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

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 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
Proximal muscle weakness in lower limbs, Distal sensory impairment, Proximal muscle weakness, Han... ORPHA:98856
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Difficulty walking, Incoordination, Distal sensory impairment, Paraparesis, Tip-toe gait, Hand tr... OMIM:302800
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Progressive distal muscular atrophy, Tongue fasciculations, Skeletal muscle atrophy, Gowers sign,... OMIM:159950
Congenital Heart Defects, Multiple Types, 7
Aortopulmonary collateral arteries, Absence of the pulmonary valve, Tetralogy of Fallot, Right ao... OMIM:618780
Cardiomyopathy, Dilated, 1R
Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular n... OMIM:613424
Amyotrophic Lateral Sclerosis 2, Juvenile
Spasticity, Amyotrophic lateral sclerosis, Difficulty walking, Abnormal exteroceptive sensation, ... OMIM:205100
Ethanolaminosis
Cardiomegaly OMIM:227150
Spinal Muscular Atrophy, Type Iii
Shoulder girdle muscle atrophy, Tongue fasciculations, Distal amyotrophy, Lower limb muscle weakn... OMIM:253400
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Ciliary Dyskinesia, Primary, 40
Unbalanced atrioventricular canal defect, Atrioventricular canal defect, Azoospermia, Congenitall... OMIM:618300
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Temporal cortical atrophy, Tetraparesis, Limb muscle weakness, Myopathy, Proximal muscle weakness... OMIM:167320
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Distal amyotrophy, Decreased motor nerve conduction velocity, Tip-toe gait, Fasciculations, Foot ... OMIM:614436
Familial Infantile Bilateral Striatal Necrosis
Spasticity, Lower limb muscle weakness, Tetraparesis, Loss of ambulation, Ataxia, Spastic tetrapa... ORPHA:225154
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Tongue fasciculations, Distal amyotro... OMIM:601596
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal coronary artery morphology, Biventricular hypertrophy, Abnormal mitral valve morphology,... ORPHA:860
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Increased variability in muscle fiber diameter, Weakness of muscles of respiration, Amyotrophic l... ORPHA:52430
Pseudoxanthoma Elasticum
Restrictive cardiomyopathy, Mitral valve prolapse, Excessive wrinkled skin, High palate, Gastroin... ORPHA:758
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hand tremor, Fasciculations, Distal sensory impairment, Proximal muscle weakness, Axonal degenera... OMIM:604484
Amegakaryocytic Thrombocytopenia, Congenital, 1
Megakaryocytopenia, Pancytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia OMIM:604498
Aortic Arch Anomaly With Peculiar Facies And Impaired Intellectual Development
Right aortic arch with mirror image branching OMIM:107500
Atrioventricular Septal Defect, Susceptibility To, 2
Atrioventricular canal defect, Pulmonary artery atresia, Right aortic arch with mirror image bran... OMIM:606217
Genitopalatocardiac Syndrome
Ventricular septal defect, Right aortic arch, Double outlet right ventricle, Transposition of the... OMIM:231060
Charcot-Marie-Tooth Disease, Type 4A
Hypertrophic nerve changes, Distal amyotrophy, Decreased motor nerve conduction velocity, Basal l... OMIM:214400
Heterotaxy, Visceral, 12, Autosomal
Ventricular septal defect, Discordant atrioventricular connection, Single coronary artery origin,... OMIM:619702
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Increased varia... OMIM:613954
Juvenile Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis, Difficulty walking, Muscle fiber atrophy, Axial dystonia, Proximal... ORPHA:300605
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Bronchiolitis, Skeletal muscle atrophy, Atelectasis, Axial muscle atrophy, Frequent falls, Genera... ORPHA:254361
Spinal Muscular Atrophy, Type Iv
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... OMIM:271150
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Distal amyotrophy, Cerebellar atrophy, Muscle weakness, Chorea, Limb ataxia, Gait ataxia, Distal ... OMIM:208920
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Increased varia... OMIM:618138
Emanuel Syndrome
Aortic valve stenosis, Micrognathia, Congenital diaphragmatic hernia, Cryptorchidism, Ventricular... OMIM:609029
Myopathy And Diabetes Mellitus
Impaired vibratory sensation, Sternocleidomastoid amyotrophy, Weakness of orbicularis oculi muscl... ORPHA:2596
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Upper limb muscle weakness, Lower limb muscle weakness, Foot dorsiflexor weakness, Distal sensory... OMIM:616155
Spinal Muscular Atrophy, Type Ii
Tongue fasciculations, Degeneration of anterior horn cells, Skeletal muscle atrophy, Hand tremor,... OMIM:253550
Galloway-Mowat Syndrome 3
Hypoalbuminemia, Cerebellar atrophy, Failure to thrive, Pachygyria, Stage 5 chronic kidney diseas... OMIM:617729
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta, Macular coloboma, Retinal coloboma OMIM:107550
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Cerebral atrophy, Tetraparesis, Abnormal ... OMIM:105550
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Arthrogryposis-like hand anomaly, Skeletal muscle atrophy, Frequent falls, Recurrent acute respir... OMIM:620011
Arts Syndrome
Optic atrophy, Recurrent upper respiratory tract infections, Spinal cord posterior columns myelin... OMIM:301835
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, Hypertrophic cardiomyopa... OMIM:612158
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypoalbuminemia, Small for gestational age, Second degree atrioventricular block, Increased mean ... OMIM:617021
Mitochondrial Dna Depletion Syndrome 18
Tongue fasciculations, Distal amyotrophy, Falls, Failure to thrive, Foot dorsiflexor weakness, Ha... OMIM:618811
Emanuel Syndrome
Aortic valve stenosis, Tooth malposition, Chiari malformation, Micrognathia, Congenital diaphragm... ORPHA:96170
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Arrhyt... ORPHA:216694
Amyotrophic Lateral Sclerosis 27, Juvenile
Tongue fasciculations, Tip-toe gait, Lower limb muscle weakness, Angulated muscle fibers, General... OMIM:620285
Amyotrophic Lateral Sclerosis 8
Distal amyotrophy, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Fasciculations, Postur... OMIM:608627
Inherited Creutzfeldt-Jakob Disease
Abnormal pyramidal sign, Neuronal loss in central nervous system, Bradykinesia, Slurred speech, P... ORPHA:282166
Aapoaiv Amyloidosis
Chronic kidney disease, Sinus bradycardia, Left bundle branch block, Glomerular sclerosis, Abnorm... ORPHA:439232
Oculopharyngodistal Myopathy
Vocal cord paresis, Difficulty walking, Paraplegia, Loss of ambulation, Weight loss, Tibialis mus... ORPHA:98897
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Macular degeneration, Choroidal neovascu... OMIM:264800
Amyotrophic Lateral Sclerosis 4, Juvenile
Distal amyotrophy, Amyotrophic lateral sclerosis, Difficulty walking, Decreased compound muscle a... OMIM:602433
Microphthalmia, Syndromic 9
Micrognathia, Congenital diaphragmatic hernia, Cryptorchidism, Ventricular septal defect, Neonata... OMIM:601186
Congenital Tracheomalacia
Ventricular septal defect, Atrial septal defect, Single ventricle, Double aortic arch, Patent duc... ORPHA:95430
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Webbed neck, Abnormal aortic morphology, Ventricular septal defect, Truncus arteriosus, Short neck ORPHA:2516
Monomelic Amyotrophy
Degeneration of anterior horn cells, Fasciculations, Distal upper limb amyotrophy, Abnormality of... ORPHA:65684
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Left ventricular noncompaction, Left ventricular hypertrophy, Dilated cardiomyopathy, Endocardial... OMIM:601493
Mucopolysaccharidosis-Plus Syndrome
Chorioretinal hypopigmentation, Death in childhood, Low posterior hairline, Short neck, Atrial se... OMIM:617303
14Q24.1Q24.3 Microdeletion Syndrome
Long philtrum, Abnormal heart morphology, Intestinal malrotation, Limited elbow extension and sup... ORPHA:401935
Congenital Heart Defects, Multiple Types, 6
Total anomalous pulmonary venous return, Secundum atrial septal defect, Tetralogy of Fallot, Righ... OMIM:613854
Nephrotic Syndrome, Type 11
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Hypoalbuminemia, Dilated c... OMIM:616730
Velocardiofacial Syndrome
Interrupted aortic arch, Right aortic arch with mirror image branching, Retrognathia, Retinal vas... OMIM:192430
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect OMIM:125520
Galloway-Mowat Syndrome 7
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Dilated cardiomyopathy, Cl... OMIM:618348
Neuropathy, Hereditary Motor And Sensory, Russe Type
Distal upper limb muscle weakness, Decreased motor nerve conduction velocity, Difficulty walking,... OMIM:605285
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Decreased motor nerve conduction velocity, Cerebral atrophy, Chorea, Peripheral demyelination, Ax... OMIM:604168
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Truncus arteriosus, Coarctation of aorta, Transposition o... OMIM:217095
Double Outlet Right Ventricle
Hypoplastic left heart, Pulmonary artery atresia, Failure to thrive, Aplasia/Hypoplasia of the th... ORPHA:3426
Cockayne Syndrome Type 3
Carious teeth, Aortic root aneurysm, Premature graying of hair, Hepatomegaly, Optic disc pallor, ... ORPHA:90324
Marinesco-Sjogren Syndrome
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Spasticity, Skeletal muscle atrophy,... OMIM:248800
Cardiomyopathy, Dilated, 1Gg
Left ventricular noncompaction, Dilated cardiomyopathy OMIM:613642
22Q11.2 Duplication Syndrome
Interrupted aortic arch, Hypoplastic left heart, Aplasia/Hypoplasia of the thymus, Tetralogy of F... ORPHA:1727
Alpha-B Crystallin-Related Late-Onset Myopathy
Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Accumulation of mu... ORPHA:399058
Acute Erythroid Leukemia
Bone marrow hypocellularity, Pancytopenia, Leukopenia, Bone marrow hypercellularity, Erythroid hy... ORPHA:318
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Sensory axonal neuropathy, Cardiomyopathy, Cerebral atrophy, Hypogonadism, Limb muscle weakness, ... OMIM:609286
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Proximal muscle weakness in upper limbs, Leg muscle stiffness, Ankle weakness, Cardiomyopathy, He... ORPHA:98912
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Congenital shortened small intestine, Dilatation of the renal pelvis, Chiari malformation, Microg... OMIM:265380
Desminopathy
Spinal rigidity, Atrioventricular block, Congestive heart failure, Difficulty walking, Concentric... ORPHA:98909
Congenital Myopathy 10B, Mild Variant
Increased variability in muscle fiber diameter, Difficulty walking, Neck muscle weakness, Limb mu... OMIM:620249
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Distal sensory impairment, Paresis of extensor muscles of the big toe, Poor fine motor coordinati... ORPHA:99947
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Increased variability in muscle fiber diameter, Resting tremor, Limb muscle weakness, Rhabdomyoly... OMIM:157640
Myopathy, Scapulohumeroperoneal
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal... OMIM:616852
Verheij Syndrome
Renal hypoplasia, Small for gestational age, Renal agenesis, Branchial cyst, Retrognathia, Long p... OMIM:615583
Schimke Immuno-Osseous Dysplasia
Nephropathy, Minimal change glomerulonephritis, Shallow acetabular fossae, Lymphopenia, Abnormal ... ORPHA:1830
Cockayne Syndrome
Carious teeth, Absence of pubertal development, Reduced subcutaneous adipose tissue, Cryptorchidi... ORPHA:191
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Paralysis, Gliosis, Axonal loss, Dystonia, Athetosis OMIM:300857
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Distal amyotrophy, Failure to thrive, Denervation of the diaphragm, Camptodactyly of finger, Decr... OMIM:604320
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Tetralogy of Fallot, Micrognathia, Cyanosis, Cryptorchidism, Thin upper lip vermilion, Persistent... ORPHA:3304
Amyotrophic Lateral Sclerosis 11
Skeletal muscle atrophy, Somatic sensory dysfunction, Amyotrophic lateral sclerosis, Decreased ne... OMIM:612577
Congenital Heart Defects, Multiple Types, 9
Aortopulmonary collateral arteries, Cystic hygroma, Arteria lusoria, Unbalanced atrioventricular ... OMIM:620294
Autoimmune Hypoparathyroidism
Calcium nephrolithiasis, Depression, Hyperphosphatemia, Hypocalcemic tetany, Ventricular arrhythm... ORPHA:36913
Vocal Cord And Pharyngeal Distal Myopathy
Rimmed vacuoles, Vocal cord paresis, Amyotrophic lateral sclerosis, Ankle weakness, Shoulder gird... ORPHA:600
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Retinal arteriolar tortuosity, Dilatation of the cerebral artery, Retinal hemorrhage, Renal insuf... OMIM:611773
Heterotaxy, Visceral, 4, Autosomal
Common atrium, Total anomalous pulmonary venous return, Bilateral superior vena cava, Atrioventri... OMIM:613751
Structural Heart Defects And Renal Anomalies Syndrome
Interrupted aortic arch, Webbed neck, Tetralogy of Fallot, Elevated circulating creatinine concen... OMIM:617478
Timothy Syndrome
Pneumonia, Atrioventricular block, Bronchitis, Tetralogy of Fallot, Hypocalcemia, Patent foramen ... OMIM:601005
Left Ventricular Noncompaction 1
Hypoplastic left heart, Left ventricular noncompaction, Left ventricular noncompaction cardiomyop... OMIM:604169
Pontocerebellar Hypoplasia, Type 1A
Cerebral cortical atrophy, Degeneration of anterior horn cells, Distal amyotrophy, Congenital con... OMIM:607596
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Bone marrow hypocellularity, Megakaryocyte dysplasia, Increased mean corpuscular volume, Pancytop... OMIM:619041
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism OMIM:183350
22Q11.2 Deletion Syndrome
Carious teeth, Micrognathia, Narrow mouth, Cryptorchidism, Ventricular septal defect, Short neck,... ORPHA:567
Ciliary Dyskinesia, Primary, 37
Female infertility, Situs inversus totalis, Right aortic arch, Dextrocardia OMIM:617577
Pontocerebellar Hypoplasia Type 1
Optic atrophy, Degeneration of anterior horn cells, Cerebral cortical atrophy, Skeletal muscle at... ORPHA:2254
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Ventricular septal defect, Overriding aorta, Atrial septal defect, Patent ductus arteriosus, Vasc... OMIM:601927
Waldenström Macroglobulinemia
Normocytic anemia, Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Gingival bleeding, Leukemi... ORPHA:33226
Left Ventricular Noncompaction 10
Left ventricular noncompaction, Dilated cardiomyopathy OMIM:615396
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Cryptorchidism, Decreased body weight, Retinal detachment, Everted lower lip vermilion, High pala... OMIM:620371
Kallmann Syndrome-Heart Disease Syndrome
Aortic regurgitation, Pulmonary artery hypoplasia, Dilated cardiomyopathy, Renal agenesis, Conges... ORPHA:2326
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Homocystinuria, Methylmalonic aciduria, Failure to thrive, Elevated circulating propionylcarnitin... OMIM:614857
Gitelman Syndrome
Type II diabetes mellitus, Rhabdomyolysis, Parathyroid adenoma, Urinary incontinence, Ventricular... ORPHA:358
Bone Marrow Failure Syndrome 1
Bone marrow hypocellularity, Pancytopenia, Aplastic anemia OMIM:614675
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Webbed neck, Hydranencephaly, Ventricular septal defect, Truncus arteriosus OMIM:601355
Cardiomyopathy, Familial Restrictive, 3
Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Left axis de... OMIM:612422
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Amyotrophic Lateral Sclerosis 5, Juvenile
Spasticity, Distal amyotrophy, Amyotrophic lateral sclerosis, Fasciculations, Abnormal lower moto... OMIM:602099
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... ORPHA:75564
You-Hoover-Fong Syndrome
Double aortic arch, Coarctation of aorta, Vascular ring OMIM:616954
Fixed Subaortic Stenosis
Mitral regurgitation, Ventricular septal defect, Bicuspid aortic valve, Orthopnea, Patent ductus ... ORPHA:3092
Cleft-Limb-Heart Malformation Syndrome
Truncus arteriosus OMIM:215850
Amyotrophic Lateral Sclerosis 16, Juvenile
Amyotrophic lateral sclerosis, Lower limb muscle weakness, Loss of ambulation, Weakness of the in... OMIM:614373
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Broad-based gait, Decreased motor nerve conduction velocity, Decreased muscle mass, Inability to ... OMIM:615490
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Distal amyotrophy, Distal sensory impairment, Decreased number of peripheral myelinated nerve fib... OMIM:606482
Tropical Endomyocardial Fibrosis
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... ORPHA:75565
Cocaine Intoxication
Rhabdomyolysis, Pulmonary infiltrates, Hematuria, Pulmonary edema, Tachypnea, Glomerulonephritis,... ORPHA:90068
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Cerebral atrophy, Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Bulbar p... OMIM:105500
Sporadic Creutzfeldt-Jakob Disease
Spasticity, Cerebral atrophy, Astrocytosis, Myoclonus, Abnormality of extrapyramidal motor functi... ORPHA:204
3-Methylglutaconic Aciduria, Type V
3-Methylglutaric aciduria, Hypospadias, Optic atrophy, Dilated cardiomyopathy, Failure to thrive,... OMIM:610198
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Aortic valve stenosis, Carious teeth, Natal tooth, Chiari malformation, Cryptorchidism, Ventricul... ORPHA:353281
Andersen-Tawil Syndrome
Polymorphic and polytopic ventricular extrasystoles, Torsade de pointes, Bidirectional ventricula... ORPHA:37553
Amyotrophic Lateral Sclerosis 1
Degeneration of anterior horn cells, Spasticity, Skeletal muscle atrophy, Amyotrophic lateral scl... OMIM:105400
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Nephropathy, Telangiectasia, Apathy, Retinal neovascularization, Glomerular sclerosis, Abnormal r... ORPHA:247691
Machado-Joseph Disease Type 3
Degeneration of the striatum, Spasticity, Peripheral axonal neuropathy, Abnormal pyramidal sign, ... ORPHA:276244
Pseudoxanthoma Elasticum, Forme Fruste
High, narrow palate, Gastrointestinal hemorrhage, Macular degeneration, Medial calcification of l... OMIM:177850
Laing Early-Onset Distal Myopathy
Minicore myopathy, Proximal muscle weakness in lower limbs, Toe extensor amyotrophy, Dilated card... ORPHA:59135
Heterotaxy, Visceral, 7, Autosomal
Interrupted aortic arch, Common atrium, Pulmonary artery hypoplasia, Total anomalous pulmonary ve... OMIM:616749
Williams Syndrome
Carious teeth, Micrognathia, Mitral regurgitation, Ventricular septal defect, Patent ductus arter... ORPHA:904
Absence Of The Pulmonary Artery
Abnormal hemidiaphragm morphology, Abnormal coronary artery morphology, Pulmonary edema, Orthopne... ORPHA:980
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Increased variability in muscle fiber diameter, Rhabdomyolysis, 3-Methylglutaconic aciduria, Hepa... ORPHA:17
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Elevated circulating luteinizing hormone level, Dilated cardiomyopathy, Premature coronary artery... OMIM:300845
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Hypoplastic left heart, Abnormal aortic arch morphology, Arteria lusoria, Failure to thrive, Abno... ORPHA:99050
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Cerebral cortical atrophy, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Fasciculations... OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Cerebral cortical atrophy, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Fasciculations... OMIM:616437
Glycogen Storage Disease Of Heart, Lethal Congenital
Biventricular hypertrophy, Myopathy, Pulmonary edema, Increased myocardial glycogen content, Vent... OMIM:261740
Scimitar Syndrome
Abnormal hemidiaphragm morphology, Anomalous origin of left coronary artery from the pulmonary ar... ORPHA:185
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Truncal titubation, Impaired vibration sensation in the lower limbs, Abnormal sensory nerve condu... ORPHA:88628
Spinal Muscular Atrophy, X-Linked 2
Tongue fasciculations, Scoliosis, Decreased compound muscle action potential amplitude, Multiple ... OMIM:301830
Heterotaxy, Visceral, 6, Autosomal
Hypoplastic left heart, Total anomalous pulmonary venous return, Unbalanced atrioventricular cana... OMIM:614779
Arteriovenous Malformations Of The Brain
Cerebral arteriovenous malformation OMIM:108010
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Cerebral cortical atrophy, Inappropriate behavior, Astrocytosis, Myoclonus, Rigidity, Babinski si... OMIM:600795
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Pseudocoarctation of the aorta, Bicuspid aortic valve, Patent ductus arteriosus ORPHA:228190
Amyotrophic Lateral Sclerosis
Progressive distal muscular atrophy, Spasticity, Skeletal muscle atrophy, Upper limb muscle weakn... ORPHA:803
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Adams-Oliver Syndrome 6
Renal hypoplasia, Tricuspid regurgitation, Cutis marmorata, Portal hypertension, Splenomegaly, Tr... OMIM:616589
Schimke Immunoosseous Dysplasia
Shallow acetabular fossae, Lymphopenia, Pancytopenia, Short neck, Neutropenia, Nephrotic syndrome... OMIM:242900
Chloramphenicol Toxicity
Aplastic anemia OMIM:515000
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Ophthalmoparesis, Recurrent pneumonia, Skeletal muscle atrophy, Difficulty walking, Failure to th... ORPHA:254875
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Congenital hip dislocation, Carious teeth, Failure to thrive, Decreased muscle mass, Prominent ve... ORPHA:357074
Congenital Heart Block
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... ORPHA:60041
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Fasciculations, Proximal amyotrophy, Gait disturbance, Neuronal lo... OMIM:608030
Progressive Non-Fluent Aphasia
Temporal cortical atrophy, Frontotemporal cerebral atrophy, Astrocytosis, Abnormality of extrapyr... ORPHA:100070
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Medial calcification of large arteries, Adrenal calcification, Retinal h... ORPHA:51608
Left Ventricular Noncompaction 8
Left ventricular noncompaction, Dilated cardiomyopathy OMIM:615373
Stankiewicz-Isidor Syndrome
Retrognathia, Micrognathia, Cryptorchidism, Truncus arteriosus, Ventricular septal defect, Abnorm... OMIM:617516
Skraban-Deardorff Syndrome
Right aortic arch, Ventricular septal defect OMIM:617616
Adrenomyeloneuropathy
Spasticity, Frontal balding, Distal sensory impairment, Atrophy/Degeneration involving the cortic... ORPHA:139399
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Ventricular hypertrophy, Decreased muscle glycogen content, Cardiomyopathy, Decreased muscle mass... ORPHA:263297
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Abnormal B cell morphology, Webbed neck, Cleft lip, Decreased response to growth hormone stimulat... OMIM:618223
Pseudo-Torch Syndrome 2
Secundum atrial septal defect, Polymicrogyria, Pleural effusion, Bradycardia, Petechiae, Cerebell... OMIM:617397
Crimean-Congo Hemorrhagic Fever
Gingival bleeding, Pancytopenia, Retinal hemorrhage, Hematuria, Neutrophilia, Hepatomegaly, Tachy... ORPHA:99827
Truncus Arteriosus
Abnormal coronary artery morphology, Ventricular septal defect, Pulmonary edema, Tachypnea, Singl... ORPHA:3384
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Interrupted aortic arch, Hyperbilirubinemia, Absent gallbladder, Hypocalcemia, Cryptorchidism, Ve... ORPHA:163979
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hyperbilirubinemia, Hip contracture, Abnormal renal cortex morphology, Abnormality of the kidney,... ORPHA:464321
Finnish Upper Limb-Onset Distal Myopathy
Rimmed vacuoles, Joint contracture of the hand, Difficulty walking, Progressive distal muscle wea... ORPHA:399086
Acquired Aneurysmal Subarachnoid Hemorrhage
Vasospasm, Congestive heart failure, Hypopituitarism, Ischemic stroke, Cerebral ischemia, Leukocy... ORPHA:90065
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Spastic paraparesis, Resting tremor, Neurodegeneration, Incoordination, Paraparesis, Gait apraxia... OMIM:615157
Distal Duplication 14Q
Patent ductus arteriosus, Abnormal aortic morphology ORPHA:1705
Chromosome 22Q11.2 Deletion Syndrome, Distal
Truncus arteriosus OMIM:611867
Partial Atrioventricular Septal Defect
Aortic valve stenosis, Mitral regurgitation, Bicuspid aortic valve, Patent ductus arteriosus, Hyp... ORPHA:1330
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Distal amyotrop... OMIM:607706
Autosomal Dominant Coarctation Of Aorta
Hypoplastic left heart, Abnormal aortic arch morphology, Aortic arch aneurysm, Ventricular septal... ORPHA:1455
Coenzyme Q10 Deficiency, Primary, 7
Hypoplastic left heart, Hypertrophic cardiomyopathy, Ventricular septal defect, Cerebellar hypopl... OMIM:616276
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Skeletal muscle atrophy, Difficulty walking, Distal sensory impairment, Peripheral axonal neuropa... OMIM:613710
Fabry Disease
Nephropathy, Angiokeratoma, Mitral regurgitation, Hematuria, Arrhythmia, Achalasia, Nephrotic syn... ORPHA:324
Infantile Refsum Disease
Optic atrophy, Spasticity, Failure to thrive, Cardiomyopathy, Arrhythmia, Progressive muscle weak... ORPHA:772
Distal Anoctaminopathy
Proximal muscle weakness in upper limbs, Distal amyotrophy, Difficulty walking, Rhabdomyolysis, D... ORPHA:399096
Acrocardiofacial Syndrome
Joint dislocation, Cleft upper lip, Camptodactyly of finger, Tetralogy of Fallot, Mitral stenosis... ORPHA:2008
Heterotaxy, Visceral, 8, Autosomal
Aortopulmonary collateral arteries, Hypoplastic left heart, Unbalanced atrioventricular canal def... OMIM:617205
Alport Syndrome
Thickened glomerular basement membrane, IgA deposition in the glomerulus, Renal glomerular foam c... ORPHA:63
Acute Panmyelosis With Myelofibrosis
Bone marrow hypocellularity, Abnormality of bone marrow stromal cells, Acute myelomonocytic leuke... ORPHA:86843
Eisenmenger Syndrome
Abnormal circulating B-type natriuretic peptide concentration, Ventricular septal defect, Elevate... ORPHA:97214
Gaucher Disease, Type Ii
Recurrent aspiration pneumonia, Bronchiolitis, Failure to thrive, Apnea, Splenomegaly, Death in i... OMIM:230900
Amyotrophic Lateral Sclerosis 21
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... OMIM:606070
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Cryptorchidism, Death in infancy, Bradycardi... OMIM:618815
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Failure to thrive, Congestive heart failure, Apnea, Decreased plasma fre... OMIM:619048
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Pseudocoarctation of the aorta, Bicuspid aortic valve, Patent ductus arteriosus OMIM:604381
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Apnea, Death in infancy, Ventricular septal defect, Atrophy/Degenera... OMIM:616277
Ogden Syndrome
Large posterior fontanelle, Everted upper lip vermilion, Delayed cranial suture closure, Torsade ... OMIM:300855
Autosomal Recessive Centronuclear Myopathy
Centrally nucleated skeletal muscle fibers, Ophthalmoparesis, Generalized amyotrophy, Facial dipl... ORPHA:169186
Charcot-Marie-Tooth Disease Type 4A
Vocal cord paresis, Joint contracture of the hand, Distal sensory impairment, Unsteady gait, Impa... ORPHA:99948
Short Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Optic atrophy, Failure to thrive, Cardiomyopath... ORPHA:26792
Distal Nebulin Myopathy
Nemaline bodies, Ankle flexion contracture, Sternocleidomastoid amyotrophy, Cardiomyopathy, Slend... ORPHA:399103
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Spasticity, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Babinski sign, Respiratory in... OMIM:612069
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Proximal muscle weakness in lower limbs, Vocal cord paresis, Peripheral demyelination, Distal sen... ORPHA:101097
8Q24.3 Microdeletion Syndrome
Ectopic posterior pituitary, Branchial cyst, Ventricular septal defect, Short neck, Abnormality o... ORPHA:508488
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Lymphopenia, Hepatosplenomegaly, Mitral regurgitation, Myopathy, Cryptorchidism, Oral ulcer, Neut... OMIM:612541
Apert Syndrome
Lambdoidal craniosynostosis, Synostosis of carpal bones, Delayed cranial suture closure, Large fo... OMIM:101200
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... OMIM:615779
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Micrognathia, Ventricular septal defect, Bicuspid aortic valve, Abnormal optic disc morphology, S... ORPHA:508498
Amegakaryocytic Thrombocytopenia, Congenital, 2
Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia OMIM:620481
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Skeletal muscle atrophy, Polymicrogyria, Mitral regurgitation, Knee flexion contracture, Ventricu... OMIM:603387
Rubinstein-Taybi Syndrome 1
Delayed cranial suture closure, Micrognathia, Narrow mouth, Cryptorchidism, Mitral valve prolapse... OMIM:180849
Amyotrophy, Hereditary Neuralgic
Skeletal muscle atrophy, Brachial plexus neuropathy, Axonal degeneration, Peripheral axonal degen... OMIM:162100
Infantile-Onset X-Linked Spinal Muscular Atrophy
Ankle flexion contracture, Tongue fasciculations, Abnormal anterior horn cell morphology, Skeleta... ORPHA:1145
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Optic atrophy, Failure to thrive, Cardiomyopathy, Respiratory distress, Renal insufficiency, Sple... ORPHA:79312
Idiopathic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Acute kidney injury, Hypoa... ORPHA:567548
Glycogen Storage Disease Due To Acid Maltase Deficiency
Lower limb muscle weakness, Orthopnea, Hepatomegaly, Vasculitis, Hypertrophic cardiomyopathy, Tho... ORPHA:365
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Distal amyotrophy, Long philtrum, Abnormal heart morphology, Failure to thrive in infancy, Foot d... ORPHA:477817
Coronary Arterial Fistula
Aortic valve stenosis, Bicuspid aortic valve, Tachypnea, Arrhythmia, Orthopnea, Elevated jugular ... ORPHA:2041
Triosephosphate Isomerase Deficiency
Spasticity, Skeletal muscle atrophy, Failure to thrive, Cerebral atrophy, Congestive heart failur... OMIM:615512
Meacham Syndrome
Death in childhood, Ventricular septal defect, Neonatal death, Bicuspid aortic valve, Atrial sept... OMIM:608978
Duchenne Muscular Dystrophy
Skeletal muscle atrophy, Cardiomyopathy, Proximal muscle weakness, Progressive muscle weakness, C... ORPHA:98896
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Retinal exudate, Gastrointestinal hemorrhage, Macular edema, Punctate vasculitis skin lesions, Te... OMIM:192315
1Q21.1 Microdeletion Syndrome
Interrupted aortic arch, Depression, Failure to thrive, Long philtrum, Ankyloglossia, Vesicourete... ORPHA:250989
Digeorge Syndrome
Micrognathia, Intervertebral disk degeneration, Ovarian cyst, Ventricular septal defect, Patellar... OMIM:188400
Amyotrophic Lateral Sclerosis 19
Loss of ambulation, Amyotrophic lateral sclerosis, Respiratory insufficiency due to muscle weakness OMIM:615515
Amyotrophic Lateral Sclerosis 9
Distal amyotrophy, Spasticity, Distal muscle weakness, Amyotrophic lateral sclerosis OMIM:611895
Lethal Congenital Contracture Syndrome 10
Increased variability in muscle fiber diameter, Narrow palate, Long philtrum, Stiff neck, Microgn... OMIM:617022
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Aortic valve stenosis, Carious teeth, Natal tooth, Chiari malformation, Micrognathia, Cryptorchid... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Aortic valve stenosis, Carious teeth, Natal tooth, Chiari malformation, Micrognathia, Cryptorchid... ORPHA:353277
Amyotrophic Lateral Sclerosis 18
Spasticity, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Fasciculations, Muscle weakness OMIM:614808
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2
Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Myeloid leukemia, Leukemia OMIM:614743
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Skeletal muscle autophagosome accumu... OMIM:619518
Mesangial sclerosis, diffuse renal, with ocular abnormalities
Optic atrophy, Retinal arteriolar constriction, Renal insufficiency, Diffuse mesangial sclerosis,... OMIM:249660
Chilton-Okur-Chung Neurodevelopmental Syndrome
Ankyloglossia, Micrognathia, Cryptorchidism, Chordee, Anterior pituitary hypoplasia, Hypospadias,... OMIM:619841
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Tongue fasciculations, Amyotrophic lateral sclerosis, Fasciculations, Loss of ambulation, Muscle ... OMIM:613435
Amyotrophic Lateral Sclerosis, Susceptibility To, 24
Spasticity, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Hippocampal atrophy, Tetrapar... OMIM:617892
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Pneumonia, Adrenal cortical sclerosis, Recurrent pneumonia, Failure to thrive, Lymphopenia, Autoi... OMIM:102700
Myofibrillar Myopathy 10
Ankle flexion contracture, Broad neck, Increased QRS voltage, Mandibular prognathia, Elbow flexio... OMIM:619040
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Carious teeth, Natal tooth, Branchial cyst, Ankyloglossia, Micrognathia, Aplasia of the thymus, A... OMIM:620186
Feingold Syndrome Type 1
Interrupted aortic arch, Nephritis, Renal dysplasia, Duodenal atresia, Abnormal heart morphology,... ORPHA:391641
Congenital Arthrogryposis With Anterior Horn Cell Disease
Abnormal anterior horn cell morphology, Skeletal muscle atrophy, Cerebral atrophy, Difficulty wal... OMIM:611890
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Vocal cord paresis, Broad-based gait, Distal amyotrophy, Decreased motor nerve conduction velocit... OMIM:614895
Craniofacioskeletal Syndrome
Interrupted aortic arch, Micrognathia, Large fontanelles, Hypocalcemia, Cryptorchidism, Ventricul... OMIM:300712
Monosomy 18Q
Aortic valve stenosis, Slender build, Open mouth, Mitral regurgitation, High palate, Patent ductu... ORPHA:1600
Distal Myotilinopathy
Distal amyotrophy, Cardiomyopathy, Difficulty walking, Progressive distal muscle weakness, Multip... ORPHA:98911
Renal-Hepatic-Pancreatic Dysplasia 2
Aortic valve stenosis, Abnormal lung lobation, Hypertrophic cardiomyopathy, Situs inversus totali... OMIM:615415
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Ventricular septal defect, Tachypnea, Arrhythmia, At... ORPHA:26793
Reni Syndrome
Focal segmental glomerulosclerosis, Hypoalbuminemia, Steroid-resistant nephrotic syndrome, Hypogo... OMIM:617575
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Limb muscle weakness, Muscle weakness, Amyotrophic lateral sclerosis, Fasciculations OMIM:619141
Transcobalamin Deficiency
Lymphopenia, Pancytopenia, Megaloblastic bone marrow, Thrombocytopenia, Neutropenia ORPHA:859
Tako-Tsubo Cardiomyopathy
Abnormal circulating B-type natriuretic peptide concentration, Dilatation of the ventricular cavi... ORPHA:66529
Pseudohypoparathyroidism Type 1B
Pituitary resistance to thyroid hormone, Depression, Hyperphosphatemia, Elevated circulating para... ORPHA:94089
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Arrhythmia, Hepatomegaly, High palate, Polycystic kidney dysplasia, Renal dysplasia, Polymicrogyr... OMIM:608836
Melas
Nephropathy, Erythema, Intestinal pseudo-obstruction, Type II diabetes mellitus, Myopathy, Hypopa... ORPHA:550
Biliary, Renal, Neurologic, And Skeletal Syndrome
Unbalanced atrioventricular canal defect, Dilatation of the renal pelvis, Dark urine, Hyperbiliru... OMIM:619534
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Distal sensory impairmen... OMIM:151800
Aicardi-Goutieres Syndrome 9
Thickened glomerular basement membrane, Hepatosplenomegaly, Weight loss, Glomerular sclerosis, He... OMIM:619487
Coenzyme Q10 Deficiency, Primary, 1
Focal segmental glomerulosclerosis, Cerebellar atrophy, Hypertrophic cardiomyopathy, Pancytopenia... OMIM:607426
Coenzyme Q10 Deficiency, Primary, 8
Small for gestational age, Respiratory distress, Elevated circulating creatinine concentration, L... OMIM:616733
Bethlem Muscular Dystrophy
Difficulty walking, Neck muscle weakness, Gowers sign, Spinal rigidity, Rimmed vacuoles, Ankle fl... ORPHA:610
Distal 22Q11.2 Microdeletion Syndrome
Aortic regurgitation, High, narrow palate, Depression, Branchial fistula, Camptodactyly of finger... ORPHA:261330
Isolated Atp Synthase Deficiency
Optic atrophy, Renal hypoplasia, Dilated cardiomyopathy, Cerebellar atrophy, Respiratory distress... ORPHA:254913
Charge Syndrome
Lymphopenia, Micrognathia, Cryptorchidism, Ventricular septal defect, Overriding aorta, Radial he... OMIM:214800
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Coarctation of aorta, Right aortic arch OMIM:140850
Neurodegeneration With Brain Iron Accumulation 6
Spastic paraparesis, Distal amyotrophy, Tip-toe gait, Neurodegeneration, Motor axonal neuropathy,... OMIM:615643
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Distal amyotrophy, Lower limb muscle weakness, Hand muscle weakness, Hand muscle atrophy, Weaknes... OMIM:607641
Focal Segmental Glomerulosclerosis 1
Focal segmental glomerulosclerosis, Hypoalbuminemia, Hyperechogenic kidneys, Stage 5 chronic kidn... OMIM:603278
Scorpion Envenomation
Erythema, Rhabdomyolysis, Pulmonary edema, Premature ventricular contraction, Tachypnea, Arrhythm... ORPHA:466677
45,X/46,Xy Mixed Gonadal Dysgenesis
Streak ovary, Micrognathia, Cryptorchidism, Low posterior hairline, Bicuspid aortic valve, Chorde... ORPHA:1772
Lambert Syndrome
Branchial anomaly, Ventricular septal defect ORPHA:1296
Linear Skin Defects With Multiple Congenital Anomalies 1
Junctional ectopic tachycardia, Iris coloboma, Pigmentary retinopathy, Colonic atresia, Anteriorl... OMIM:309801
Focal Segmental Glomerulosclerosis 2
Focal segmental glomerulosclerosis, Chronic kidney disease, Stage 5 chronic kidney disease, Prote... OMIM:603965
Galloway-Mowat Syndrome 6
Focal segmental glomerulosclerosis, Hypoalbuminemia, Cerebellar atrophy, Downturned corners of mo... OMIM:618347
Mucopolysaccharidosis, Type Vii
Hypoplasia of the odontoid process, Neurodegeneration, Postnatal growth retardation, Short neck, ... OMIM:253220
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Muscular dystrophy, Scapular muscle atrophy, Frequent falls, Proximal muscle weakness, Peroneal m... OMIM:611588
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Muscle fiber atrophy, Decreased body weight, Arrhythmia, Recurrent lower respiratory tract infect... ORPHA:258
Atrial Standstill
Left ventricular noncompaction, Arrhythmia, Atrial standstill, Muscular dystrophy, Abnormal heart... ORPHA:1344
Tricuspid Atresia
Hypoplasia of right ventricle, Patent foramen ovale, Ventricular septal defect, Persistent left s... ORPHA:1209
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Joint contracture of the hand, Distal amyotrophy, Difficulty walking, Scapuloperoneal amyotrophy,... OMIM:611067
Cardiomyopathy, Familial Hypertrophic, 13
Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... OMIM:613243
Peroxisome Biogenesis Disorder 5A (Zellweger)
Hepatosplenomegaly, Micrognathia, Large fontanelles, Mitral regurgitation, Cryptorchidism, Ventri... OMIM:614866
Aortic Arch Interruption
Ventricular septal defect, Bicuspid aortic valve, Tachypnea, Single ventricle, Patent ductus arte... ORPHA:2299
Cardiac Diverticulum
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Premature ventricular co... ORPHA:1686
Granulomatosis With Polyangiitis
Intestinal obstruction, Pulmonary infiltrates, Hematuria, Arrhythmia, Weight loss, Elevated circu... ORPHA:900
17Q24.2 Microdeletion Syndrome
Broad neck, Tooth malposition, Abnormality of the ankle, Failure to thrive in infancy, Abnormalit... ORPHA:529962
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Pulmonary artery atresia, Abnormal tricuspid valve morphology, Patent ductus arteriosus ORPHA:1208
Sporadic Pheochromocytoma/Secreting Paraganglioma
Paraganglioma of head and neck, Elevated urinary dopamine level, Sinus tachycardia, Elevated urin... ORPHA:276621
Cardiac-Urogenital Syndrome
Biventricular hypertrophy, Congenital diaphragmatic hernia, Cryptorchidism, Ventricular septal de... OMIM:618280
Atrial Septal Defect, Ostium Secundum Type
Mitral regurgitation, Abnormal mitral valve morphology, Arrhythmia, Orthopnea, Right atrial enlar... ORPHA:99103
Immunodeficiency 69
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A... OMIM:618963
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile
Nemaline bodies, Shoulder flexion contracture, Z-band streaming, Type 1 muscle fiber predominance... OMIM:605355
Cutis Laxa, Autosomal Recessive, Type Ic
Micrognathia, Large fontanelles, Death in childhood, Rectal prolapse, Multiple bladder diverticul... OMIM:613177
Dilated Cardiomyopathy With Ataxia
Optic atrophy, Diaphragmatic eventration, Dilated cardiomyopathy, Elevated circulating glutaric a... ORPHA:66634
Cerebrotendinous Xanthomatosis
Tendon xanthomatosis, Spastic paraparesis, Myelopathy, Resting tremor, Spasticity, Parkinsonism, ... ORPHA:909
Fabry Disease
Lipiduria, Congestive heart failure, Transient ischemic attack, Renal insufficiency, Angiokeratom... OMIM:301500
Heart And Brain Malformation Syndrome
Interrupted aortic arch, High, narrow palate, Cerebellar vermis hypoplasia, Cleft lip, Camptodact... OMIM:616920
Bronchogenic Cyst
Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal pleura morphology, Paresthesi... ORPHA:2357
Peroxisome Biogenesis Disorder 2A (Zellweger)
Aminoaciduria, Joint contracture of the hand, Pigmentary retinopathy, Failure to thrive, Abnormal... OMIM:214110
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Distal muscle weakness, Skeletal muscle atrophy, Amyotrophic lateral sclerosis OMIM:205250
Amish Nemaline Myopathy
Shoulder flexion contracture, Type 1 muscle fiber predominance, Hip contracture, Tremor, Progress... ORPHA:98902
Galloway-Mowat Syndrome 1
Focal segmental glomerulosclerosis, Hypoalbuminemia, Joint contracture of the hand, Optic atrophy... OMIM:251300
Combined Oxidative Phosphorylation Deficiency 31
Left ventricular noncompaction, Increased variability in muscle fiber diameter, Increased intramy... OMIM:617228
Galloway-Mowat Syndrome 2, X-Linked
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Cerebellar atrophy, Polymi... OMIM:301006
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Focal segmental glomerulosclerosis, Distal lower limb amyotrophy, Claw hand deformity, Foot dorsi... OMIM:614455
Lipodystrophy, Congenital Generalized, Type 4
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:613327
Oligomeganephronia
Branchial cyst, Micrognathia, Decreased numbers of nephrons, Congenital diaphragmatic hernia, Pul... ORPHA:2260
Distal 7Q11.23 Microdeletion Syndrome
Atrial septal defect, Patent ductus arteriosus ORPHA:254351
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Congenital diaphragmatic hernia, Ventricular septal defect, Atrial septal defect, Patent ductus a... ORPHA:2255
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Oligohydramnios, Cardiomegaly, Perimembranous ventricular septal def... OMIM:620135
Frontotemporal Dementia With Motor Neuron Disease
Generalized amyotrophy, Global brain atrophy, Tetraparesis, Fasciculations, Abnormal upper motor ... ORPHA:275872
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Ataxia OMIM:610951
Turner Syndrome Due To Structural X Chromosome Anomalies
Inflammation of the large intestine, Hyperinsulinemia, Genu valgum, Gastrointestinal angiodysplas... ORPHA:99413
Mosaic Monosomy X
Inflammation of the large intestine, Hyperinsulinemia, Genu valgum, Gastrointestinal angiodysplas... ORPHA:99228
Monosomy X
Inflammation of the large intestine, Hyperinsulinemia, Genu valgum, Gastrointestinal angiodysplas... ORPHA:99226
Turner Syndrome
Inflammation of the large intestine, Hyperinsulinemia, Genu valgum, Gastrointestinal angiodysplas... ORPHA:881
Aplastic Anemia
Bone marrow hypocellularity, Aplastic anemia OMIM:609135
Cardiogenic Shock
Mitral regurgitation, Arrhythmia, Elevated jugular venous pressure, Orthopnea, Hepatomegaly, ST s... ORPHA:97292
Long Qt Syndrome 16
Second degree atrioventricular block, T-wave alternans, Perimembranous ventricular septal defect,... OMIM:618782
Gaisböck Syndrome
Increased red blood cell count, Obesity, Elevated plasma cell count, Hypertriglyceridemia, Periph... ORPHA:90041
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Progressive cerebellar ataxia, Somatic sensory dysfunction, Fasciculations, Limb ataxia, Gait ata... ORPHA:95434
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Cerebral cortical atrophy, Amyotrophic lateral sclerosis, Proximal muscle weakness, Bulbar palsy,... OMIM:615911
Multifocal Motor Neuropathy
Fasciculations, Progressive distal muscle weakness, Limb muscle weakness, Progressive muscle weak... ORPHA:641
X-Linked Charcot-Marie-Tooth Disease Type 5
Abnormal nerve conduction velocity, Optic atrophy, Impaired pain sensation, Tremor, Gait disturba... ORPHA:99014
Behavioral Variant Of Frontotemporal Dementia
Frontotemporal cerebral atrophy, Inappropriate behavior, Fasciculations, Astrocytosis, Abnormalit... ORPHA:275864
Primary Triglyceride Deposit Cardiomyovasculopathy
Abnormality of the shoulder girdle musculature, Renal artery atherosclerosis, Arrhythmia, Hepatom... ORPHA:565612
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Abnormal aortic arch morphology, Carious teeth, Arteriovenous malformation, Hypoplasia of the zyg... ORPHA:1110
Galloway-Mowat Syndrome 4
Focal segmental glomerulosclerosis, Polymicrogyria, Stage 5 chronic kidney disease, Congenital ne... OMIM:617730
Mucopolysaccharidosis Type 3
Vocal cord paresis, Spasticity, Aspiration pneumonia, Loss of ambulation, Generalized hirsutism, ... ORPHA:581
Idiopathic Non-Lupus Full-House Nephropathy
Acute kidney injury, Elevated circulating creatinine concentration, Abnormal glomerular mesangium... ORPHA:567544
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria, Hypertension, Mi... OMIM:613237
Hereditary Pheochromocytoma-Paraganglioma
Hematuria, Weight loss, Glomerular sclerosis, Paraganglioma of head and neck, Aniridia, Palpitati... ORPHA:29072
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Optic atrophy, External ophthalmoplegia, Spastic paraplegia, Cerebellar atrophy, Spastic tetrapar... OMIM:612319
Ciliary Dyskinesia, Primary, 53
Situs inversus totalis, Right aortic arch, Patent foramen ovale, Cardiomegaly, Persistent left su... OMIM:620642
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria, Hematuria, Hypertension OMIM:607832
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tooth agenesis, Tetralogy of Fallot, Micrognathia, Vesicoureteral reflux, Congenital diaphragmati... ORPHA:1166
Congenital-Onset Steinert Myotonic Dystrophy
Myotonia, Bundle branch block, Obesity, Tented upper lip vermilion, Decreased body weight, First ... ORPHA:589821
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Hypoplastic a... OMIM:159550
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Elevated circulating acylcarnitine concentration, Optic atrophy, Ketonuria, Abnormal EKG, Hyperam... ORPHA:480864
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome
Ataxia, Sparse or absent eyelashes, Gait disturbance, Pili torti, Aplasia/Hypoplasia of the eyebr... ORPHA:2891
Monosomy 22
Contractures of the large joints, Retrognathia, Long philtrum, Hepatosplenomegaly, Open mouth, Jo... ORPHA:96123
Drug-Induced Lupus Erythematosus
Prolonged QTc interval, Petechiae, Elevated circulating creatine kinase concentration, Hematuria,... ORPHA:231111
Heterotaxy, Visceral, 1, X-Linked
Posteriorly placed anus, Ventricular septal defect, Bilateral trilobed lung, Atrial septal defect... OMIM:306955
Fanconi Anemia, Complementation Group T
Bone marrow hypocellularity, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Anemia OMIM:616435
Galloway-Mowat Syndrome 8
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Abnormal cer... OMIM:618349
Ethylene Glycol Poisoning
Episodic respiratory distress, Hematuria, Pulmonary edema, Tachypnea, Tachycardia, Hyperkalemia, ... ORPHA:31826
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Cerebral atrophy, Inability to walk, N... OMIM:617672
Giant Axonal Neuropathy
Spasticity, Falls, Difficulty walking, Limb muscle weakness, Pili canaliculi, Distal sensory impa... ORPHA:643
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Splenomegaly, Lymphocytosis, Neutropenia, Monocytosis, Leukemia, Autoimmune thrombo... OMIM:614470
Frontotemporal Dementia
Inappropriate laughter, Neuronal loss in central nervous system, Amyotrophic lateral sclerosis, P... OMIM:600274
3C Syndrome
Aortic valve stenosis, Chorioretinal coloboma, Micrognathia, Abnormal mitral valve morphology, Ve... ORPHA:7
Immunodeficiency 105
Reduced natural killer cell count, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Impaired lympho... OMIM:619924
Heart Defects, Congenital, And Other Congenital Anomalies
Total absence of the pericardium, Absent gallbladder, Congenital diaphragmatic hernia, Ventricula... OMIM:600001
Syndromic Diarrhea
Lymphopenia, Ventricular septal defect, Bicuspid aortic valve, Colitis, Atrial septal defect, Hep... ORPHA:84064
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Congenital nephrotic syndrome, Renal insufficiency, Hyperlipidemia, Proteinuria,... OMIM:256300
Galloway-Mowat Syndrome 10
Cerebellar atrophy, Congenital hypothyroidism, Stage 5 chronic kidney disease, Podocyte foot proc... OMIM:619609
Mesoaxial Hexadactyly And Cardiac Malformation
Ventricular septal defect, Atrial septal defect, Torticollis, Patent ductus arteriosus, Pulmonic ... OMIM:249670
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Cryptorchidism, Ventricular septal defect, Duplicated collecting system, Hepatomegaly, Hypospadia... OMIM:301056
Asbestos Intoxication
Cor pulmonale, Right ventricular failure, Abnormal pulmonary interstitial morphology, Atelectasis... ORPHA:2302
Lethal Congenital Contracture Syndrome 5
Centrally nucleated skeletal muscle fibers, Congenital contracture, Subdural hemorrhage, Death in... OMIM:615368
Catastrophic Antiphospholipid Syndrome
Pulmonary embolism, Arterial occlusion, Microangiopathic hemolytic anemia, Abnormal heart valve m... ORPHA:464343
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Vocal cord paresis, Distal amyotrophy, Difficulty walking, Abnormal motor nerve conduction veloci... OMIM:158580
Congenital Disorder Of Glycosylation, Type Ie
High, narrow palate, Ankle flexion contracture, Muscular dystrophy, Optic atrophy, Failure to thr... OMIM:608799
Galloway-Mowat Syndrome 5
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:617731
Wild Type Attr Amyloidosis
Aortic valve stenosis, Nephropathy, Abnormal pulmonary interstitial morphology, Congestive heart ... ORPHA:330001
Dextrocardia
Congenital hip dislocation, Webbed neck, Meckel diverticulum, Pancreatic hypoplasia, Abnormal EKG... ORPHA:1666
Ogden Syndrome
High, narrow palate, Cardiogenic shock, Microretrognathia, Everted upper lip vermilion, Delayed c... ORPHA:276432
Bardet-Biedl Syndrome 16
Bronchiolitis, Renal agenesis, Respiratory distress, Hypogonadism, Obesity, Stage 5 chronic kidne... OMIM:615993
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Dilated cardiomyopathy, Decreased circulating carnit... ORPHA:71212
Peters-Plus Syndrome
Micrognathia, Short lingual frenulum, Cryptorchidism, Ventricular septal defect, Limited elbow mo... OMIM:261540
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Pancytopenia OMIM:600546
Acitretin/Etretinate Embryopathy
Third degree atrioventricular block, Atrioventricular canal defect, Micrognathia, Conotruncal def... ORPHA:40366
Ataxia-Telangiectasia-Like Disorder 2
Absent pubertal growth spurt, Cerebellar atrophy, Neurodegeneration, Cutaneous telangiectasia, Co... OMIM:615919
Combined Oxidative Phosphorylation Deficiency 20
Left ventricular noncompaction, Hypertrophic cardiomyopathy OMIM:615917
Combined Oxidative Phosphorylation Deficiency 52
Aminoaciduria, Hypertrophic cardiomyopathy, Adrenal insufficiency, Renal insufficiency, Hyperglyc... OMIM:619386
Glycogen Storage Disease Xv
Cardiomyocyte hypertrophy, Type 1 muscle fiber predominance, T-wave inversion, Paroxysmal ventric... OMIM:613507
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Impaired vibratory sensation, Hypertrophic nerve changes, Decreased motor nerve conduction veloci... DECIPHER:29
Leptospirosis
Pulmonary hemorrhage, Macular cotton wool spot, Rhabdomyolysis, Arrhythmia, Hepatomegaly, Jaundic... ORPHA:509
Acute Interstitial Pneumonia
Ground-glass opacification, Pulmonary infiltrates, Tachypnea, Elevated circulating C-reactive pro... ORPHA:79126
Familial Hyperaldosteronism Type Iii
Epistaxis, Adrenal hyperplasia, Hypokalemia, Abnormal circulating renin, Left ventricular hypertr... ORPHA:251274
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Nemaline bodies, Increased variability in muscle fiber diameter, Increased endomysial connective ... OMIM:620265
Trisomy 20P
Platyspondyly, Highly arched eyebrow, Coarse hair, Abnormal form of the vertebral bodies, Camptod... ORPHA:261318
Patent Ductus Arteriosus 2
Patent ductus arteriosus OMIM:617035
Histiocytoid Cardiomyopathy
Junctional ectopic tachycardia, Ventricular septal defect, Pulmonary edema, Polycystic ovaries, T... ORPHA:137675
Lujo Hemorrhagic Fever
Hypotension, Oliguria, Atelectasis, Respiratory distress, Shock, Lymphopenia, Leukopenia, Renal i... ORPHA:319213
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Cirrhotic Cardiomyopathy
Abnormal circulating B-type natriuretic peptide concentration, Pulmonary edema, Arrhythmia, Eleva... ORPHA:57777
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Dilated cardiomyopathy, Left ventricular noncompaction, Hypertrophic cardiomyopathy, Ragged-red m... OMIM:252011
Mitochondrial Complex I Deficiency, Nuclear Type 13
Decreased circulating carnitine concentration, Failure to thrive, Hypertrophic cardiomyopathy, Ap... OMIM:618235
C1Q Deficiency 2
Atelectasis, Oral ulcer, Facial erythema, Elevated circulating C-reactive protein concentration, ... OMIM:620321
Myopathy, Myofibrillar, 4
Cardiomyopathy, Myofibrillar myopathy, Progressive distal muscle weakness, EMG: myopathic abnorma... OMIM:609452
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Distal amyotrophy, Upper limb muscle weakness, Decreased nerve conduction velocity, Foot dorsifle... OMIM:302802
Neonatal Lupus Erythematosus
Atrioventricular block, Dilated cardiomyopathy, Aplastic anemia, Abnormal bleeding, Abnormal hear... ORPHA:398124
Thrombotic Thrombocytopenic Purpura
Acute kidney injury, Microangiopathic hemolytic anemia, Renal insufficiency, Reticulocytosis, Dec... ORPHA:54057
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Elevated circulating cre... OMIM:617056
X-Linked Dominant Chondrodysplasia Punctata
Sparse eyebrow, Coarse hair, Hypoplastic cervical vertebrae, Kyphoscoliosis, Sparse eyelashes, Se... ORPHA:35173
Carnitine Deficiency, Systemic Primary
Decreased circulating carnitine concentration, Failure to thrive, Cardiomyopathy, Congestive hear... OMIM:212140
Bronchopulmonary Dysplasia
Small for gestational age, Right ventricular failure, Atelectasis, Respiratory distress, Emphysem... ORPHA:70589
Charge Syndrome
Chorioretinal coloboma, Narrow mouth, Cryptorchidism, Aqueductal stenosis, Iris coloboma, Patent ... ORPHA:138
Nephrotic Syndrome, Type 24
Focal segmental glomerulosclerosis, Renal cortical hyperechogenicity, Steroid-resistant nephrotic... OMIM:619263
Refractory Anemia With Excess Blasts
Abnormal mean corpuscular volume, Bone marrow hypocellularity, Abnormal bleeding, Palpitations, L... ORPHA:86839
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Mitral regurgitation, Ventricular septal defect, Persistent fetal circulat... ORPHA:363705
Intellectual Developmental Disorder, X-Linked 112
Enuresis nocturna, Enuresis, Dilatation of the renal pelvis, Volvulus, Abnormal heart morphology,... OMIM:301111
Muscular Dystrophy, Congenital, With Or Without Seizures
Proximal muscle weakness, Loss of ambulation, Progressive muscle weakness, Hypoglycosylation of a... OMIM:620166
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hypopl... ORPHA:2585
Glutaryl-Coa Dehydrogenase Deficiency
Chronic kidney disease, Glutaric aciduria, Joint dislocation, Subdural hemorrhage, Retinal hemorr... ORPHA:25
Distal Myopathy With Anterior Tibial Onset
Finger flexor weakness, Intrinsic hand muscle atrophy, Weakness of the intrinsic hand muscles, Li... ORPHA:178400
Attrv122I Amyloidosis
Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti... ORPHA:85451
Congenital Myopathy 8
Increased variability in muscle fiber diameter, Muscle fiber atrophy, Type 1 muscle fiber predomi... OMIM:618654
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Limb myoclonus, Lower limb muscle weakness, Frequent falls, Difficulty walking, Inability to walk... ORPHA:2590
Hurler Syndrome
Depression, Cardiomyopathy, Camptodactyly of finger, Abnormal heart valve morphology, Endocardial... ORPHA:93473
Hsd10 Disease
Optic atrophy, Spastic paraparesis, Frontotemporal cerebral atrophy, Postnatal growth retardation... ORPHA:391417
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Ventricular hypertrophy, Aortic root aneurysm, Lymphopenia, Pancytopenia, Micrognathia, Open mout... OMIM:620654
Simpson-Golabi-Behmel Syndrome
Multicystic kidney dysplasia, Supernumerary nipple, Congenital diaphragmatic hernia, Cryptorchidi... ORPHA:373
Incontinentia Pigmenti
Erythema, Delayed eruption of teeth, Congestive heart failure, Camptodactyly of finger, Supernume... ORPHA:464
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Congestive heart failure, Ventricular septal defect, Paroxysmal atrial tachycardia... ORPHA:49827
Lipoyltransferase 1 Deficiency
Cerebellar atrophy, Increased total bilirubin, Bradycardia, Death in infancy, Hyperprolinemia, Hy... OMIM:616299
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Limb-girdle muscular dystrophy, Limb muscle weakness, Arrhythmia, Left anterior fascicular block,... OMIM:181350
Congenital Left Ventricular Aneurysm
Congestive heart failure, Abnormal T-wave, Apnea, Abnormal left ventricle morphology, Arrhythmia,... ORPHA:1055
Adams-Oliver Syndrome 4
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Umbilical hernia OMIM:615297
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Hypertrophic cardiomyopathy, Left ventricular noncompaction, Patent ductus arteriosus OMIM:616501
Propionic Acidemia
Hyperglycinuria, Increased level of hippuric acid in urine, Cardiomyopathy, Failure to thrive, Pa... OMIM:606054
Recombinant Chromosome 8 Syndrome
Abnormality of the dentition, Joint contracture of the hand, Downturned corners of mouth, Thick l... OMIM:179613
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Skeletal muscle atrophy, Dicarboxylic aciduria, Hyperammo... ORPHA:42
Multifocal Atrial Tachycardia
Cryptorchidism, Ventricular septal defect, Tachypnea, Atrial septal defect, Atrioventricular valv... ORPHA:3282
Mucopolysaccharidosis, Type Iiid
Recurrent upper respiratory tract infections, Coarse hair, Cerebellar atrophy, Asymmetric septal ... OMIM:252940
Bardet-Biedl Syndrome 19
Hypoplastic left heart, Hypogonadism, Obesity, Partial atrioventricular canal defect, Ventricular... OMIM:615996
Leukoencephalopathy, Progressive, With Ovarian Failure
Spasticity, Cerebellar atrophy, Hand tremor, Neurodegeneration, Babinski sign, Apraxia, Ataxia, P... OMIM:615889
Cardiomyopathy, Familial Hypertrophic, 27
Impaired myocardial contractility, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyo... OMIM:618052
Viss Syndrome
Iliac artery aneurysm, Aortic root aneurysm, Tortuous cerebral arteries, Recurrent joint dislocat... OMIM:619472
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Distal amyotrophy, Amyotrophic lateral sclerosis OMIM:205200
Bannayan-Riley-Ruvalcaba Syndrome
Narrow palate, Abnormal large intestine morphology, Skeletal muscle atrophy, Arteriovenous malfor... ORPHA:109
Aorta Coarctation
Hypoplastic left heart, Tetralogy of Fallot, Coronary artery atherosclerosis, Stroke, Persistent ... ORPHA:1457
Andersen Cardiodysrhythmic Periodic Paralysis
Bidirectional ventricular ectopy, Micrognathia, High palate, Hypoplasia of the maxilla, Depressio... OMIM:170390
Distal Deletion 15Q
Multicystic kidney dysplasia, Genu valgum, Micrognathia, Congenital diaphragmatic hernia, Cryptor... ORPHA:1596
Bone Marrow Failure And Diabetes Mellitus Syndrome
Pancytopenia, T-cell acute lymphoblastic leukemias, Increased mean corpuscular volume OMIM:620044
Femoral-Facial Syndrome
Micrognathia, Humeroradial synostosis, Cryptorchidism, Ventricular septal defect, Limited elbow m... OMIM:134780
Cardiomyopathy, Dilated, 1Nn
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Mit... OMIM:615916
Nephrotic Syndrome, Type 9
Focal segmental glomerulosclerosis, Hypoalbuminemia, Steroid-resistant nephrotic syndrome, Stage ... OMIM:615573
Short-Rib Thoracic Dysplasia 12
Renal hypoplasia, Natal tooth, Lobulated tongue, Atelectasis, Hamartoma of tongue, Intestinal mal... OMIM:269860
Holoprosencephaly
Chorioretinal coloboma, Abnormality of the spleen, Congenital diaphragmatic hernia, Cryptorchidis... ORPHA:2162
Congenital Disorder Of Glycosylation, Type It
Aborted sudden cardiac death, Bifid uvula, Dilated cardiomyopathy, Micrognathia, Rhabdomyolysis, ... OMIM:614921
Coenzyme Q10 Deficiency, Primary, 6
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:614650
Nephrotic Syndrome, Type 3
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Proteinuria,... OMIM:610725
Distal Triplication 15Q
Dilatation of the renal pelvis, Retrognathia, Abnormal heart morphology, Horseshoe kidney, Large ... ORPHA:314588
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Erythema, Apnea, Open mouth, High palate, Ventricular septal defect, Bradycardia, Retinal hemorrh... OMIM:614653
Patent Ductus Arteriosus 3
Patent ductus arteriosus OMIM:617039
Patent Ductus Arteriosus 1
Patent ductus arteriosus OMIM:607411
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Failure to thrive, Generalized limb muscle atrophy, Ragged-red muscle fibers, Distichiasis, Progr... OMIM:600462
Noonan Syndrome With Multiple Lentigines
Webbed neck, Hypertrophic cardiomyopathy, Bundle branch block, Atrioventricular canal defect, Abn... ORPHA:500
Hypoplastic Left Heart Syndrome
Hypoplastic left heart, Mitral atresia, Mitral stenosis, Atrial septal defect, Hypoplastic aortic... ORPHA:2248
Microgastria-Limb Reduction Defect Syndrome
Multicystic kidney dysplasia, Elbow dislocation, Abnormality of the spleen, Esophagitis, Perineal... ORPHA:2538
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Increased variability in muscle fiber diameter, Cardiomegaly, Neonat... OMIM:614096
Genetic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Chronic kidney disease, Hy... ORPHA:656
Glycogen Storage Disease Iv
Skeletal muscle atrophy, Failure to thrive, Cardiomyopathy, Hepatosplenomegaly, Abnormal circulat... OMIM:232500
Al Amyloidosis
Xerostomia, Postural hypotension with compensatory tachycardia, Abnormal cardiac atrium morpholog... ORPHA:85443
Primary Pulmonary Hypoplasia
Abnormal pulmonary artery morphology, Secundum atrial septal defect, Failure to thrive, Abnormal ... ORPHA:2257
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Broad-based gait, Elevated bronchoalveolar lavage fluid neutrophil proportion, Atelectasis, Groun... OMIM:610978
Paternal Uniparental Disomy Of Chromosome 1
Abnormal dental enamel morphology, Hypercalcemia, Obesity, Abnormal retinal morphology on macular... ORPHA:251004
Cerebellar-Facial-Dental Syndrome
Inferior cerebellar vermis hypoplasia, Hypoplasia of the pons, Micrognathia, Cryptorchidism, Mitr... ORPHA:444072
Nephrotic Syndrome, Type 23
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Steroid-resistant nephroti... OMIM:619201
Spastic Paraplegia 79B, Autosomal Recessive
Tetraparesis, Neurodegeneration, Loss of ambulation, Ataxia, Impaired vibratory sensation, Spasti... OMIM:615491
Lethal Infantile Mitochondrial Myopathy
Lethargy, Renal insufficiency, Cardiomyopathy ORPHA:254857
Autosomal Dominant Polycystic Kidney Disease
Chronic kidney disease, Aortic root aneurysm, Abnormal urinary electrolyte concentration, Mitral ... ORPHA:730
Oculorenocerebellar Syndrome
Nephropathy, Glomerular sclerosis, Retinal degeneration OMIM:257970
C3 Glomerulopathy
Chronic kidney disease, Acute kidney injury, Glomerular extracapillary hypercellularity, Elevated... ORPHA:329918
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Coarse hair, Camptodactyly of finger, Joint contracture of the 5th finger, Brittle hair, Short st... ORPHA:1883
Trichodysplasia-Xeroderma Syndrome
Alopecia, Coarse hair, Sparse eyebrow, Sparse body hair, Trichorrhexis nodosa, Trichodysplasia, P... ORPHA:3361
Juvenile Primary Lateral Sclerosis
Spasticity, Skeletal muscle atrophy, Abnormal upper motor neuron morphology, Gait imbalance, Abno... ORPHA:247604
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Muscular dystrophy, Ileal atresia, Generalized limb muscle atrophy, Elevated circulating creatine... OMIM:615351
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Biventricular hypertrophy, Death in early adulthood, Elevated jugular venous pressure, Proximal a... OMIM:255160
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Bicuspid aortic valve, ... OMIM:618719
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic aciduria, Cardiomyopathy, Failure to thrive, Respiratory distress, Leukopenia, Stag... OMIM:251000
Pierson Syndrome
Skeletal muscle atrophy, Retinal vascular tortuosity, Hypopigmentation of the fundus, Hyperechoge... OMIM:609049
Amyotrophic Lateral Sclerosis 20
Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy, Amyotrophic lateral sclerosis OMIM:615426
Lethal Congenital Contracture Syndrome 8
Distal amyotrophy, Facial diplegia, Distal sensory impairment, Death in infancy, Neonatal death, ... OMIM:616287
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hepatosplenomegaly, Urinary glycosaminoglycan excretion, Heavy proteinuria, Mitral regurgitation,... ORPHA:505248
Nephrotic Syndrome, Type 4
Focal segmental glomerulosclerosis, Renal insufficiency, Nephroblastoma, Diffuse mesangial sclero... OMIM:256370
Cockayne Syndrome Type 1
Cryptorchidism, Delayed eruption of primary teeth, Anodontia, Hepatomegaly, Cutaneous photosensit... ORPHA:90321
D-Glyceric Aciduria
Aminoaciduria, Failure to thrive, Patent ductus arteriosus, Bradycardia, Micropenis, Elevated cir... OMIM:220120
Immunodeficiency, Common Variable, 13
Pancytopenia, Acute lymphoblastic leukemia, B lymphocytopenia OMIM:616873
Spastic Paraplegia, Sensorineural Deafness, Impaired Intellectual Development, And Progressive Nephropathy
Focal segmental glomerulosclerosis, Nephropathy, IgA deposition in the glomerulus OMIM:182690
Nephrotic Syndrome, Type 26
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Steroid-r... OMIM:620049
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Unilateral renal agenesis, Cerebellar vermis hypoplasia, Small for gestational age, Failure to th... OMIM:620024
Bohring-Opitz Syndrome
Micrognathia, Severe failure to thrive, Bilateral wrist flexion contracture, Cholelithiasis, Clef... ORPHA:97297
Mitochondrial Complex I Deficiency, Nuclear Type 37
Skeletal muscle atrophy, Failure to thrive, Cerebellar atrophy, Respiratory distress, Stroke-like... OMIM:619272
Nephrotic Syndrome, Type 21
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome... OMIM:618594
Pyruvate Dehydrogenase E3 Deficiency
Increased urine alpha-ketoglutarate concentration, Elevated circulating branched chain amino acid... ORPHA:2394
Myotubular Myopathy With Abnormal Genital Development
Centrally nucleated skeletal muscle fibers, Retrognathia, Atelectasis, Bilateral cryptorchidism, ... OMIM:300219
Immunodeficiency 21
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Megakaryocyte nucleus hypolobula... OMIM:614172
Amyotrophic Lateral Sclerosis 23
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis OMIM:617839
Hadziselimovic Syndrome
Ventricular hypertrophy, Renal hypoplasia, Failure to thrive, Thick lower lip vermilion, Tetralog... OMIM:612946
Infantile Sialic Acid Storage Disease
Failure to thrive, Congestive heart failure, Gingival overgrowth, Splenomegaly, Death in childhoo... OMIM:269920
Farber Disease
Recurrent upper respiratory tract infections, Macular degeneration, Skeletal muscle atrophy, Fail... ORPHA:333
Ventricular Septal Defect 3
Pulmonary artery stenosis, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:614432
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria... OMIM:616002
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Aortic root aneurysm, Mitral regurgitation, Cryptorchidism, Ventricular septal defect, Low poster... OMIM:617506
Pulmonary Alveolar Microlithiasis
Ground-glass opacification, Oxygen desaturation on exertion, Stippled calcification in carpal bon... ORPHA:60025
Nephrotic Syndrome, Type 17
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:618176
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Pulmonary embolism, Prolonged bleeding time, Congestive heart failur... ORPHA:90308
Lethal Congenital Contracture Syndrome 7
Cerebellar atrophy, Skeletal muscle atrophy, Cerebral atrophy, Facial diplegia, Knee flexion cont... OMIM:616286
Bacterial Toxic-Shock Syndrome
Abscess, Tachypnea, Glomerulonephritis, Tachycardia, Shock, Elevated circulating creatinine conce... ORPHA:36234
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Limb-girdle muscular dystrophy, Cerebral atrophy, Difficulty walking, Chorea, Myopathy, Hyperkine... ORPHA:369847
Ane Syndrome
Alopecia, Multiple joint contractures, Kyphoscoliosis, Hypogonadotropic hypogonadism, Delayed pub... ORPHA:157954
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Elevated circulating acylcarnitine concentration, Optic atrophy, Ketonuria, Torsade de pointes, H... OMIM:616878
Lymphoproliferative Syndrome, X-Linked, 2
Splenomegaly, Pancytopenia, Aplastic anemia, Hemophagocytosis OMIM:300635
Feingold Syndrome 1
Interrupted aortic arch, Accessory spleen, Annular pancreas, Polysplenia, Duodenal atresia, Small... OMIM:164280
Nephrotic Syndrome, Type 12
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:616892
Brugada Syndrome
Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F... ORPHA:130
Focal Segmental Glomerulosclerosis 6
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Proteinuria,... OMIM:614131
Neurodegeneration With Brain Iron Accumulation 4
Optic atrophy, Spasticity, Distal amyotrophy, Cerebellar atrophy, Generalized dystonia, Neurodege... OMIM:614298
Alagille Syndrome 1
Ventricular septal defect, Atrial septal defect, Duplicated collecting system, Renal dysplasia, F... OMIM:118450
Glut1 Deficiency Syndrome 1