patent ductus arteriosus, Iris coloboma, Diastasis r... OMIM:261540
Linear Skin Defects With Multiple Congenital Anomalies 1
Hypospadias, Ventricular septal defect, Histiocytoid cardiomyopathy, Chordee, Congenital diaphrag... OMIM:309801
Mucopolysaccharidosis Type 3
Hirsutism, Recurrent sinopulmonary infections, Abnormal form of the vertebral bodies, Abnormal py... ORPHA:581
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hypertension, Focal segmental glomerulosclerosis, Hematuria, Proteinuria, Renal insufficiency OMIM:607832
Mesoaxial Hexadactyly And Cardiac Malformation
Ventricular septal defect, Torticollis, Patent ductus arteriosus, Pulmonic stenosis, Atrial septa... OMIM:249670
Galloway-Mowat Syndrome 5
Nephrotic syndrome, Mandibular prognathia, Glomerular sclerosis, Stage 5 chronic kidney disease, ... OMIM:617731
Incontinentia Pigmenti
Abnormal dental enamel morphology, Delayed eruption of teeth, Cerebral ischemia, Camptodactyly of... ORPHA:464
Lujo Hemorrhagic Fever
Myocarditis, Crackles, Excessive bleeding after a venipuncture, Microscopic hematuria, Elevated c... ORPHA:319213
Ras-Associated Autoimmune Leukoproliferative Disorder
Neutropenia, Monocytosis, Leukemia, Splenomegaly, Autoimmune thrombocytopenia, Lymphocytosis, Pan... OMIM:614470
Acute Interstitial Pneumonia
Reduced hematocrit, Crackles, Lymphadenopathy, Respiratory failure, Elevated circulating C-reacti... ORPHA:79126
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome
Gait disturbance, Growth delay, Abnormality of hair texture, Ataxia, Pili torti, Sparse or absent... ORPHA:2891
Distal 22Q11.2 Microdeletion Syndrome
Pyloric stenosis, High, narrow palate, Ventricular septal defect, Cleft palate, Truncus arteriosu... ORPHA:261330
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Carious teeth, Abnormal aortic arch morphology, Genu varum, Mandibular prognathia, Hypoplasia of ... ORPHA:1110
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Neutropenia, Acute myelomonocytic leukemia, Anemia, Pancytopenia, Thrombocyto... OMIM:159550
X-Linked Charcot-Marie-Tooth Disease Type 5
Optic atrophy, Gait disturbance, Skeletal muscle hypertrophy, Impaired pain sensation, Kyphosis, ... ORPHA:99014
Fabry Disease
Hypertension, Lipiduria, Anemia, Ventricular septal hypertrophy, Delayed puberty, Myocardial infa... OMIM:301500
Syndromic Diarrhea
Bicuspid aortic valve, Peripheral pulmonary artery stenosis, Hypoplasia of the thymus, Patent duc... ORPHA:84064
Al Amyloidosis
Gastrointestinal hemorrhage, Abnormal EKG, Monoclonal light chain cardiac amyloidosis, Bruising s... ORPHA:85443
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Abnormal mitochondria in muscle tissue, Ragg... OMIM:252011
Neurodegeneration With Brain Iron Accumulation 5
Dystonia, Cerebellar atrophy, Rigidity, Neurodegeneration, Abnormality of extrapyramidal motor fu... OMIM:300894
Galloway-Mowat Syndrome 8
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Hematuria, Enamel ... OMIM:618349
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Focal segmental glomerulosclerosis, Steppage gait, Distal upper limb amyotrophy, Stage 5 chronic ... OMIM:614455
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Focal segmental glomerulosclerosis, Cerebellar atrophy, Nephrotic syndrome, Gait ataxia, Nephropa... OMIM:254900
Frontotemporal Dementia With Motor Neuron Disease
Babinski sign, Degeneration of the lateral corticospinal tracts, Proximal muscle weakness, Weakne... ORPHA:275872
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Paralysis, Peripheral axonal neuropathy, Skeletal muscle atrophy, Contractures of the joints of t... OMIM:613710
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Pancytopenia OMIM:600546
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Cerebellar atrophy, Neurodegeneration, Ataxia, Cerebral atrophy OMIM:610951
Recombinant Chromosome 8 Syndrome
Thick lower lip vermilion, Micrognathia, Hydronephrosis, Ventricular septal defect, Brachycephaly... OMIM:179613
Galloway-Mowat Syndrome 10
Cerebellar atrophy, Congenital hypothyroidism, Podocyte foot process effacement, Stage 5 chronic ... OMIM:619609
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Muscle weakness, Amyotrophic lateral sclerosis, Tongue fasciculations OMIM:613435
Distal 7Q11.23 Microdeletion Syndrome
Atrial septal defect, Patent ductus arteriosus ORPHA:254351
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Steppage gait, Decreased nerve conduction velocity, Paraparesis, Distal sensory impairment, Upper... OMIM:302802
Simpson-Golabi-Behmel Syndrome
Hypospadias, Aplasia/Hypoplasia of the abdominal wall musculature, Death in infancy, Cleft palate... ORPHA:373
Neurodegeneration With Brain Iron Accumulation 6
Gait disturbance, Dystonia, Rigidity, Neurodegeneration, Oromandibular dystonia, Motor axonal neu... OMIM:615643
Behavioral Variant Of Frontotemporal Dementia
Gait disturbance, Abnormality of extrapyramidal motor function, Fasciculations, Stereotypy, Astro... ORPHA:275864
Immunodeficiency, Common Variable, 13
Pancytopenia, B lymphocytopenia, Acute lymphoblastic leukemia OMIM:616873
Andersen Cardiodysrhythmic Periodic Paralysis
Prominent U wave, Syncope, Micrognathia, Delayed eruption of permanent teeth, Bidirectional ventr... OMIM:170390
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Decreased motor nerve conduction velocity, Impaired proprioception, Impaired temperature sensatio... DECIPHER:29
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Hyperammonemia, Elevated circulating acylcarnitine concentration, Hypertrophic cardiomyopathy, Ga... OMIM:616878
Neonatal Lupus Erythematosus
Dilated cardiomyopathy, Hepatomegaly, Prolonged QT interval, Neutropenia, Pancytopenia, Cutaneous... ORPHA:398124
Acitretin/Etretinate Embryopathy
Micrognathia, Third degree atrioventricular block, Conotruncal defect, Aplasia/Hypoplasia of the ... ORPHA:40366
Giant Axonal Neuropathy
Babinski sign, Diffuse axonal swelling, Proximal muscle weakness, Limb muscle weakness, Facial pa... ORPHA:643
Refractory Anemia With Excess Blasts
Leukocytosis, Anemia of inadequate production, Palpitations, Abnormal mean corpuscular volume, Bo... ORPHA:86839
Ataxia-Telangiectasia-Like Disorder 2
Telangiectasia, Cerebellar atrophy, Short stature, Neurodegeneration, Progressive muscle weakness... OMIM:615919
Homozygous Familial Hypercholesterolemia
Coronary artery aneurysm, Myocardial steatosis, Hyperlipidemia, Premature coronary artery atheros... ORPHA:391665
Myopathy, Myofibrillar, 4
Progressive distal muscle weakness, Autophagic vacuoles, Progressive muscle weakness, EMG: myopat... OMIM:609452
Perlman Syndrome
Interrupted aortic arch, Micrognathia, Long upper lip, Congenital diaphragmatic hernia, Volvulus,... OMIM:267000
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Distal arthrogryposis, Myopathy, Hepatomegaly, Skeletal muscle atrophy, Cachexia, Elevated circul... ORPHA:42
Trisomy 20P
Highly arched eyebrow, Gait disturbance, Low anterior hairline, Abnormal form of the vertebral bo... ORPHA:261318
Craniofaciofrontodigital Syndrome
Pyloric stenosis, Bicuspid aortic valve, Anomalous branches of internal carotid artery, Patent du... ORPHA:363705
Congenital Left Ventricular Aneurysm
Abnormal T-wave, Apnea, Abnormal ST segment, Congestive heart failure, Abnormal left ventricle mo... ORPHA:1055
Sporadic Pheochromocytoma/Secreting Paraganglioma
Cerebral hemorrhage, Hypercalcemia, Paraganglioma of head and neck, Elevated urinary dopamine, Ex... ORPHA:276621
Lethal Infantile Mitochondrial Myopathy
Neonatal respiratory distress, Renal insufficiency, Cardiomyopathy, Lethargy ORPHA:254857
8Q24.3 Microdeletion Syndrome
Branchial cyst, Smooth philtrum, Truncus arteriosus, Retinal coloboma, Patent ductus arteriosus, ... ORPHA:508488
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Impaired proprioception, Myoclonus, Fasciculations, Progressive cerebellar ataxia, Truncal ataxia... ORPHA:95434
Atrial Standstill
Syncope, Ventricular escape rhythm, Cardiac conduction abnormality, Abnormal P wave, Reduced ejec... ORPHA:1344
Bohring-Opitz Syndrome
Cleft palate, Apnea, Cleft lip, Coloboma, Recurrent respiratory infections, Nephroblastoma, Micro... ORPHA:97297
Nephrotic Syndrome, Type 24
Renal cortical hyperechogenicity, Focal segmental glomerulosclerosis, Podocyte foot process effac... OMIM:619263
Motor Neuropathy, Peripheral, With Dysautonomia
Skeletal muscle atrophy, Orthostatic hypotension, Progressive muscle weakness, Peripheral demyeli... OMIM:252320
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Patent ductus arteriosus, Hepatosplenomegaly, Recurrent respiratory infections, Hypertrophic card... ORPHA:505248
Bannayan-Riley-Ruvalcaba Syndrome
Thyroid carcinoma, Cutis marmorata, Abnormality of the optic nerve, Micrognathia, Long philtrum, ... ORPHA:109
Wild Type Attr Amyloidosis
Hypertrophic cardiomyopathy, Hepatomegaly, Orthostatic hypotension due to autonomic dysfunction, ... ORPHA:330001
Distal Myopathy With Anterior Tibial Onset
Weakness of the intrinsic hand muscles, Tibialis muscle weakness, Finger flexor weakness, Intrins... ORPHA:178400
Familial Hyperaldosteronism Type Iii
Adrenal hyperplasia, Hypertension, Intracranial hemorrhage, Prolonged QT interval, Hypokalemia, A... ORPHA:251274
Viss Syndrome
Left aortic arch with retroesophageal right subclavian artery, Epidural hemorrhage, Tortuous cere... OMIM:619472
Klippel-Trénaunay Syndrome
Hepatomegaly, Respiratory insufficiency, Hematuria, Abnormal tricuspid valve morphology, Patent d... ORPHA:90308
Cerebellar-Facial-Dental Syndrome
Limb hypertonia, Ureteropelvic junction obstruction, Cerebellar hypoplasia, Contractures involvin... ORPHA:444072
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Dystonia, Cerebellar atrophy, Axonal loss, Rigidity, Chorea, Peripheral demyelination, Neurodegen... OMIM:617672
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal macrophage morphology, ... ORPHA:2585
Hurler Syndrome
Death in infancy, Splenomegaly, Camptodactyly of finger, Recurrent respiratory infections, Hypert... ORPHA:93473
Lipodystrophy, Congenital Generalized, Type 4
Pyloric stenosis, Hepatomegaly, Prolonged QT interval, Atrial fibrillation, Skeletal muscle hyper... OMIM:613327
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Neutropenia, Renal cyst, Gout, Anemia, Hyperuricemia, Vascula... OMIM:617056
Pulmonary Alveolar Microlithiasis
Right ventricular failure, Testicular microlithiasis, Mitral valve calcification, Pleural thicken... ORPHA:60025
Glutaryl-Coa Dehydrogenase Deficiency
Athetosis, Dystonia, Subdural hemorrhage, Glutaric aciduria, Joint dislocation, Ataxia, Limb dyst... ORPHA:25
Preeclampsia
Hypertension, Elevated diastolic blood pressure, Small for gestational age, Elevated circulating ... ORPHA:275555
Nephrotic Syndrome, Type 8
Nephrotic syndrome, Thin glomerular basement membrane, Hypoalbuminemia, Chronic kidney disease, D... OMIM:615244
Catastrophic Antiphospholipid Syndrome
Myocarditis, Angina pectoris, Abnormal jugular vein morphology, Microangiopathic hemolytic anemia... ORPHA:464343
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Myopathy, Chorea, Hyperkinetic movements, Truncal ataxia, Limb-girdle muscular dystrophy, Cerebra... ORPHA:369847
Coenzyme Q10 Deficiency, Primary, 5
Dystonia, Cerebellar atrophy, Respiratory insufficiency, Bradycardia, Hyperalaninemia, Left ventr... OMIM:614654
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Weakness of facial musculature, Internally nucleated skeletal muscle fibers, Abnormal Z disc morp... OMIM:618654
Heart Defects-Limb Shortening Syndrome
Ventricular septal defect, Abnormal mitral valve morphology, Abnormal tricuspid valve morphology,... ORPHA:1354
Primary Ciliary Dyskinesia
Wheezing, Neonatal respiratory distress, Pulmonary situs ambiguus, Recurrent sinopulmonary infect... ORPHA:244
Cirrhotic Cardiomyopathy
Left atrial enlargement, Ventricular arrhythmia, Third heart sound, Pulmonary edema, Jaundice, Gl... ORPHA:57777
Hsd10 Disease
Optic atrophy, Gait disturbance, Rigidity, Choreoathetosis, Myoclonus, Tremor, Ataxia, Postnatal ... ORPHA:391417
Distal Monosomy 15Q
Hypospadias, Bicuspid aortic valve, Cleft palate, Decreased serum insulin-like growth factor 1, M... ORPHA:1596
Ventricular Septal Defect 3
Pulmonary artery stenosis, Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus OMIM:614432
Pseudohypoparathyroidism Type 1C
Elevated circulating parathyroid hormone level, Hypocalcemic tetany, Prolonged QT interval, Calci... ORPHA:79444
Bacterial Toxic-Shock Syndrome
Sinusitis, Myocarditis, Confusion, Septic arthritis, Capillary leak, Ecchymosis, Increased circul... ORPHA:36234
Cockayne Syndrome Type 1
Contractures involving the joints of the feet, Hypertension, Gait disturbance, Enamel hypoplasia,... ORPHA:90321
Maternally-Inherited Diabetes And Deafness
Hypertrophic cardiomyopathy, Hypertension, Type II diabetes mellitus, Abnormal circulating lipid ... ORPHA:225
Congenital Disorder Of Glycosylation, Type It
Dilated cardiomyopathy, Hepatomegaly, Micrognathia, Hydronephrosis, Ventricular septal defect, Cl... OMIM:614921
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Hypospadias, Redundant neck skin, Thrombocytopenia, Micropenis, Cerebellar hypoplasia, Abnormal l... OMIM:301056
Paternal Uniparental Disomy Of Chromosome 1
Macroscopic hematuria, Hypertension, Hypercalcemia, Episodic hemolytic anemia, Macular dystrophy,... ORPHA:251004
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Amyotrophic lateral sclerosis, Distal amyotrophy OMIM:205200
Nephrotic Syndrome, Type 3
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Hypoalbum... OMIM:610725
C3 Glomerulopathy
Hypertension, Nephrotic syndrome, Drusen, Elevated circulating creatinine concentration, Hematuri... ORPHA:329918
Primary Pulmonary Hypoplasia
Abnormal breath sound, Hypoxemia, Micrognathia, Neonatal respiratory distress, Dextrocardia, Abno... ORPHA:2257
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Coarctation of aorta, Abnormal cardiac septum morphology, Patent ductus arteriosus OMIM:601612
Chromosome 18Q Deletion Syndrome
Hypospadias, Cleft palate, Malar flattening, Patent ductus arteriosus, Rod-cone dystrophy, Microp... OMIM:601808
Pseudohypoparathyroidism Type 1A
Hypocalcemic seizures, Delayed eruption of teeth, Hyperphosphatemia, Reduced circulating prolacti... ORPHA:79443
Nephrotic Syndrome, Type 23
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Podocyte foot process effa... OMIM:619201
Autosomal Dominant Polycystic Kidney Disease
Aortic root aneurysm, Decreased glomerular filtration rate, Chronic kidney disease, Dilatation of... ORPHA:730
Giant Axonal Neuropathy 1, Autosomal Recessive
Proximal muscle weakness, Decreased number of peripheral myelinated nerve fibers, Steppage gait, ... OMIM:256850
Carnitine-Acylcarnitine Translocase Deficiency
Premature ventricular contraction, Hepatomegaly, Ventricular tachycardia, Atrioventricular block,... OMIM:212138
Vitamin B12-Unresponsive Methylmalonic Acidemia
Optic atrophy, Hepatomegaly, Macrocytic anemia, Respiratory insufficiency, Leukopenia, Anemia, Ca... ORPHA:27
Exercise-Induced Malignant Hyperthermia
Crackles, ST segment depression, Hyperphosphatemia, Lethargy, Delirium, Hypotension, Tachypnea, E... ORPHA:466650
Oculorenocerebellar Syndrome
Glomerular sclerosis, Retinal degeneration, Nephropathy OMIM:257970
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Optic atrophy, Dystonia, Prolonged QT interval, Elevated circulating creatine kinase concentratio... ORPHA:480864
Hereditary Pheochromocytoma-Paraganglioma
Extraadrenal pheochromocytoma, Elevated urinary epinephrine, Sinus tachycardia, Elevated urinary ... ORPHA:29072
Eosinophilic Granulomatosis With Polyangiitis
Sinusitis, Myocarditis, Tubulointerstitial nephritis, Recurrent intrapulmonary hemorrhage, Cutis ... ORPHA:183
Patent Ductus Arteriosus 2
Patent ductus arteriosus OMIM:617035
Patent Ductus Arteriosus 3
Patent ductus arteriosus OMIM:617039
Patent Ductus Arteriosus 1
Patent ductus arteriosus OMIM:607411
Pauci-Immune Glomerulonephritis
Macroscopic hematuria, Tubulointerstitial nephritis, Glomerulonephritis, Abnormality of the pulmo... ORPHA:93126
Histiocytoid Cardiomyopathy
Cleft palate, Pulmonary edema, Cerebellar malformation, Loss of consciousness, Shortened PR inter... ORPHA:137675
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, ... OMIM:618719
Pseudo-Torch Syndrome 2
Cerebral hemorrhage, Hepatomegaly, Respiratory insufficiency, Petechiae, Bradycardia, Patent duct... OMIM:617397
Trichodysplasia-Xeroderma Syndrome
Brittle hair, Alopecia, Coarse hair, Sparse and thin eyebrow, Trichorrhexis nodosa, Pili torti, S... ORPHA:3361
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Hypertension, Orthostatic hypotension, Abnormal renal physiology, Elevated circulating creatinine... OMIM:223900
X-Linked Dominant Chondrodysplasia Punctata
Sparse eyelashes, Severe postnatal growth retardation, Short stature, Spinal deformities, Kyphosc... ORPHA:35173
Lethal Congenital Contracture Syndrome 5
Death in infancy, Respiratory insufficiency, Retinal hemorrhage, Small for gestational age, Eleva... OMIM:615368
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Short stature, Brittle hair, Coarse hair, Kyphosis, Camptodactyly of finger, Sparse hair, Scolios... ORPHA:1883
Noonan Syndrome With Multiple Lentigines
Hypospadias, Aplasia/Hypoplasia of the abdominal wall musculature, Abnormal localization of kidne... ORPHA:500
Amyotrophic Lateral Sclerosis 20
Muscular dystrophy, Amyotrophic lateral sclerosis, Rimmed vacuoles, Muscle fiber inclusion bodies OMIM:615426
Myopathy, X-Linked, With Postural Muscle Atrophy
Hypertrophic cardiomyopathy, Respiratory insufficiency, Elevated circulating creatine kinase conc... OMIM:300696
Nephrotic Syndrome, Type 4
Focal segmental glomerulosclerosis, Nephroblastoma, Nephrotic syndrome, Diffuse mesangial scleros... OMIM:256370
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Generalized limb muscle atrophy, Prolonged QT interval, Elevated circulating creatine kinase conc... OMIM:615351
Primary Lipodystrophy
Hypertension, Myopathy, Type II diabetes mellitus, Skeletal muscle hypertrophy, Type IV atheroscl... ORPHA:90970
Encephalocraniocutaneous Lipomatosis
Interrupted aortic arch, Abnormal aortic morphology, Osteochondrosis, Pulmonary arterial hyperten... ORPHA:2396
Hutchinson-Gilford Progeria Syndrome
Mitral valve calcification, Mitral stenosis, Delayed eruption of teeth, Raynaud phenomenon, Gener... ORPHA:740
Thrombotic Thrombocytopenic Purpura
Confusion, Microangiopathic hemolytic anemia, Hematuria, Decreased serum creatinine, Myocardial i... ORPHA:54057
Short Stature-Wormian Bones-Dextrocardia Syndrome
Dextrocardia, Micrognathia, High palate, Abnormality of the philtrum, Midshaft hypospadias, Wormi... ORPHA:2863
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy
IgA deposition in the glomerulus, Focal segmental glomerulosclerosis, Nephropathy OMIM:182690
Genetic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Foamy urine, Minimal change glomerulonephritis, Stage 5 chron... ORPHA:656
Nephrotic Syndrome, Type 21
Podocyte foot process effacement, Diffuse mesangial sclerosis, Steroid-resistant nephrotic syndro... OMIM:618594
Juvenile Primary Lateral Sclerosis
Skeletal muscle atrophy, Gait imbalance, Spastic gait, Spastic dysarthria, Spastic tetraparesis, ... ORPHA:247604
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Clumsiness, Limb myoclonus, Recurrent aspiration pneumonia, Frequent falls, Respiratory insuffici... ORPHA:2590
Short-Rib Thoracic Dysplasia 12
Cystic renal dysplasia, Renal hypoplasia, Ventricular septal defect, Hepatomegaly, Hypoplastic ni... OMIM:269860
Myopathy, Myofibrillar, 1
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Respira... OMIM:601419
Idiopathic Congenital Hypothyroidism
Large posterior fontanelle, Neonatal hyperbilirubinemia, Macroglossia, Decreased circulating T4 l... ORPHA:95717
Coenzyme Q10 Deficiency, Primary, 6
Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome OMIM:614650
Wt Limb-Blood Syndrome
Leukemia, Thrombocytopenia, Hypoplastic anemia, Pancytopenia OMIM:194350
Distal Tetrasomy 15Q
Dandy-Walker malformation, Horseshoe kidney, Micrognathia, Hydronephrosis, High palate, Pulmonary... ORPHA:314588
Microgastria-Limb Reduction Defect Syndrome
Microgastria, Truncus arteriosus, Renal dysplasia, Plagiocephaly, Abnormal cortical gyration, Per... ORPHA:2538
Nephrotic Syndrome, Type 17
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic s... OMIM:618176
Dyskeratosis Congenita, Autosomal Recessive 3
Pancytopenia, Bone marrow hypocellularity OMIM:613988
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Ventricular septal defect, Left superior vena cava draining directly to the left atrium, Pulmonar... OMIM:613759
Hypoplastic Left Heart Syndrome
Mitral atresia, Mitral stenosis, Patent ductus arteriosus, Hypoplastic left heart, Atrial septal ... ORPHA:2248
Aorta Coarctation
Bicuspid aortic valve, Coarctation of the descending aortic arch, Persistent left superior vena c... ORPHA:1457
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Respiratory arrest, Hypertrophic cardiomyopathy, Hepatomegaly, Death in infancy, Hepatocellular n... OMIM:201475
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Myopathy, Cardiomegaly, Cardiomyopathy, Left ventricular hypertrophy, Oligohydramnios OMIM:617713
Nephrotic Syndrome, Type 12
Focal segmental glomerulosclerosis, Hematuria, Stage 5 chronic kidney disease, Steroid-resistant ... OMIM:616892
Zygomycosis
Sinusitis, Myocarditis, Colon perforation, Brain abscess, Neutropenia, Melena, Gastritis, Gastroi... ORPHA:73263
Igg4-Related Kidney Disease
Tubulointerstitial nephritis, Lymphadenopathy, Pleuritis, Abnormal lung morphology, Chronic kidne... ORPHA:449395
Renal Failure, Progressive, With Hypertension
Hypertension, Elevated circulating creatinine concentration, Nephritis, Stage 5 chronic kidney di... OMIM:161900
Oculocerebrorenal Syndrome Of Lowe
Carious teeth, Odontogenic neoplasm, Death in infancy, Thrombocytopenia, Abnormal dental enamel m... ORPHA:534
Rift Valley Fever
Retinitis, Gingival bleeding, Excessive salivation, Hematuria, Anemia, Melena, Macular edema, Jau... ORPHA:319251
Lymphoproliferative Syndrome, X-Linked, 2
Pancytopenia, Aplastic anemia, Hemophagocytosis, Splenomegaly OMIM:300635
Frontotemporal Dementia
Parkinsonism, Neuronal loss in central nervous system, Amyotrophic lateral sclerosis OMIM:600274
Focal Segmental Glomerulosclerosis 7
Renal hypoplasia, Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney ... OMIM:616002
Igg4-Related Retroperitoneal Fibrosis
Ureteropelvic junction obstruction, Elevated circulating C-reactive protein concentration, Hydroc... ORPHA:49041
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Optic atrophy, Double outlet right ventricle, Abnormal heart morphology, Coarctation of aorta, Cy... OMIM:618164
Lethal Congenital Contracture Syndrome 7
Paralysis, Cerebellar atrophy, Skeletal muscle atrophy, Facial diplegia, Arthrogryposis multiplex... OMIM:616286
16P13.11 Microduplication Syndrome
Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept... ORPHA:261243
Dyskeratosis Congenita, Autosomal Recessive 2
Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity OMIM:613987
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Hypertrophic cardiomyopathy, Growth delay, Failure to thrive, Progressive muscle weakness, Respir... OMIM:613561
Immunodeficiency 21
Abnormal natural killer cell morphology, Neutropenia, Lymphopenia, Myeloid leukemia, Monocytopeni... OMIM:614172
Farber Disease
Abnormality of the knee, Lymphadenopathy, Hepatosplenomegaly, Respiratory insufficiency, Abnormal... ORPHA:333
Riboflavin Transporter Deficiency
Hypertension, Cachexia, Optic disc pallor, Abnormal cranial nerve morphology, Skeletal muscle atr... ORPHA:97229
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Hypertrophic cardiomyopathy, Left ventricular noncompaction, Patent ductus arteriosus OMIM:616501
Cardiomyopathy, Familial Hypertrophic 27
Cardiomegaly, Hydrops fetalis OMIM:618052
Bloom Syndrome
Type II diabetes mellitus, Cutaneous photosensitivity, Small for gestational age, Bronchiectasis,... OMIM:210900
Nephrotic Syndrome, Type 18
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Stage 5 ch... OMIM:618177
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Carious teeth, Midface retrusion, Torticollis, Aortic root aneurysm, Restrictive ventilatory defe... ORPHA:536467
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:616032
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:301028
Brugada Syndrome
Paroxysmal ventricular tachycardia, Syncope, Ventricular arrhythmia, Supraventricular tachycardia... ORPHA:130
Muscular Dystrophy, Cardiac Type
Elevated circulating creatine kinase concentration, Cardiomyopathy, Muscular dystrophy, Abnormal ... OMIM:309930
Congenital Fiber-Type Disproportion Myopathy
Pelvic girdle muscle weakness, Fatigable weakness of bulbar muscles, Hip contracture, Generalized... ORPHA:2020
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypertrophic cardiomyopathy, Syncope, Hepatomegaly, Drowsiness, Focal pancreatic islet hyperplasi... ORPHA:276575
Nephrotic Syndrome, Type 13
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... OMIM:616893
Infantile Sialic Acid Storage Disease
Hepatomegaly, High palate, Nephrotic syndrome, Failure to thrive, Vacuolated lymphocytes, Cardiom... OMIM:269920
Pyruvate Dehydrogenase E3 Deficiency
Abnormal cardiac ventricular function, Hepatomegaly, Hyperisoleucinemia, Failure to thrive, Cardi... ORPHA:2394
Nephrotic Syndrome, Type 19
Steroid-resistant nephrotic syndrome, Chronic kidney disease, Focal segmental glomerulosclerosis,... OMIM:618178
Sepsis In Premature Infants
Neutropenia, Abnormal respiratory system physiology, Petechiae, Splenomegaly, Abnormality of the ... ORPHA:90051
Kleefstra Syndrome
Hypospadias, Bicuspid aortic valve, Pyloric stenosis, Malar flattening, Delayed eruption of teeth... ORPHA:261494
Atrial Septal Defect, Ostium Primum Type
Left atrial enlargement, Syncope, Abnormal respiratory system physiology, Third heart sound, Exer... ORPHA:99106
Fallot Complex With Severe Mental And Growth Retardation
Ventricular septal defect, Failure to thrive, Double outlet right ventricle, Pulmonic stenosis, T... OMIM:601127
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Decreased number of large per... OMIM:614895
Amaurosis-Hypertrichosis Syndrome
Optic atrophy, Coarse hair, Thick eyebrow, Abnormal eyelash morphology, Synophrys ORPHA:1021
Hutchinson-Gilford Progeria Syndrome
Micrognathia, Premature coronary artery atherosclerosis, Precocious atherosclerosis, Malar flatte... OMIM:176670
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Thrombocytosis, Macrocytic anemia, Megaloblastic anemia, Lymphopenia, Pancytopenia, Anemia of ina... OMIM:617780
8P23.1 Microdeletion Syndrome
Hypertrophic cardiomyopathy, Hypospadias, Micrognathia, Abnormal aortic morphology, High palate, ... ORPHA:251071
Treacher-Collins Syndrome
Cleft palate, Thyroid hypoplasia, Hypoplasia of the thymus, Malar flattening, Abnormal dental ena... ORPHA:861
Congenital Heart Defects, Multiple Types, 2
Myxomatous mitral valve degeneration, Bicuspid aortic valve, Ventricular septal defect, Aortic an... OMIM:614980
Fanconi-Like Syndrome
Pancytopenia OMIM:227850
Wiskott-Aldrich Syndrome
Sinusitis, Inflammation of the large intestine, Neutropenia, Petechiae, Hypoplasia of the thymus,... ORPHA:906
Alagille Syndrome 1
Peripheral pulmonary artery stenosis, Renal dysplasia, Papillary thyroid carcinoma, Prolonged neo... OMIM:118450
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Abnormal mitochondria in muscle tissue, Ragged-red muscle fibers, Progressive external ophthalmop... ORPHA:663
Mucopolysaccharidosis, Type Iiid
Ovoid thoracolumbar vertebrae, Hirsutism, Coarse hair, Hyperactivity, Recurrent upper respiratory... OMIM:252940
Hadziselimovic Syndrome