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Gene: Vegfa MGI:103178

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.

Human diseases associated with Vegfa (0 diseases)
Human diseases predicted to be associated with Vegfa (2971 diseases)

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	Matching phenotypes	Source
Charcot-Marie-Tooth Disease Type 2B1	Hand muscle atrophy, Decreased motor nerve conduction velocity, Peroneal muscle atrophy, Hand mus...	ORPHA:98856
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Peripheral axonal degeneration, Decreased motor nerve conduction velocity, Hand muscle weakness, ...	OMIM:302800
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Recurrent respiratory infections, Skeletal muscle atrophy, Progressive distal muscular atrophy, F...	OMIM:159950
Cardiomyopathy, Dilated, 1R	Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact...	OMIM:613424
Congenital Heart Defects, Multiple Types, 7	Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s...	OMIM:618780
Ethanolaminosis	Cardiomegaly	OMIM:227150
Spinal Muscular Atrophy, Type Iii	Pelvic girdle amyotrophy, Spinal muscular atrophy, Proximal muscle weakness, Hand tremor, Degener...	OMIM:253400
Left Ventricular Noncompaction 7	Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy	OMIM:615092
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal coronary artery morphology, Cardiac shunt, Maternal diabetes, Cardiomegaly, Tachypnea, A...	ORPHA:860
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1	Back pain, Generalized amyotrophy, Loss of ambulation, Scapular winging, Lumbar hyperlordosis, Fa...	OMIM:167320
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome	Distal lower limb amyotrophy, Failure to thrive in infancy, Decreased number of large peripheral ...	ORPHA:90103
Charcot-Marie-Tooth Disease, Axonal, Type 2P	Peripheral axonal degeneration, Decreased motor nerve conduction velocity, Distal muscle weakness...	OMIM:614436
Ciliary Dyskinesia, Primary, 40	Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Azoospermia, Interrupted inf...	OMIM:618300
Familial Infantile Bilateral Striatal Necrosis	Gait ataxia, Choreoathetosis, Upper limb muscle weakness, Hypertonia, Atrophy/Degeneration involv...	ORPHA:225154
Amyotrophic Lateral Sclerosis 2, Juvenile	Hand muscle atrophy, Skeletal muscle atrophy, Clonus, Opisthotonus, Spastic dysarthria, Hypertoni...	OMIM:205100
Charcot-Marie-Tooth Disease, Type 4C	Peripheral axonal degeneration, Decreased motor nerve conduction velocity, Prolonged brainstem au...	OMIM:601596
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Fatty replacement of skeletal muscle, Cranial nerve compression, Generalized amyotrophy, Waddling...	ORPHA:52430
Pseudoxanthoma Elasticum	Abnormal cerebral vascular morphology, Nephrocalcinosis, High palate, Hypothyroidism, Sudden card...	ORPHA:758
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Decreased number of peripheral myelinated nerve fibers, Proximal muscle weakness, Axonal degenera...	OMIM:604484
Amyotrophic Lateral Sclerosis 8	Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Distal muscle weakness, Postural tremor, ...	OMIM:608627
Amegakaryocytic Thrombocytopenia, Congenital, 1	Megakaryocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia	OMIM:604498
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma	Retinal coloboma, Macular coloboma, Interrupted aortic arch, Coarctation of aorta	OMIM:107550
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation	Right aortic arch with mirror image branching	OMIM:107500
Atrioventricular Septal Defect, Susceptibility To, 2	Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran...	OMIM:606217
Genitopalatocardiac Syndrome	Right aortic arch, Double outlet right ventricle, Ventricular septal defect, Transposition of the...	OMIM:231060
Heterotaxy, Visceral, 12, Autosomal	Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery atresia, Patent...	OMIM:619702
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, P...	OMIM:613954
Charcot-Marie-Tooth Disease, Type 4A	Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Decreased...	OMIM:214400
Juvenile Amyotrophic Lateral Sclerosis	Skeletal muscle atrophy, Neck flexor weakness, Clonus, Chorea, Upper-limb joint contracture, Opis...	ORPHA:300605
Congenital Tracheomalacia	Apnea, Cardiomegaly, Tracheobronchomalacia, Cough, Atrial septal defect, Emphysema, Single ventri...	ORPHA:95430
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Cerebellar atrophy, Progressive external ophthalmoplegia, Peripheral axonal degeneration, Dystoni...	OMIM:208920
Spinal Muscular Atrophy, Type Iv	Waddling gait, Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centr...	OMIM:271150
Myopathy And Diabetes Mellitus	Impaired vibratory sensation, Distal lower limb amyotrophy, Peripheral axonal neuropathy, Inabili...	ORPHA:2596
Emanuel Syndrome	Congenital hip dislocation, Dental crowding, Congenital diaphragmatic hernia, Micrognathia, High ...	OMIM:609029
Charcot-Marie-Tooth Disease, Axonal, Type 2S	Proximal muscle weakness, Axonal degeneration, Distal sensory impairment, Upper limb muscle weakn...	OMIM:616155
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Overriding aorta, Ventricular septal defect, Extramedullary hematopoiesis, ...	OMIM:617021
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Waddling gait, Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibe...	OMIM:618138
Acute Erythroid Leukemia	Bone marrow hypercellularity, Pancytopenia, Erythroid hypoplasia, Leukopenia, Bone marrow hypocel...	ORPHA:318
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Skeletal muscle atrophy, Axial muscle atrophy, Frequent falls, Atelectasis, Limb-girdle muscle we...	ORPHA:254361
Spinal Muscular Atrophy, Type Ii	Recurrent respiratory infections, Skeletal muscle atrophy, Spinal muscular atrophy, Hand tremor, ...	OMIM:253550
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1	Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, P...	OMIM:105550
Aorta Coarctation	Pseudocoarctation of the aorta, Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Hy...	ORPHA:1457
Galloway-Mowat Syndrome 3	Diffuse mesangial sclerosis, Cerebellar atrophy, Failure to thrive, Proteinuria, Micrognathia, Hi...	OMIM:617729
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact...	OMIM:612158
Mitochondrial Dna Depletion Syndrome 18	Hand muscle atrophy, Distal muscle weakness, Clonus, Proximal muscle weakness, Axonal degeneratio...	OMIM:618811
Arts Syndrome	Death in infancy, Ataxia, Progressive muscle weakness, Recurrent upper respiratory tract infectio...	OMIM:301835
Emanuel Syndrome	Redundant neck skin, Multiple joint contractures, Congenital hip dislocation, Congenital diaphrag...	ORPHA:96170
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Skeletal muscle atrophy, Peripheral axonal neuropathy, Distal muscle weakness, Axonal degeneratio...	OMIM:620011
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Bicuspid aortic valve, Parachute mitral valve, Micrognathia, Asplenia, Abnormal lung lobation, At...	OMIM:265380
Pseudoxanthoma Elasticum	Accelerated atherosclerosis, Choroidal neovascularization, Macular degeneration, Decreased DLCO, ...	OMIM:264800
Aapoaiv Amyloidosis	Abnormal lung morphology, Left bundle branch block, Sinus bradycardia, Chronic pulmonary obstruct...	ORPHA:439232
Amyotrophic Lateral Sclerosis 27, Juvenile	Lower limb spasticity, Scapular winging, Quadriceps muscle atrophy, Angulated muscle fibers, Hype...	OMIM:620285
Microphthalmia, Syndromic 9	Congenital diaphragmatic hernia, Micrognathia, Agenesis of pulmonary vessels, Atrial septal defec...	OMIM:601186
Congenitally Corrected Transposition Of The Great Arteries	Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear...	ORPHA:216694
22Q11.2 Duplication Syndrome	Ventricular septal defect, Micrognathia, Urethral stenosis, Cleft palate, Aplasia/Hypoplasia of t...	ORPHA:1727
Inherited Creutzfeldt-Jakob Disease	Tremor, Chorea, Abnormal pyramidal sign, Gait ataxia, Spastic dysarthria, Progressive extrapyrami...	ORPHA:282166
Velocardiofacial Syndrome	Retinal vascular tortuosity, Ventricular septal defect, Cryptorchidism, Interrupted aortic arch, ...	OMIM:192430
Amyotrophic Lateral Sclerosis 4, Juvenile	Abnormal lower motor neuron morphology, Peripheral axonal degeneration, Amyotrophic lateral scler...	OMIM:602433
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Ventricular septal defect, Short neck, Abnormal aortic morphology, Webbed neck, Truncus arteriosus	ORPHA:2516
Monomelic Amyotrophy	Tremor, Degeneration of anterior horn cells, Distal upper limb amyotrophy, Muscle weakness, Fasci...	ORPHA:65684
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Left ventricular noncompaction, Dilated cardiomyopathy, Endocardial fibrosis, Left ventricular hy...	OMIM:601493
Mucopolysaccharidosis-Plus Syndrome	Respiratory distress, Short neck, Flexion contracture, Leukopenia, Chorioretinal hypopigmentation...	OMIM:617303
Congenital Heart Defects, Multiple Types, 6	Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a...	OMIM:613854
Nephrotic Syndrome, Type 11	Diffuse mesangial sclerosis, Proteinuria, Ventricular septal defect, Minimal change glomeruloneph...	OMIM:616730
Late-Onset Distal Myopathy, Markesbery-Griggs Type	Proximal muscle weakness in upper limbs, Fatigable weakness of distal limb muscles, Ankle weaknes...	ORPHA:98912
Cayler Cardiofacial Syndrome	Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect	OMIM:125520
Oculopharyngodistal Myopathy	Loss of ambulation, Recurrent aspiration pneumonia, Foot dorsiflexor weakness, Distal lower limb ...	ORPHA:98897
Congenital Cataracts, Facial Dysmorphism, And Neuropathy	Peripheral axonal degeneration, Decreased motor nerve conduction velocity, Decreased testicular s...	OMIM:604168
Galloway-Mowat Syndrome 7	Diffuse mesangial sclerosis, Proteinuria, Ventricular septal defect, Minimal change glomeruloneph...	OMIM:618348
Neuropathy, Hereditary Motor And Sensory, Russe Type	Distal lower limb amyotrophy, Decreased motor nerve conduction velocity, Distal muscle weakness, ...	OMIM:605285
Structural Heart Defects And Renal Anomalies Syndrome	Death in infancy, Renal insufficiency, Cyanosis, Ventricular septal defect, Partial anomalous pul...	OMIM:617478
Conotruncal Heart Malformations	Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran...	OMIM:217095
Double Outlet Right Ventricle	Hypoparathyroidism, Tachycardia, Cyanosis, Ventricular septal defect, Intestinal malrotation, Fai...	ORPHA:3426
Cockayne Syndrome Type 3	Skeletal muscle atrophy, Flexion contracture, Premature graying of hair, Retinal degeneration, He...	ORPHA:90324
Marinesco-Sjogren Syndrome	Cerebellar atrophy, Skeletal muscle atrophy, Ataxia, Short stature, Hypergonadotropic hypogonadis...	OMIM:248800
14Q24.1Q24.3 Microdeletion Syndrome	Atrial septal defect, Limited elbow extension and supination, Thin upper lip vermilion, Ventricul...	ORPHA:401935
Alpha-B Crystallin-Related Late-Onset Myopathy	Muscle fiber inclusion bodies, Autophagic vacuoles, Progressive distal muscle weakness, Respirato...	ORPHA:399058
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments	Diffuse cerebral atrophy, Parkinsonism, Motor neuron atrophy, Frontotemporal cerebral atrophy, Br...	ORPHA:412066
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, Vascular ring, Hydrocele t...	OMIM:601927
Cardiomyopathy, Dilated, 1Gg	Dilated cardiomyopathy, Left ventricular noncompaction	OMIM:613642
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Progressive external ophthalmoplegia, Premature ovarian insufficiency, Parkinsonism, Proximal mus...	OMIM:609286
Desminopathy	Thoracic kyphoscoliosis, Neck flexor weakness, Sudden cardiac death, Spinal rigidity, Respiratory...	ORPHA:98909
Verheij Syndrome	Branchial cyst, Vertebral fusion, Thin upper lip vermilion, Ventricular septal defect, Renal agen...	OMIM:615583
Myopathy, Scapulohumeroperoneal	Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Neck flexor weakness, Facial pals...	OMIM:616852
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Impaired temperature sensation, Hand muscle weakness, Quadriceps muscle weakness, Flexion contrac...	ORPHA:99947
Schimke Immuno-Osseous Dysplasia	Short neck, Neutropenia, Microdontia, Nephropathy, Nephrotic range proteinuria, Minimal change gl...	ORPHA:1830
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Skeletal muscle atrophy, Neck flexor weakness, Impaired distal proprioception, Progressive muscle...	OMIM:157640
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis, Paralysis, Athetosis, Axonal loss, Gliosis, Dystonia	OMIM:300857
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Thin upper lip vermilion, Overriding aorta, Cyanosis, Micrognathia, Cryptorchidism, Patent ductus...	ORPHA:3304
Congenital Myopathy 10B, Mild Variant	Neck flexor weakness, Elbow contracture, Fatty replacement of skeletal muscle, Progressive muscle...	OMIM:620249
22Q11.2 Deletion Syndrome	Short neck, Micrognathia, Abnormal lung lobation, Abnormal aortic arch morphology, Hypoplasia of ...	ORPHA:567
Cockayne Syndrome	Skeletal muscle atrophy, Urinary incontinence, Congenital contracture, Retinal arteriolar constri...	ORPHA:191
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Peripheral axonal degeneration, Distal muscle weakness, Small for gestational age, Spinal muscula...	OMIM:604320
Amyotrophic Lateral Sclerosis 11	Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Somatic sensory dysfunction, Decreased ne...	OMIM:612577
Heterotaxy, Visceral, 4, Autosomal	Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit...	OMIM:613751
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Renal insufficiency, Elevated circulating creatine kinase concentration, Supraventricular arrhyth...	OMIM:611773
Waldenström Macroglobulinemia	Normocytic anemia, Abnormality of neutrophils, Hepatomegaly, Vasculitis, Respiratory insufficienc...	ORPHA:33226
Pontocerebellar Hypoplasia, Type 1A	Ataxia, Spinal muscular atrophy, Limb ataxia, Hand tremor, Degeneration of anterior horn cells, C...	OMIM:607596
Autoimmune Hypoparathyroidism	Prolonged QT interval, Calcium nephrolithiasis, Ventricular arrhythmia, Autoimmune hypoparathyroi...	ORPHA:36913
Ciliary Dyskinesia, Primary, 37	Right aortic arch, Dextrocardia, Female infertility, Situs inversus totalis	OMIM:617577
Congenital Heart Defects, Multiple Types, 9	Aortopulmonary collateral arteries, Mitral atresia, Arteria lusoria, Double outlet right ventricl...	OMIM:620294
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo...	OMIM:604169
Timothy Syndrome	Prolonged QT interval, Thin upper lip vermilion, Ventricular septal defect, Pneumonia, Bronchitis...	OMIM:601005
Vocal Cord And Pharyngeal Distal Myopathy	Amyotrophic lateral sclerosis, Bulbar palsy, Distal muscle weakness, Abnormal morphology of muscu...	ORPHA:600
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Heterotaxy, Visceral, 7, Autosomal	Atrial septal defect, Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypopl...	OMIM:616749
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Megakaryocyte dysplasia, Anemia, Increased mean corpuscular...	OMIM:619041
Pontocerebellar Hypoplasia Type 1	Skeletal muscle atrophy, Peripheral axonal neuropathy, Ataxia, Optic atrophy, Degeneration of ant...	ORPHA:2254
Gitelman Syndrome	Respiratory distress, Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Tubul...	ORPHA:358
Cocaine Intoxication	Respiratory distress, Prolonged QRS complex, Elevated circulating creatine kinase concentration, ...	ORPHA:90068
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Respiratory distress, Skeletal muscle atrophy, Apnea, Flexion contracture, Ragged-red muscle fibe...	ORPHA:17
You-Hoover-Fong Syndrome	Coarctation of aorta, Double aortic arch, Vascular ring	OMIM:616954
Kallmann Syndrome-Heart Disease Syndrome	Aortic regurgitation, Cyanosis, Hypogonadotropic hypogonadism, Renal agenesis, Short lingual fren...	ORPHA:2326
Left Ventricular Noncompaction 10	Dilated cardiomyopathy, Left ventricular noncompaction	OMIM:615396
Bone Marrow Failure Syndrome 1	Pancytopenia, Aplastic anemia, Bone marrow hypocellularity	OMIM:614675
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Hydranencephaly, Truncus arteriosus, Ventricular septal defect, Webbed neck	OMIM:601355
Cardiomyopathy, Familial Restrictive, 3	Myocardial sarcomeric disarray, Abnormal ST segment, Right atrial enlargement, Reduced left ventr...	OMIM:612422
Immunodeficiency 16	Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia	OMIM:615593
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Methylmalonic acidemia, Hypomethioninemia, Micrognathia, Cryptorchidism, Patent ductus arteriosus...	OMIM:614857
Fixed Subaortic Stenosis	Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri...	ORPHA:3092
Amyotrophic Lateral Sclerosis 5, Juvenile	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Distal muscle weakness, Re...	OMIM:602099
Cleft-Limb-Heart Malformation Syndrome	Truncus arteriosus	OMIM:215850
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun...	ORPHA:75565
Laing Early-Onset Distal Myopathy	Toe extensor amyotrophy, Distal muscle weakness, Progressive muscle weakness, Dilated cardiomyopa...	ORPHA:59135
Amyotrophic Lateral Sclerosis 16, Juvenile	Lower limb spasticity, Amyotrophic lateral sclerosis, Loss of ambulation, Lower limb muscle weakn...	OMIM:614373
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Decreased muscle mass, Redundant neck skin, Congenital hip dislocation, Prominent veins on trunk,...	ORPHA:357074
Charcot-Marie-Tooth Disease, Dominant Intermediate B	Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Distal mu...	OMIM:606482
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom...	ORPHA:75564
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Bicuspid aortic valve, Dental crowding, Coloboma, Atrial septal defect, Vesicoureteral reflux, Hy...	ORPHA:353281
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Bulbar palsy, Parkinsonism...	OMIM:105500
Spinal Muscular Atrophy, X-Linked 2	Multiple joint contractures, Facial palsy, Spinal muscular atrophy, Respiratory insufficiency due...	OMIM:301830
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Absent gallbladder, Thin upper lip vermilion, Hypospadias, Ventricular septal defect, Cryptorchid...	ORPHA:163979
Charcot-Marie-Tooth Disease, Axonal, Type 2R	Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity...	OMIM:615490
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Normocytic anemia, Retinal neovascularization, Nephropathy, Retinal cotton wool spot, Raynaud phe...	ORPHA:247691
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Atrial septal defect, Failure to thrive, Ventricular septal defect, Patent ductus arteriosus, Art...	ORPHA:99050
Absence Of The Pulmonary Artery	Abnormal pulmonary thoracic imaging finding, Abnormal coronary artery morphology, Cardiomegaly, N...	ORPHA:980
3-Methylglutaconic Aciduria, Type V	Prolonged QT interval, Noncompaction cardiomyopathy, Hypospadias, Sudden cardiac death, Congestiv...	OMIM:610198
Pseudoxanthoma Elasticum, Forme Fruste	Gastrointestinal hemorrhage, Medial calcification of large arteries, Angina pectoris, Premature o...	OMIM:177850
Amyotrophic Lateral Sclerosis 1	Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Degeneration of the lateral corticospinal...	OMIM:105400
Sporadic Creutzfeldt-Jakob Disease	Ataxia, Babinski sign, Abnormal pyramidal sign, Cerebral atrophy, Astrocytosis, Gliosis, Myoclonu...	ORPHA:204
Machado-Joseph Disease Type 3	Skeletal muscle atrophy, Substantia nigra gliosis, Vocal cord paralysis, Abnormal pyramidal sign,...	ORPHA:276244
Andersen-Tawil Syndrome	Abnormality of dental color, Dental crowding, Micrognathia, Hypoplasia of the maxilla, Oligodonti...	ORPHA:37553
Scimitar Syndrome	Respiratory distress, Heart block, Abnormal lung morphology, Pulmonary artery hypoplasia, Hypopla...	ORPHA:185
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Decreased muscle mass, Decreased muscle glycogen content, Ventricular tachycardia, Upper limb mus...	ORPHA:263297
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Cerebral h...	OMIM:300845
Truncus Arteriosus	Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort...	ORPHA:3384
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4	Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, B...	OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3	Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, B...	OMIM:616437
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Ataxia, Truncal titubation, Kyphosis, Abnormal spinal cord morphology, Axonal degeneration, Impai...	ORPHA:88628
Williams Syndrome	Nephrocalcinosis, Microdontia, Hypogonadotropic hypogonadism, Abnormal dental enamel morphology, ...	ORPHA:904
Pseudo-Torch Syndrome 2	Hepatomegaly, Acute respiratory distress syndrome, Petechiae, Cerebral hemorrhage, Secundum atria...	OMIM:617397
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Rigidity, Babinski sign, Astrocytosis, Inappropriate behavior, Gait disturbance, Myoclonus, Dysto...	OMIM:600795
Congenital Heart Block	Cyanosis, First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive he...	ORPHA:60041
Heterotaxy, Visceral, 6, Autosomal	Dextrocardia, Situs inversus totalis, Common atrium, Right aortic arch, Hypoplastic left heart, T...	OMIM:614779
Finnish Upper Limb-Onset Distal Myopathy	Progressive distal muscle weakness, Fatty replacement of skeletal muscle, Progressive proximal mu...	ORPHA:399086
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome	Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta	ORPHA:228190
Arteriovenous Malformations Of The Brain	Cerebral arteriovenous malformation	OMIM:108010
Cardiomyopathy, Dilated, 1I	Dilated cardiomyopathy, Cardiomegaly	OMIM:604765
Adams-Oliver Syndrome 6	Tricuspid regurgitation, Ventricular septal defect, Cutis marmorata, Portal hypertension, Splenom...	OMIM:616589
Schimke Immunoosseous Dysplasia	Short neck, Bilateral cryptorchidism, Elevated circulating thyroid-stimulating hormone concentrat...	OMIM:242900
Tako-Tsubo Cardiomyopathy	Abnormal coronary artery morphology, Prolonged QTc interval, Mildly elevated creatine kinase, Mil...	ORPHA:66529
Chloramphenicol Toxicity	Aplastic anemia	OMIM:515000
Generalized Arterial Calcification Of Infancy	Respiratory distress, Medial calcification of large arteries, Choroidal neovascularization, Adren...	ORPHA:51608
Glycogen Storage Disease Of Heart, Lethal Congenital	Respiratory distress, Prolonged QRS complex, Apnea, Cardiomegaly, Pericardial effusion, Shortened...	OMIM:261740
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis, Proximal amyotrophy, Gait disturbance, Fasciculations, Neuronal lo...	OMIM:608030
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,...	OMIM:618223
Coenzyme Q10 Deficiency, Primary, 7	Ventricular septal defect, Patent ductus arteriosus, Respiratory insufficiency, Hypoplastic left ...	OMIM:616276
Digeorge Syndrome	Micrognathia, High, narrow palate, Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia...	OMIM:188400
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Stiff neck, Elevated circulating creatine kinase concentration, Abnormal lef...	ORPHA:99827
Skraban-Deardorff Syndrome	Right aortic arch, Ventricular septal defect	OMIM:617616
Distal Anoctaminopathy	Waddling gait, Proximal muscle weakness in upper limbs, Calf muscle pseudohypertrophy, Peroneal m...	ORPHA:399096
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Intestinal perforation, Abnormal lung morphology, Intracranial hemorrhage, Cough, Generalized abn...	ORPHA:464321
Stankiewicz-Isidor Syndrome	Ureteral duplication, Hypospadias, Truncus arteriosus, Ventricular septal defect, Micrognathia, C...	OMIM:617516
Adrenomyeloneuropathy	Peripheral axonal degeneration, Back pain, Axonal degeneration, Dorsal column degeneration, Abnor...	ORPHA:139399
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness	Peripheral axonal degeneration, Skeletal muscle atrophy, Impaired distal proprioception, Hand mus...	ORPHA:101097
Left Ventricular Noncompaction 8	Dilated cardiomyopathy, Left ventricular noncompaction	OMIM:615373
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Skeletal muscle atrophy, Bulbar palsy, Progressive external ophthalmoplegia, Failure to thrive in...	ORPHA:254875
Fabry Disease	Conjunctival telangiectasia, Bundle branch block, Atrioventricular block, Nephropathy, Emphysema,...	ORPHA:324
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Peripheral axonal degeneration, Skeletal muscle atrophy, Tremor, Dysmetria, Gait ataxia, Ataxia, ...	OMIM:615157
Gaucher Disease, Type Ii	Death in infancy, Hepatomegaly, Double aortic arch, Apnea, Thrombocytopenia, Splenomegaly, Trismu...	OMIM:230900
Chromosome 22Q11.2 Deletion Syndrome, Distal	Truncus arteriosus	OMIM:611867
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory distress, Elevated circulating creatine kinase concentration, Cardiomegaly, Abnormal ...	ORPHA:365
1Q21.1 Microdeletion Syndrome	Cryptorchidism, Patent ductus arteriosus, Depression, Abnormal cardiac septum morphology, High pa...	ORPHA:250989
Alport Syndrome	Mesangial hypercellularity, Macular degeneration, Cough, Nephritis, Tubulointerstitial fibrosis, ...	ORPHA:63
Distal Duplication 14Q	Patent ductus arteriosus, Abnormal aortic morphology	ORPHA:1705
Eisenmenger Syndrome	Respiratory distress, Elevated circulating C-reactive protein concentration, Ventricular tachycar...	ORPHA:97214
Autosomal Dominant Coarctation Of Aorta	Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m...	ORPHA:1455
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive	Peripheral axonal degeneration, Proximal muscle weakness in upper limbs, Decreased number of peri...	OMIM:607706
Infantile Refsum Disease	Ataxia, Facial palsy, Short stature, Progressive muscle weakness, Optic atrophy, Cardiomyopathy, ...	ORPHA:772
Heterotaxy, Visceral, 8, Autosomal	Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Aortopulmonary collater...	OMIM:617205
Partial Atrioventricular Septal Defect	Bicuspid aortic valve, Abnormal tricuspid valve morphology, Bacterial endocarditis, Atrial arrhyt...	ORPHA:1330
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)	Skeletal muscle atrophy, Peripheral axonal neuropathy, Distal muscle weakness, Paralysis, Distal ...	OMIM:613710
Acquired Aneurysmal Subarachnoid Hemorrhage	Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypothyroidism, Leukocytosi...	ORPHA:90065
Feingold Syndrome Type 1	Renal dysplasia, Renal insufficiency, Jejunal atresia, Tricuspid stenosis, Abnormality of the kid...	ORPHA:391641
Distal Myopathy With Anterior Tibial Onset	Absent muscle fiber dysferlin, Somatic sensory dysfunction, Tibialis muscle weakness, Limb-girdle...	ORPHA:178400
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Myelofibrosis, Pancytopenia, Bone marrow hypercellularity, Megakaryocyte ...	ORPHA:86843
Infantile-Onset X-Linked Spinal Muscular Atrophy	Skeletal muscle atrophy, Hip contracture, Distal muscle weakness, Abnormal anterior horn cell mor...	ORPHA:1145
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Secundum atrial septal defect, Oral ulcer, Leukopenia, Hypoplasia of the thymus, High palate, Neu...	OMIM:612541
Craniofacioskeletal Syndrome	Absent gallbladder, Thin upper lip vermilion, Hypospadias, Ventricular septal defect, Micrognathi...	OMIM:300712
Cln3 Disease	Cerebellar atrophy, Bull's eye maculopathy, Vacuolated lymphocytes, Optic atrophy, Increased circ...	ORPHA:228346
Ogden Syndrome	Large posterior fontanelle, Redundant neck skin, Bicuspid aortic valve, Congenital hip dislocatio...	OMIM:300855
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Ventricular hypertrophy, Hepatomegaly, Increased urine succinate level, Apnea, Congestive heart f...	OMIM:619048
Acrocardiofacial Syndrome	Joint dislocation, Death in infancy, Hypoplasia of penis, Hyperthyroidism, Hypospadias, Truncus a...	ORPHA:2008
Congenital Heart Defects, Multiple Types, 4	Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A...	OMIM:615779
Autosomal Recessive Centronuclear Myopathy	Waddling gait, Hip contracture, Scapular winging, Facial palsy, Centrally nucleated skeletal musc...	ORPHA:169186
Amyotrophic Lateral Sclerosis 21	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Bulbar palsy, Distal muscl...	OMIM:606070
8Q24.3 Microdeletion Syndrome	Branchial cyst, Respiratory distress, Ectopic posterior pituitary, Congenital hip dislocation, Sh...	ORPHA:508488
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies	Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta	OMIM:604381
Distal Nebulin Myopathy	Neck flexor weakness, Progressive distal muscle weakness, Ankle flexion contracture, Fatty replac...	ORPHA:399103
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia	Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Respiratory insufficiency due to muscle w...	OMIM:612069
Apert Syndrome	Mandibular prognathia, Limited elbow movement, Chiari type I malformation, Bifid uvula, Synostosi...	OMIM:101200
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Death in infancy, Hypospadias, Cryptorchidism, Dilated cardiomyopathy, Flexion contracture, Simpl...	OMIM:618815
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Skeletal muscle atrophy, Ventricular septal defect, Knee flexion contracture, Vascular ring, Mitr...	OMIM:603387
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Mandibular prognathia, Bicuspid aortic valve, Short neck, Micrognathia, Coloboma, Abnormal optic ...	ORPHA:508498
Short Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Elevated circulating acylcarnitine concentration, Optic atrophy, Cardiomyop...	ORPHA:26792
Amyotrophy, Hereditary Neuralgic	Peripheral axonal degeneration, Skeletal muscle atrophy, Short stature, Axonal degeneration, Brac...	OMIM:162100
Chilton-Okur-Chung Neurodevelopmental Syndrome	Mandibular prognathia, Septo-optic dysplasia, Cerebellar vermis hypoplasia, Anterior pituitary hy...	OMIM:619841
Rubinstein-Taybi Syndrome 1	Respiratory distress, Dental crowding, Premature thelarche, Micrognathia, Bilateral cryptorchidis...	OMIM:180849
Idiopathic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Hypertriglyceridemia, Foamy urine, Proteinuria, Pulmonary embolism, ...	ORPHA:567548
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Smooth philtrum, Thin upper lip vermilion, Overriding aorta, Bicuspid aortic valve, Ventricular s...	ORPHA:477817
Congenital Arthrogryposis With Anterior Horn Cell Disease	Skeletal muscle atrophy, Peripheral axonal neuropathy, Dystonia, Abnormal anterior horn cell morp...	OMIM:611890
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Bicuspid aortic valve, Dental crowding, Micrognathia, Chiari type I malformation, Coloboma, High ...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Bicuspid aortic valve, Dental crowding, Micrognathia, Chiari type I malformation, Coloboma, High ...	ORPHA:353277
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Respiratory distress, Hepatomegaly, Renal insufficiency, Thrombocytopenia, Splenomegaly, Optic at...	ORPHA:79312
Charcot-Marie-Tooth Disease Type 4A	Impaired distal proprioception, Hand muscle weakness, Quadriceps muscle weakness, Motor conductio...	ORPHA:99948
Meacham Syndrome	Bicuspid aortic valve, Death in childhood, Atrial septal defect, Scimitar anomaly, Diaphragmatic ...	OMIM:608978
Coronary Arterial Fistula	Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Tachypnea, Abnormal left ventricula...	ORPHA:2041
Duchenne Muscular Dystrophy	Waddling gait, Skeletal muscle atrophy, Proximal muscle weakness, Progressive muscle weakness, Fl...	ORPHA:98896
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Proteinuria, Raynaud phenomenon, Punctate vasculitis skin lesions, R...	OMIM:192315
Triosephosphate Isomerase Deficiency	Skeletal muscle atrophy, Optic disc pallor, Death in infancy, Respiratory insufficiency due to mu...	OMIM:615512
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Diffuse mesangial sclerosis, Adrenal cortical sclerosis, Autoimmune hemolytic anemia, Severe B ly...	OMIM:102700
Amyotrophic Lateral Sclerosis 19	Loss of ambulation, Amyotrophic lateral sclerosis, Respiratory insufficiency due to muscle weakness	OMIM:615515
Amyotrophic Lateral Sclerosis 9	Amyotrophic lateral sclerosis, Distal muscle weakness, Distal amyotrophy, Spasticity	OMIM:611895
Lethal Congenital Contracture Syndrome 10	Torticollis, Stiff neck, Overriding aorta, Ventricular septal defect, Short neck, Cardiomegaly, M...	OMIM:617022
Heart And Brain Malformation Syndrome	Prominent metopic ridge, Cerebellar vermis hypoplasia, Ventricular septal defect, Camptodactyly o...	OMIM:616920
Myofibrillar Myopathy 10	Mandibular prognathia, Broad neck, Elevated circulating creatine kinase concentration, Ankle flex...	OMIM:619040
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Ureteral duplication, Apnea, Elevated circulating creatine kinase concentration, Cardiomegaly, In...	OMIM:608836
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities	Diffuse mesangial sclerosis, Renal insufficiency, Optic atrophy, Nephrotic syndrome, Retinal arte...	OMIM:249660
Amyotrophic Lateral Sclerosis 18	Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Fasciculations, Spasticity, Muscle weakness	OMIM:614808
Granulomatosis With Polyangiitis	Sinusitis, Elevated circulating C-reactive protein concentration, Granulomatosis, Abnormal oral c...	ORPHA:900
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2	Pancytopenia, Aplastic anemia, Bone marrow hypocellularity, Leukemia, Myeloid leukemia	OMIM:614743
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Premature ovarian insufficiency, Short stature, Female infertility, Centrally nucleated skeletal ...	OMIM:619518
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis, Tongue fasciculations, Fasciculations, Loss of ambulation, Muscle ...	OMIM:613435
Amyotrophic Lateral Sclerosis, Susceptibility To, 24	Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Caudate atrophy, Hippocampal atrophy, Tet...	OMIM:617892
Monosomy 18Q	Mandibular prognathia, Secundum atrial septal defect, Bilateral cryptorchidism, Downturned corner...	ORPHA:1600
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Micrognathia, Downturned corners of mouth, Atrial septal defect, Hypothyroidism, ...	OMIM:620186
Melas	Wolff-Parkinson-White syndrome, Intestinal pseudo-obstruction, Ragged-red muscle fibers, Nephropa...	ORPHA:550
Biliary, Renal, Neurologic, And Skeletal Syndrome	Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Secundum atrial septal defect, Aque...	OMIM:619534
Amyotrophic Lateral Sclerosis	Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Paralysis, Motor neuron atrophy, Fatigabl...	ORPHA:803
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F	Decreased number of peripheral myelinated nerve fibers, Skeletal muscle atrophy, Broad-based gait...	OMIM:614895
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Respiratory distress, Ureteral duplication, Neonatal insulin-dependent diabetes mellitus, Congeni...	ORPHA:2255
Cardiac-Urogenital Syndrome	Congenital diaphragmatic hernia, Patent urachus, Atrial septal defect, Scimitar anomaly, Micropen...	OMIM:618280
Distal Myotilinopathy	Multiple joint contractures, Progressive distal muscle weakness, Progressive proximal muscle weak...	ORPHA:98911
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Truncus arteriosus, Situs inversus totalis, Asplenia, Abnormal lung lobation, Still...	OMIM:615415
Aicardi-Goutieres Syndrome 9	Hypoalbuminemia, Micropenis, Hypothyroidism, Hemolytic anemia, Hepatomegaly, Portal hypertension,...	OMIM:619487
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5	Amyotrophic lateral sclerosis, Limb muscle weakness, Muscle weakness, Fasciculations	OMIM:619141
Coenzyme Q10 Deficiency, Primary, 1	Cerebellar atrophy, Pancytopenia, Proteinuria, Recurrent myoglobinuria, Elevated circulating crea...	OMIM:607426
Reni Syndrome	Diffuse mesangial sclerosis, Hypertriglyceridemia, Proteinuria, Mesangial hypercellularity, Podoc...	OMIM:617575
Asbestos Intoxication	Reduced forced vital capacity, Nonproductive cough, Diffuse reticular or finely nodular infiltrat...	ORPHA:2302
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Elevated circulating creatine kinase concentration, Episodic tachypnea, Tac...	ORPHA:26793
Transcobalamin Deficiency	Pancytopenia, Megaloblastic bone marrow, Neutropenia, Lymphopenia, Thrombocytopenia	ORPHA:859
Tricuspid Atresia	Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Hypoplasia of right ventri...	ORPHA:1209
Charge Syndrome	Decreased response to growth hormone stimulation test, Micrognathia, Secundum atrial septal defec...	OMIM:214800
Coenzyme Q10 Deficiency, Primary, 8	Respiratory distress, Small for gestational age, Flexion contracture, Elevated circulating creati...	OMIM:616733
Bethlem Myopathy	Multiple joint contractures, Reduced muscle collagen VI, Limb-girdle muscle weakness, Quadriceps ...	ORPHA:610
Pulmonary Atresia-Intact Ventricular Septum Syndrome	Pulmonary artery atresia, Patent ductus arteriosus, Abnormal tricuspid valve morphology	ORPHA:1208
Fabry Disease	Renal insufficiency, Angina pectoris, Transient ischemic attack, Myocardial infarction, Proteinur...	OMIM:301500
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Right aortic arch, Coarctation of aorta	OMIM:140850
Neurodegeneration With Brain Iron Accumulation 6	Dystonia, Rigidity, Spastic tetraplegia, Bradykinesia, Distal amyotrophy, Tip-toe gait, Neurodege...	OMIM:615643
45,X/46,Xy Mixed Gonadal Dysgenesis	Bicuspid aortic valve, Micrognathia, Bilateral cryptorchidism, Epispadias, High palate, Micropeni...	ORPHA:1772
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14	Abnormal lower motor neuron morphology, Hand muscle atrophy, Distal muscle weakness, Hand muscle ...	OMIM:607641
Linear Skin Defects With Multiple Congenital Anomalies 1	Atrial septal defect, Overriding aorta, Hypospadias, Ventricular septal defect, Congenital diaphr...	OMIM:309801
Lambert Syndrome	Branchial anomaly, Ventricular septal defect	ORPHA:1296
Distal 22Q11.2 Microdeletion Syndrome	Aortic regurgitation, Recurrent respiratory infections, Branchial fistula, Recurrent urinary trac...	ORPHA:261330
Isolated Atp Synthase Deficiency	Cerebellar atrophy, Hepatomegaly, Respiratory distress, Dilated cardiomyopathy, Optic atrophy, Re...	ORPHA:254913
Focal Segmental Glomerulosclerosis 1	Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Hypertension, Focal segmental glomer...	OMIM:603278
Scorpion Envenomation	Bundle branch block, Increased circulating NT-proBNP concentration, Tachypnea, Prominent U wave, ...	ORPHA:466677
Galloway-Mowat Syndrome 6	Cerebellar atrophy, Proteinuria, Decreased response to growth hormone stimulation test, Downturne...	OMIM:618347
Focal Segmental Glomerulosclerosis 2	Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Hypertension, Focal segmenta...	OMIM:603965
Atrial Septal Defect, Ostium Secundum Type	Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Rig...	ORPHA:99103
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4	Hypoglycosylation of alpha-dystroglycan, Peroneal muscle weakness, Proximal muscle weakness, Hype...	OMIM:611588
Cutis Laxa, Autosomal Recessive, Type Ic	Adrenal hypoplasia, Morgagni diaphragmatic hernia, Micrognathia, Rectal prolapse, Hypoplasia of t...	OMIM:613177
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia	OMIM:618963
Peroxisome Biogenesis Disorder 5A (Zellweger)	Persistent open anterior fontanelle, Micrognathia, Conjugated hyperbilirubinemia, Renal cyst, Hig...	OMIM:614866
Aortic Arch Interruption	Respiratory distress, Bicuspid aortic valve, Tachypnea, Aortic valve atresia, Aortopulmonary wind...	ORPHA:2299
Bronchopulmonary Dysplasia	Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Small fo...	ORPHA:70589
Sporadic Pheochromocytoma/Secreting Paraganglioma	Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Hypertensive retinopathy, Proteinu...	ORPHA:276621
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4	Abnormal lower motor neuron morphology, Waddling gait, Distal muscle weakness, Spinal muscular at...	OMIM:611067
Charge Syndrome	Aqueductal stenosis, Chorioretinal coloboma, Vesicoureteral reflux, Aplasia/Hypoplasia of the cer...	ORPHA:138
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Myositis, Flexion contracture, Muscle fiber atrophy, Facial palsy, Hyperlordosis, Atelectasis, Ca...	ORPHA:258
Gaisböck Syndrome	Plethora, Myocardial infarction, Nephrocalcinosis, Increased circulating renin level, Overweight,...	ORPHA:90041
Mucopolysaccharidosis, Type Vii	Short neck, Flexion contracture, Coarse hair, Anterior beaking of lumbar vertebrae, Anterior beak...	OMIM:253220
Heart Defects, Congenital, And Other Congenital Anomalies	Ureteral duplication, Congenital diaphragmatic hernia, Atrial septal defect, Pancreatic hypoplasi...	OMIM:600001
Atrial Standstill	Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ...	ORPHA:1344
Cardiomyopathy, Familial Hypertrophic, 13	Atrial fibrillation, Angina pectoris, Dyspnea, Concentric hypertrophic cardiomyopathy, Right bund...	OMIM:613243
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Distal muscle weakness, Tremor, Vocal cord paralysis, Distal amyotrophy, Difficulty walking, Voca...	OMIM:158580
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile	Hip contracture, Shoulder flexion contracture, Tremor, Progressive muscle weakness, Proximal amyo...	OMIM:605355
Congenital-Onset Steinert Myotonic Dystrophy	Bundle branch block, Neonatal respiratory distress, Tented upper lip vermilion, Facial hypotonia,...	ORPHA:589821
Cardiac Diverticulum	Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl...	ORPHA:1686
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies	Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Distal muscle weakness	OMIM:205250
Amish Nemaline Myopathy	Hip contracture, Shoulder flexion contracture, Respiratory insufficiency due to muscle weakness, ...	ORPHA:98902
Dilated Cardiomyopathy With Ataxia	Prolonged QT interval, Hypoplasia of penis, Diaphragmatic eventration, Bilateral cryptorchidism, ...	ORPHA:66634
Galloway-Mowat Syndrome 2, X-Linked	Cerebellar atrophy, Proteinuria, Minimal change glomerulonephritis, Micrognathia, Stage 5 chronic...	OMIM:301006
Peroxisome Biogenesis Disorder 2A (Zellweger)	Hepatomegaly, Failure to thrive, Apnea, Micrognathia, Cubitus valgus, Cryptorchidism, Jaundice, O...	OMIM:214110
Ceroid Lipofuscinosis, Neuronal, 7	Cerebellar atrophy, Ataxia, Optic atrophy, Cerebral atrophy, Neurodegeneration	OMIM:610951
17Q24.2 Microdeletion Syndrome	Prolonged QT interval, Thin upper lip vermilion, Failure to thrive in infancy, Decreased response...	ORPHA:529962
Charcot-Marie-Tooth Disease, Dominant Intermediate E	Distal lower limb amyotrophy, Proteinuria, Elevated circulating creatine kinase concentration, Cl...	OMIM:614455
Primary Triglyceride Deposit Cardiomyovasculopathy	Elevated circulating creatine kinase concentration, Vacuolated lymphocytes, Increased muscle lipi...	ORPHA:565612
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Death in infancy, Respiratory failure requiring assisted ventilation, Nemaline bodies, Increased ...	OMIM:620265
Oligomeganephronia	Branchial cyst, Pulmonary venous occlusion, Congenital diaphragmatic hernia, Micrognathia, Secund...	ORPHA:2260
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Ventricular septal defect, Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Micrognathi...	ORPHA:1166
Pulmonary Atresia With Ventricular Septal Defect	Pulmonary artery atresia, Ventricular septal defect	OMIM:178370
Frontotemporal Dementia With Motor Neuron Disease	Abnormal lower motor neuron morphology, Bulbar palsy, Distal muscle weakness, Weakness due to upp...	ORPHA:275872
Cerebrotendinous Xanthomatosis	Abnormal lung morphology, Axonal degeneration, Abnormal pyramidal sign, Gliosis, Thoracic kyphosi...	ORPHA:909
Primary Pulmonary Hypoplasia	Apnea, Micrognathia, Secundum atrial septal defect, Tachypnea, Patellar hypoplasia, Increased cir...	ORPHA:2257
X-Linked Charcot-Marie-Tooth Disease Type 5	Ataxia, Impaired pain sensation, Tremor, Paraparesis, Kyphosis, Optic atrophy, Skeletal muscle hy...	ORPHA:99014
Lipodystrophy, Congenital Generalized, Type 4	Prolonged QT interval, Hepatomegaly, Tachycardia, Hypertriglyceridemia, Atrial fibrillation, Elev...	OMIM:613327
Turner Syndrome Due To Structural X Chromosome Anomalies	Bicuspid aortic valve, Myocardial infarction, Ectopic kidney, Short neck, Micrognathia, High, nar...	ORPHA:99413
Multifocal Motor Neuropathy	Progressive distal muscle weakness, Progressive muscle weakness, Weakness of long finger extensor...	ORPHA:641
Combined Oxidative Phosphorylation Deficiency 31	Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Left ventricular non...	OMIM:617228
Mosaic Monosomy X	Bicuspid aortic valve, Myocardial infarction, Ectopic kidney, Short neck, Micrognathia, High, nar...	ORPHA:99228
Monosomy X	Bicuspid aortic valve, Myocardial infarction, Ectopic kidney, Short neck, Micrognathia, High, nar...	ORPHA:99226
Aplastic Anemia	Aplastic anemia, Bone marrow hypocellularity	OMIM:609135
Lethal Congenital Contracture Syndrome 5	Death in infancy, Small for gestational age, Elevated circulating creatine kinase concentration, ...	OMIM:615368
Turner Syndrome	Bicuspid aortic valve, Myocardial infarction, Ectopic kidney, Short neck, Micrognathia, High, nar...	ORPHA:881
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Mandibular prognathia, Overriding aorta, Carious teeth, Abnormal aortic arch morphology, Downturn...	ORPHA:1110
Behavioral Variant Of Frontotemporal Dementia	Astrocytosis, Frontotemporal cerebral atrophy, Inappropriate behavior, Gait disturbance, Fascicul...	ORPHA:275864
Galloway-Mowat Syndrome 4	Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Stage 5 chronic kidney d...	OMIM:617730
Bronchogenic Cyst	Back pain, Abnormality of the cervical spine, Abnormal pulmonary thoracic imaging finding, Pulmon...	ORPHA:2357
Focal Segmental Glomerulosclerosis 5	Proteinuria, Stage 5 chronic kidney disease, Hypertension, Focal segmental glomerulosclerosis, Mi...	OMIM:613237
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome	Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Unsteady gait, Impaired prop...	ORPHA:95434
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2	Amyotrophic lateral sclerosis, Bulbar palsy, Ataxia, Parkinsonism, Proximal muscle weakness, Babi...	OMIM:615911
Nephrotic Syndrome, Type 1	Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Sma...	OMIM:256300
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration	Cerebellar atrophy, Lower limb spasticity, Dystonia, Ataxia, Spastic tetraparesis, External ophth...	OMIM:612319
Hereditary Pheochromocytoma-Paraganglioma	Hypertensive retinopathy, Adrenal pheochromocytoma, Positive regitine blocking test, Flushing, Ex...	ORPHA:29072
Mitochondrial Complex I Deficiency, Nuclear Type 39	Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardio...	OMIM:620135
Galloway-Mowat Syndrome 8	Proteinuria, Abnormal cerebellum morphology, Stage 5 chronic kidney disease, Hematuria, Nephrotic...	OMIM:618349
Long Qt Syndrome 16	Patent ductus arteriosus after birth at term, T-wave alternans, Second degree atrioventricular bl...	OMIM:618782
Galloway-Mowat Syndrome 1	Diffuse mesangial sclerosis, Cerebellar atrophy, Renal insufficiency, Proteinuria, Small for gest...	OMIM:251300
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome	Ataxia, Abnormality of hair texture, Growth delay, Sparse or absent eyelashes, Gait disturbance, ...	ORPHA:2891
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Renal insufficiency, Proteinuria, Hematuria, Hypertension, Focal segmental glomerulosclerosis	OMIM:607832
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Abnormal circulating acylcarnitine concentration, Prolonged QT interval, Dicarboxylic aciduria, I...	ORPHA:71212
Drug-Induced Lupus Erythematosus	Pericarditis, Petechiae, Elevated circulating creatine kinase concentration, Elevated circulating...	ORPHA:231111
Monosomy 22	Aplasia of the thymus, Short neck, Hypochromic microcytic anemia, Hepatosplenomegaly, Contracture...	ORPHA:96123
Ataxia-Pancytopenia Syndrome	Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto...	OMIM:159550
Acute Interstitial Pneumonia	Nodular pattern on pulmonary HRCT, Elevated circulating C-reactive protein concentration, Crackle...	ORPHA:79126
Fanconi Anemia, Complementation Group T	Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia	OMIM:616435
Bardet-Biedl Syndrome 16	Respiratory distress, Recurrent respiratory infections, Renal insufficiency, Renal agenesis, Stag...	OMIM:615993
Trisomy 20P	Incoordination, Camptodactyly of finger, Spina bifida, Short neck, Highly arched eyebrow, Kyphosi...	ORPHA:261318
Combined Oxidative Phosphorylation Deficiency 52	Death in infancy, Renal insufficiency, Elevated circulating creatine kinase concentration, Hypera...	OMIM:619386
Neurodegeneration, Childhood-Onset, With Brain Atrophy	Cerebellar atrophy, Dystonia, Ataxia, Parkinsonism, Rigidity, Inability to walk, Chorea, Abnormal...	OMIM:617672
3C Syndrome	Hypoplasia of penis, Adrenal hypoplasia, Short neck, Micrognathia, High, narrow palate, Abnormali...	ORPHA:7
Catastrophic Antiphospholipid Syndrome	Angina pectoris, Transient ischemic attack, Myocardial infarction, Pulmonary embolism, Arterial o...	ORPHA:464343
Leptospirosis	Respiratory distress, First degree atrioventricular block, Cough, Papilledema, Hepatomegaly, Cell...	ORPHA:509
Heterotaxy, Visceral, 1, X-Linked	Respiratory distress, Congenital hip dislocation, Cardiomegaly, Asplenia, Aqueductal stenosis, De...	OMIM:306955
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Prolonged QT interval, Abnormal EKG, Ketonuria, Elevated circulating creatine kinase concentratio...	ORPHA:480864
Giant Axonal Neuropathy	Distal muscle weakness, Facial palsy, Proximal muscle weakness, Unsteady gait, Babinski sign, Spa...	ORPHA:643
Dextrocardia	Abnormal EKG, Meckel diverticulum, Congenital hip dislocation, Dextrocardia, Intestinal malrotati...	ORPHA:1666
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Death in infancy, Ventricular septal defect, Apnea, Respiratory failure, Bradycardia, Atrophy/Deg...	OMIM:616277
Lujo Hemorrhagic Fever	Respiratory distress, Stiff neck, Elevated circulating C-reactive protein concentration, Crackles...	ORPHA:319213
Idiopathic Non-Lupus Full-House Nephropathy	Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat...	ORPHA:567544
Mesoaxial Hexadactyly And Cardiac Malformation	Torticollis, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septa...	OMIM:249670
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Hepatosplenomegaly, T l...	OMIM:619924
Frontotemporal Dementia	Parkinsonism, Amyotrophic lateral sclerosis, Neuronal loss in central nervous system, Inappropria...	OMIM:600274
Syndromic Diarrhea	Villous atrophy, Bicuspid aortic valve, Colitis, Hypoplasia of the thymus, Atrial septal defect, ...	ORPHA:84064
Congenital Disorder Of Glycosylation, Type Ie	Smooth philtrum, Hepatomegaly, Respiratory distress, Elevated circulating creatine kinase concent...	OMIM:608799
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Lymphocyt...	OMIM:614470
Familial Hyperaldosteronism Type Iii	Prolonged QT interval, Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperal...	ORPHA:251274
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity	Pancytopenia	OMIM:600546
Galloway-Mowat Syndrome 10	Diffuse mesangial sclerosis, Cerebellar atrophy, Proteinuria, Stage 5 chronic kidney disease, Sim...	OMIM:619609
Mucopolysaccharidosis Type 3	Synophrys, Flexion contracture, Abnormal pyramidal sign, Atrioventricular block, Abnormal form of...	ORPHA:581
Galloway-Mowat Syndrome 5	Mandibular prognathia, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeruloscle...	OMIM:617731
Peters-Plus Syndrome	Ureteral duplication, Short lingual frenulum, Bilobate gallbladder, Limited elbow movement, Short...	OMIM:261540
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Cardiomegaly, Tachypnea, Ventricular tachycardia, Atrioventricula...	ORPHA:137675
Combined Oxidative Phosphorylation Deficiency 20	Hypertrophic cardiomyopathy, Left ventricular noncompaction	OMIM:615917
Ethylene Glycol Poisoning	Tachypnea, Hypocalcemia, Facial palsy, Episodic respiratory distress, Renal tubular dysfunction, ...	ORPHA:31826
Acitretin/Etretinate Embryopathy	Aplasia/Hypoplasia of the maxilla, Abnormal retinal morphology, Micrognathia, Antecubital pterygi...	ORPHA:40366
Ataxia-Telangiectasia-Like Disorder 2	Cerebellar atrophy, Conjunctival telangiectasia, Ataxia, Short stature, Congenital diaphragmatic ...	OMIM:615919
Charcot-Marie-Tooth syndrome type 1A (CMT1A)	Impaired vibratory sensation, Decreased motor nerve conduction velocity, Impaired temperature sen...	DECIPHER:29
Ogden Syndrome	Microretrognathia, Torticollis, Everted upper lip vermilion, Ventricular septal defect, Cryptorch...	ORPHA:276432
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Ragged-red muscle fibers, Flexion contracture, Dilated cardiomyopathy, Left ventricular noncompac...	OMIM:252011
Glycogen Storage Disease Xv	Scapular winging, ST segment elevation, Right bundle branch block, Cardiomyocyte hypertrophy, Par...	OMIM:613507
Hsd10 Disease	Ataxia, Postnatal growth retardation, Tremor, Rigidity, Optic atrophy, Frontotemporal cerebral at...	ORPHA:391417
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Chronic kidney disease, Elevated circulating creatinine concentration, Renal cyst, Gout, Anemia, ...	OMIM:617056
Immunodeficiency, Common Variable, 13	Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia	OMIM:616873
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3	Distal muscle weakness, Decreased nerve conduction velocity, Paraparesis, Distal sensory impairme...	OMIM:302802
Patent Ductus Arteriosus 2	Patent ductus arteriosus	OMIM:617035
Myopathy, Myofibrillar, 4	Autophagic vacuoles, Progressive distal muscle weakness, Progressive muscle weakness, Progressive...	OMIM:609452
Cardiogenic Shock	Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction...	ORPHA:97292
C1Q Deficiency 2	Elevated circulating C-reactive protein concentration, Atelectasis, Bronchiectasis, Oral ulcer, F...	OMIM:620321
Craniofaciofrontodigital Syndrome	Respiratory distress, Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly,...	ORPHA:363705
Glutaryl-Coa Dehydrogenase Deficiency	Joint dislocation, Glutaric aciduria, Chronic kidney disease, Subdural hemorrhage, Retinal hemorr...	ORPHA:25
Hurler Syndrome	Recurrent respiratory infections, Death in infancy, Hepatomegaly, Angina pectoris, Abnormal heart...	ORPHA:93473
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant	Elevated circulating creatine kinase concentration, First degree atrioventricular block, Peroneal...	OMIM:181350
Refractory Anemia With Excess Blasts	Abnormal circulating protein concentration, Acute myeloid leukemia, Abnormal bleeding, Anemia of ...	ORPHA:86839
Attrv122I Amyloidosis	Abnormal EKG, Increased circulating NT-proBNP concentration, Angina pectoris, Abnormal atrioventr...	ORPHA:85451
Nephrotic Syndrome, Type 24	Renal cortical hyperechogenicity, Focal segmental glomerulosclerosis, Podocyte foot process effac...	OMIM:619263
Incontinentia Pigmenti	Delayed eruption of teeth, Retinal detachment, Telangiectasia of the skin, Camptodactyly of finge...	ORPHA:464
Neonatal Lupus Erythematosus	Prolonged QT interval, Hemolytic anemia, Pancytopenia, Abnormal bleeding, Aplastic anemia, Hepato...	ORPHA:398124
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Tachycardia, Neonatal respiratory distress, Ventricular septal defect, Apnea, Flexion contracture...	OMIM:614653
Muscular Dystrophy, Congenital, With Or Without Seizures	Hypoglycosylation of alpha-dystroglycan, Ataxia, Proximal muscle weakness, Progressive muscle wea...	OMIM:620166
X-Linked Dominant Chondrodysplasia Punctata	Neuropathic spinal arthropathy, Abnormally ossified vertebrae, Short stature, Sparse eyelashes, K...	ORPHA:35173
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye...	ORPHA:2585
Feingold Syndrome 1	Accessory spleen, Ventricular septal defect, Tricuspid stenosis, Jejunal atresia, Micrognathia, A...	OMIM:164280
Pauci-Immune Glomerulonephritis	Renal interstitial immunoglobulin deposits, Oral ulcer, Tubulointerstitial nephritis, Granulomato...	ORPHA:93126
Adams-Oliver Syndrome 4	Atrial septal defect, Umbilical hernia, Patent ductus arteriosus, Ventricular septal defect	OMIM:615297
Simpson-Golabi-Behmel Syndrome	Mandibular prognathia, Bundle branch block, Ureteral duplication, Hypoplasia of penis, Congenital...	ORPHA:373
Primary Ciliary Dyskinesia	Atrial situs ambiguous, Asplenia, Abnormal sperm motility, Neonatal respiratory distress, Abnorma...	ORPHA:244
Congenital Left Ventricular Aneurysm	Apnea, Congestive heart failure, Abnormal ST segment, Abnormal left ventricle morphology, Abnorma...	ORPHA:1055
Spastic Paraplegia 79B, Autosomal Recessive	Flexion contracture, Impaired proprioception, Hoffmann sign, Dysmetria, Loss of ambulation, Inten...	OMIM:615491
Wild Type Attr Amyloidosis	Abnormal EKG, Renal insufficiency, Hepatomegaly, Proteinuria, Myocardial infarction, Congestive h...	ORPHA:330001
Lipoyltransferase 1 Deficiency	Cerebellar atrophy, Death in infancy, Hyperglutaminemia, Lacticaciduria, Hyperprolinemia, Alaninu...	OMIM:616299
Thrombotic Thrombocytopenic Purpura	Reticulocytosis, Renal insufficiency, Proteinuria, Myocardial infarction, Dyspnea, Hematuria, Str...	ORPHA:54057
Carnitine Deficiency, Systemic Primary	Respiratory distress, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase c...	OMIM:212140
Short-Rib Thoracic Dysplasia 12	Natal tooth, Hepatomegaly, Median cleft lip, Ventricular septal defect, Intestinal malrotation, H...	OMIM:269860
Pseudohypoparathyroidism Type 1B	Calcinosis, Prolonged QT interval, Delayed eruption of teeth, Decreased response to growth hormon...	ORPHA:94089
Holoprosencephaly	Hypoplasia of penis, Congenital diaphragmatic hernia, Short neck, Abnormality of the spleen, Deep...	ORPHA:2162
Lethal Infantile Mitochondrial Myopathy	Neonatal respiratory distress, Cardiomyopathy, Renal insufficiency, Lethargy	ORPHA:254857
Mucopolysaccharidosis, Type Iiid	Cerebellar atrophy, Thoracic scoliosis, Pilonidal sinus, Short stature, Thick eyebrow, Short neck...	OMIM:252940
Thiamine-Responsive Megaloblastic Anemia Syndrome	Diabetes mellitus, Ventricular septal defect, Cardiac arrest, Retinal dystrophy, Megaloblastic an...	ORPHA:49827
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Right axis deviation, Muscle fiber hyaline bodies, Elevated circulating creatine kinase concentra...	OMIM:255160
Cirrhotic Cardiomyopathy	Increased circulating NT-proBNP concentration, Cardiomegaly, Global systolic dysfunction, Abnorma...	ORPHA:57777
Congenital Myopathy 8	Internally nucleated skeletal muscle fibers, Cardiomegaly, Increased variability in muscle fiber ...	OMIM:618654
Pulmonary Alveolar Microlithiasis	Calcium nephrolithiasis, Bronchitis, Nonproductive cough, Tachypnea, Increased circulating surfac...	ORPHA:60025
Al Amyloidosis	Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Nonproductive cough, Xerostom...	ORPHA:85443
Propionic Acidemia	Hepatomegaly, Pancytopenia, Increased level of hippuric acid in urine, Apnea, Thrombocytopenia, C...	OMIM:606054
Bardet-Biedl Syndrome 19	Cone/cone-rod dystrophy, Ventricular septal defect, Partial atrioventricular canal defect, Patent...	OMIM:615996
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Hypertrophic cardiomyopathy, Patent ductus arteriosus, Left ventricular noncompaction	OMIM:616501
Bannayan-Riley-Ruvalcaba Syndrome	Neoplasm of the adrenal cortex, Skeletal muscle atrophy, Intestinal polyposis, Angina pectoris, C...	ORPHA:109
Andersen Cardiodysrhythmic Periodic Paralysis	Dental crowding, Micrognathia, Hypoplasia of the maxilla, Oligodontia, High palate, Antegonial no...	OMIM:170390
Mitochondrial Complex I Deficiency, Nuclear Type 13	Hepatomegaly, Death in infancy, Apnea, Cardiac arrest, Bradycardia, Hypertrophic cardiomyopathy, ...	OMIM:618235
Multifocal Atrial Tachycardia	Effort-induced polymorphic ventricular tachycardia, Tachypnea, Abnormal left ventricular function...	ORPHA:3282
Neurodegeneration With Brain Iron Accumulation 2A	Cerebellar atrophy, Ataxia, Decreased nerve conduction velocity, Unsteady gait, Generalized muscl...	OMIM:256600
Leukoencephalopathy, Progressive, With Ovarian Failure	Cerebellar atrophy, Dystonia, Ataxia, Premature ovarian insufficiency, Babinski sign, Hand tremor...	OMIM:615889
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia	Amyotrophic lateral sclerosis, Distal amyotrophy	OMIM:205200
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Redundant neck skin, Elevated circulating creatine kinase concentration, Abnormal left ventricula...	OMIM:301056
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated urinary 3-hydroxybutyric acid, Skeletal muscle atrophy, Hepatomegaly, Dicarboxylic acidu...	ORPHA:42
Perlman Syndrome	Everted upper lip vermilion, Nephrogenic rest, Tented upper lip vermilion, Renal hamartoma, Conge...	OMIM:267000
Cardiomyopathy, Familial Hypertrophic, 27	Prolonged QT interval, Tricuspid regurgitation, Pterygium, Cardiac arrest, Cardiomegaly, Left ven...	OMIM:618052
Preeclampsia	Increased body mass index, Proteinuria, Abnormality of the kidney, Small for gestational age, Chr...	ORPHA:275555
Nephrotic Syndrome, Type 9	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypoalbuminemia,...	OMIM:615573
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Tachycardia, Decreased serum insulin-like growth factor 1, Ventricular septal defec...	OMIM:614921
D-Glyceric Aciduria	Neonatal respiratory distress, Optic nerve hypoplasia, Patent ductus arteriosus, Nonketotic hyper...	OMIM:220120
Cardiomyopathy, Dilated, 1Nn	Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D...	OMIM:615916
Recombinant Chromosome 8 Syndrome	Thin upper lip vermilion, Ventricular septal defect, Micrognathia, Abnormality of the dentition, ...	OMIM:179613
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Prolonged bleeding time, Hepatomegaly, Peripheral arteriovenous fist...	ORPHA:90308
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Respiratory distress, Short neck, Flexion contracture, Leukopenia, Hypoalbuminemia, Atrial septal...	ORPHA:505248
Bone Marrow Failure And Diabetes Mellitus Syndrome	Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias	OMIM:620044
Nephrotic Syndrome, Type 3	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru...	OMIM:610725
Coenzyme Q10 Deficiency, Primary, 6	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ...	OMIM:614650
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Orthostatic hypotension, Tachycardia, Neuropathic arthropathy, Recurrent infections due to aspira...	OMIM:223900
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Abnormal dental enamel morp...	ORPHA:251004
Viss Syndrome	Tortuous cerebral arteries, Epidural hemorrhage, Prominent superficial blood vessels, Chronic gas...	OMIM:619472
Distal Deletion 15Q	Bicuspid aortic valve, Congenital diaphragmatic hernia, Micrognathia, Abnormal aortic arch morpho...	ORPHA:1596
Combined Oxidative Phosphorylation Deficiency 8	Neonatal death, Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Card...	OMIM:614096
Hypoplastic Left Heart Syndrome	Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial...	ORPHA:2248
Pierson Syndrome	Diffuse mesangial sclerosis, Skeletal muscle atrophy, Retinal detachment, Proteinuria, Remnants o...	OMIM:609049
Combined Oxidative Phosphorylation Deficiency 11	Death in infancy, Renal insufficiency, Hepatomegaly, Renal hypoplasia, Renal cyst, Renal tubular ...	OMIM:614922
Noonan Syndrome With Multiple Lentigines	Abnormal endocardium morphology, Bundle branch block, Scapular winging, Hypospadias, Abnormal pul...	ORPHA:500
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic acidemia, Hepatomegaly, Respiratory distress, Cerebellar hemorrhage, Stage 5 chroni...	OMIM:251000
Genetic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Respira...	ORPHA:656
Nephrotic Syndrome, Type 23	Proteinuria, Mesangial hypercellularity, Minimal change glomerulonephritis, Focal segmental glome...	OMIM:619201
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	Scapular winging, Hyperlordosis, Progressive muscle weakness, Gowers sign, Ragged-red muscle fibe...	OMIM:600462
Distal Triplication 15Q	Abnormality of the kidney, Craniosynostosis, Micrognathia, Large for gestational age, Patent duct...	ORPHA:314588
Heart Defects-Limb Shortening Syndrome	Atrial septal defect, Ventricular septal defect, Abnormal tricuspid valve morphology, Abnormal mi...	ORPHA:1354
Oculorenocerebellar Syndrome	Glomerular sclerosis, Nephropathy, Retinal degeneration	OMIM:257970
Ventricular Septal Defect 3	Pulmonary artery stenosis, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:614432
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Abnormal lower motor neuron morphology, Waddling gait, Lower limb muscle weakness, Respiratory in...	ORPHA:2590
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14	Prolonged QT interval, Hypoglycosylation of alpha-dystroglycan, Elevated circulating creatine kin...	OMIM:615351
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Brittle hair, Short stature, Camptodactyly of finger, Kyphosis, Coarse hair, Joint contracture of...	ORPHA:1883
Trichodysplasia-Xeroderma Syndrome	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod...	ORPHA:3361
Juvenile Primary Lateral Sclerosis	Skeletal muscle atrophy, Spastic tetraparesis, Abnormal pyramidal sign, Spastic dysarthria, Gait ...	ORPHA:247604
Farber Disease	Respiratory distress, Skeletal muscle atrophy, Nodular pattern on pulmonary HRCT, Flexion contrac...	ORPHA:333
Myopathy, Myofibrillar, 1	Facial palsy, Respiratory insufficiency due to muscle weakness, Dilated cardiomyopathy, EMG: myop...	OMIM:601419
Lethal Congenital Contracture Syndrome 8	Death in infancy, Flexion contracture, Vocal cord paralysis, Distal sensory impairment, Facial di...	OMIM:616287
Amyotrophic Lateral Sclerosis 20	Amyotrophic lateral sclerosis, Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy	OMIM:615426
Megabladder, Congenital	Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ...	OMIM:618719
Nephrotic Syndrome, Type 4	Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosc...	OMIM:256370
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Pancytopenia, Diabetes mellitus, Proteinuria, Polyuria, Renal salt wasting, Hypomag...	OMIM:613845
Mitochondrial Complex I Deficiency, Nuclear Type 37	Cerebellar atrophy, Skeletal muscle atrophy, Respiratory distress, Hypospadias, Stroke-like episo...	OMIM:619272
Bohring-Opitz Syndrome	Joint dislocation, Apnea, Cardiomegaly, Micrognathia, Coloboma, Congenital contracture, Prominent...	ORPHA:97297
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy	Focal segmental glomerulosclerosis, Nephropathy, IgA deposition in the glomerulus	OMIM:182690
Microgastria-Limb Reduction Defect Syndrome	Congenital muscular torticollis, Abnormality of the spleen, Abnormal lung lobation, Atrial septal...	ORPHA:2538
Nephrotic Syndrome, Type 26	Focal segmental glomerulosclerosis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Sta...	OMIM:620049
Peripartum Cardiomyopathy	Crackles, Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnorm...	ORPHA:563
Carnitine-Acylcarnitine Translocase Deficiency	Ventricular hypertrophy, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinas...	OMIM:212138
Nephrotic Syndrome, Type 21	Diffuse mesangial sclerosis, Podocyte foot process effacement, Steroid-resistant nephrotic syndro...	OMIM:618594
Immunodeficiency 21	Megakaryocyte nucleus hypolobulation, Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytope...	OMIM:614172
Pseudohypoparathyroidism Type 1C	Calcinosis, Prolonged QT interval, Delayed eruption of teeth, Hypergonadotropic hypogonadism, Dec...	ORPHA:79444
Amyotrophic Lateral Sclerosis 23	Degeneration of anterior horn cells, Amyotrophic lateral sclerosis	OMIM:617839
Cockayne Syndrome Type 1	Mandibular prognathia, Widely spaced primary teeth, Hypoplasia of the primary teeth, Male hypogon...	ORPHA:90321
Wt Limb-Blood Syndrome	Thrombocytopenia, Pancytopenia, Hypoplastic anemia, Leukemia	OMIM:194350
Maternally-Inherited Diabetes And Deafness	Glomerulopathy, Renal insufficiency, Proteinuria, Abnormal chorioretinal morphology, Malabsorptio...	ORPHA:225
Autosomal Dominant Polycystic Kidney Disease	Renal cyst, Abnormal systemic arterial morphology, Decreased glomerular filtration rate, Elevated...	ORPHA:730
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Neonatal death, Patent ductus arteriosus, Abnormal cardiac septum morphology, Coarctation of aorta	OMIM:601612
C3 Glomerulopathy	Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Drusen, Glomer...	ORPHA:329918
Oculocerebrorenal Syndrome Of Lowe	Mandibular prognathia, Hyperparathyroidism, Dental crowding, Hypoammonemia, Chorioretinal dysplas...	ORPHA:534
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Respiratory distress, Multiple joint contractures, Micrognathia, Multiple joint dislocation, High...	ORPHA:536467
Cerebellar-Facial-Dental Syndrome	Short neck, Micrognathia, Hypoplasia of the pons, Hypoplasia of the brainstem, Abnormal T-wave, C...	ORPHA:444072
Neurodegeneration With Brain Iron Accumulation 4	Abnormal lower motor neuron morphology, Cerebellar atrophy, Scapular winging, Distal muscle weakn...	OMIM:614298
Focal Segmental Glomerulosclerosis 7	Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis...	OMIM:616002
Lethal Congenital Contracture Syndrome 7	Cerebellar atrophy, Skeletal muscle atrophy, Paralysis, Cerebral atrophy, Knee flexion contractur...	OMIM:616286
Nephrotic Syndrome, Type 17	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Microscopic hema...	OMIM:618176
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Frontal polymicrogyria, Failure to thrive, Cerebellar vermis hypoplasia, Ventricular septal defec...	OMIM:620024
Eosinophilic Granulomatosis With Polyangiitis	Myositis, Sinusitis, Myocardial infarction, Tubulointerstitial nephritis, Cough, Acrocyanosis, Gl...	ORPHA:183
Focal Segmental Glomerulosclerosis 6	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr...	OMIM:614131
Glut1 Deficiency Syndrome 1	Paroxysmal dystonia, Ataxia, Paralysis, Babinski sign, Spasticity, Choreoathetosis, Hemiparesis, ...	OMIM:606777
Atrial Septal Defect, Ostium Primum Type	First degree atrioventricular block, Tachypnea, Atrioventricular block, Fixed splitting of the se...	ORPHA:99106
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Ketonuria, Elevated circulating creatine kinase concentration, Cardiac arrest, Acute rhabdomyolys...	OMIM:616878
Nephrotic Syndrome, Type 12	Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulo...	OMIM:616892
Pyruvate Dehydrogenase E3 Deficiency	Increased urine alpha-ketoglutarate concentration, Hepatomegaly, Abnormal cardiac ventricular fun...	ORPHA:2394
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome	Chorea, Progressive proximal muscle weakness, Cerebral atrophy, Myopathy, Hyperkinetic movements,...	ORPHA:369847
Encephalocraniocutaneous Lipomatosis	Craniofacial hyperostosis, Coarctation of aorta, Abnormal aortic morphology, Interrupted aortic a...	ORPHA:2396
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Elevated circulating C-reactive protein concentration, Large vessel vasculitis...	ORPHA:49041
Muscle Filaminopathy	Extremely elevated creatine kinase, Scapular winging, Left ventricular diastolic dysfunction, Fat...	ORPHA:171445
Bacterial Toxic-Shock Syndrome	Respiratory distress, Myositis, Sinusitis, Elevated circulating creatine kinase concentration, Ta...	ORPHA:36234
Lymphoproliferative Syndrome, X-Linked, 2	Splenomegaly, Pancytopenia, Aplastic anemia, Hemophagocytosis	OMIM:300635
Infantile Sialic Acid Storage Disease	Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Congestive heart failure, Splenomegaly...	OMIM:269920
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Recurrent respiratory infections, Broad-based gait, Dystonia, Ataxia, Ground-glass opacification,...	OMIM:610978
Brugada Syndrome	Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment...	ORPHA:130
Short Stature-Wormian Bones-Dextrocardia Syndrome	Delayed eruption of teeth, Abnormality of the philtrum, Camptodactyly of finger, Dextrocardia, Re...	ORPHA:2863
Alagille Syndrome 1	Multiple small medullary renal cysts, Papillary thyroid carcinoma, Atrial septal defect, Vesicour...	OMIM:118450
Myotubular Myopathy With Abnormal Genital Development	Respiratory distress, Death in infancy, Hypospadias, Unilateral cryptorchidism, Centrally nucleat...	OMIM:300219
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Renal insufficiency, Macrocytic anemia, Thrombocytopenia, Optic atrophy, Hyperammon...	ORPHA:27
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Pulmonary artery atresia, Ventricular septal defect, Left superior vena cava draining directly to...	OMIM:613759
Denys-Drash Syndrome	Diffuse mesangial sclerosis, Posterolateral diaphragmatic hernia, Neonatal respiratory distress, ...	OMIM:194080
Combined Oxidative Phosphorylation Deficiency 10	Small for gestational age, Cardiomegaly, Pericardial effusion, Optic atrophy, Hyperammonemia, Ple...	OMIM:614702
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Respiratory distress, Sideroblastic anemia, Hepatomegaly, Respiratory insufficiency due to muscle...	OMIM:613561
Nephrotic Syndrome, Type 18	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch...	OMIM:618177
Nephrotic Syndrome, Type 19	Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan...	OMIM:618178
Nephrotic Syndrome, Type 20	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch...	OMIM:301028
Ane Syndrome	Alopecia, Multiple joint contractures, Short stature, Hypogonadotropic hypogonadism, Kyphoscolios...	ORPHA:157954
16P13.11 Microduplication Syndrome	Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept...	ORPHA:261243
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Short neck, Deep philtrum, Chiari type I malformation, High palate, Widely spaced teeth, Atrial s...	OMIM:617506
Focal Segmental Glomerulosclerosis 8	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:616032
Nephrotic Syndrome, Type 13	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:616893
Giant Axonal Neuropathy 1, Autosomal Recessive	Decreased number of peripheral myelinated nerve fibers, Curly hair, Distal muscle weakness, Facia...	OMIM:256850
Wiskott-Aldrich Syndrome	Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Intracranial hemorrhage, Inflammati...	ORPHA:906
Amaurosis-Hypertrichosis Syndrome	Abnormal eyelash morphology, Synophrys, Optic atrophy, Coarse hair, Thick eyebrow	ORPHA:1021
Rift Valley Fever	Abnormal bleeding, Miscarriage, Retinitis, Hematemesis, Thrombocytopenia, Jaundice, Retinal hemor...	ORPHA:319251
Homozygous Familial Hypercholesterolemia	Myocardial infarction, Precocious atherosclerosis, Abnormal internal carotid artery morphology, A...	ORPHA:391665
Zygomycosis	Sinusitis, Acute infectious pneumonia, Air crescent sign, Colitis, Neutropenia, Cough, Nephritis,...	ORPHA:73263
Renal Failure, Progressive, With Hypertension	Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ...	OMIM:161900
Brown-Vialetto-Van Laere Syndrome 1	Hand muscle atrophy, Skeletal muscle atrophy, Vocal cord paralysis, Tongue fasciculations, Death ...	OMIM:211530
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Pneumonia, E...	OMIM:602450
Hadziselimovic Syndrome	Ventricular hypertrophy, Atrial septal defect, Failure to thrive, Ventricular septal defect, Thic...	OMIM:612946
Fryns Syndrome	Tented upper lip vermilion, Congenital diaphragmatic hernia, Short neck, Micrognathia, Abnormal a...	ORPHA:2059
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Respiratory distress, Hypomethioninemia, Pulmonary embolism, Megaloblastic anemia, Hyperhomocysti...	ORPHA:79282
Familial Drusen	Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid...	ORPHA:75376
T-Cell Immunodeficiency With Thymic Aplasia	Recurrent urinary tract infections, Decreased proportion of naive T cells, Aplasia of the thymus,...	ORPHA:83471
Hutchinson-Gilford Progeria Syndrome	Prominent superficial blood vessels, Dental crowding, Short lingual frenulum, Myocardial infarcti...	ORPHA:740
Nephrotic Syndrome, Type 2	Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ...	OMIM:600995
Fanconi-Like Syndrome	Pancytopenia	OMIM:227850
Combined Oxidative Phosphorylation Deficiency 49	Progressive muscle weakness, Ragged-red muscle fibers, Difficulty walking	OMIM:619024
Hemochromatosis, Type 2A	Hepatomegaly, Hypogonadotropic hypogonadism, Increased circulating ferritin concentration, Conges...	OMIM:602390
Focal Segmental Glomerulosclerosis 10	Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea...	OMIM:256020
Familial Aortic Dissection	Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Mucoid extracellular ...	ORPHA:229
Fallot Complex With Severe Mental And Growth Retardation	Ventricular septal defect, Tetralogy of Fallot, Pulmonic stenosis, Double outlet right ventricle,...	OMIM:601127
Spinocerebellar Ataxia-Dysmorphism Syndrome	Optic atrophy, Coarse hair, Spina bifida occulta, Short stature	ORPHA:1185
Giant Cell Arteritis	Cough, Abdominal aortic aneurysm, Diabetes insipidus, Sudden cardiac death, Recurrent pharyngitis...	ORPHA:397
Granulomatosis With Polyangiitis	Sinusitis, Diffuse alveolar hemorrhage, Retinal hemorrhage, Localized pulmonary hemorrhage, Oral ...	OMIM:608710
Lymphedema, Primary, With Myelodysplasia	Acute myeloid leukemia, Pancytopenia, Decreased CD4:CD8 ratio, Leukemia	OMIM:614038
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Exercise-induced rhabdomyolysis, Death in infancy, Dicarboxylic aciduria, Necrotizing enterocolit...	OMIM:201475
Chromosome 18Q Deletion Syndrome	Mandibular prognathia, Decreased response to growth hormone stimulation test, Short neck, Downtur...	OMIM:601808
Congenital Disorder Of Glycosylation, Type Ig	Respiratory distress, Retinal detachment, Thin upper lip vermilion, Hypospadias, Small for gestat...	OMIM:607143
Idiopathic Congenital Hypothyroidism	Large posterior fontanelle, Elevated circulating thyroid-stimulating hormone concentration, Incre...	ORPHA:95717
His Bundle Tachycardia	Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia, Neoplasm of the heart	ORPHA:3283
Sepsis In Premature Infants	Abnormal mucociliary clearance, Elevated circulating C-reactive protein concentration, Neutropeni...	ORPHA:90051
Fish-Eye Disease	Decreased HDL cholesterol concentration, Hepatomegaly, Angina pectoris, Splenomegaly, Lymphadenop...	ORPHA:79292
Focal Segmental Glomerulosclerosis 9	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome	OMIM:616220
Pseudohypoparathyroidism Type 1A	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:79443
Dysbetalipoproteinemia	Accelerated atherosclerosis, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyce...	ORPHA:412
Aortic Aneurysm, Familial Thoracic 4	Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebral artery stenosis, Th...	OMIM:132900
Congenital Aortic Valve Stenosis	Angina pectoris, Thoracic aortic aneurysm, Sudden cardiac death, Aortic valve calcification, Aort...	ORPHA:3093
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Hypospadias, Glomerulonephritis, Proteinuria, Hip dislocation, Gingival overgrowth, Nephrotic syn...	OMIM:619428
Hemorrhagic Fever-Renal Syndrome	Respiratory distress, Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulo...	ORPHA:340
Meningococcal Meningitis	Shock, Papilledema, Renal insufficiency, Stiff neck, Neonatal respiratory distress, Elevated circ...	ORPHA:33475
Isovaleric Acidemia	Leukopenia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia	OMIM:243500
Peroxisome Biogenesis Disorder 11B	Respiratory tract infection, Progressive muscle weakness, Muscle weakness	OMIM:614885
Acute Peripheral Arterial Occlusion	Myocardial infarction, Paralysis, Abnormal capillary physiology, Absent ankle pulse, Paresthesia,...	ORPHA:90064
Diaminopentanuria	Spasticity, Neurodegeneration, Ataxia	OMIM:222350
Kleefstra Syndrome	Mandibular prognathia, Hypoplasia of penis, Tented upper lip vermilion, Bicuspid aortic valve, Re...	ORPHA:261494
Mucopolysaccharidosis, Type Iiic	Kyphoscoliosis, Synophrys, Recurrent upper respiratory tract infections, Ovoid thoracolumbar vert...	OMIM:252930
Glycosylphosphatidylinositol Biosynthesis Defect 25	Short stature, Ankle flexion contracture, Coarse hair, Death in childhood, Sparse hair	OMIM:619985
Idiopathic Camptocormia	Amyotrophic lateral sclerosis, Myositis, Abnormal intervertebral disk morphology, Parkinsonism, F...	ORPHA:1320
Uncombable Hair Syndrome	Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Mandibular prognathia, Bicuspid aortic valve, Short neck, Micrognathia, Widely spaced teeth, High...	OMIM:612474
Distal 7Q11.23 Microduplication Syndrome	Cryptorchidism, Patent ductus arteriosus, Frontal encephalocele, Aortic aneurysm	ORPHA:261102
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Situs inversus totalis, Elevated circulating c...	OMIM:602088
Primary Lateral Sclerosis, Juvenile	Appendicular spasticity, Spastic tetraparesis, Decreased compound muscle action potential amplitu...	OMIM:606353
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Cerebellar atrophy, Progressive external ophthalmoplegia, Facial palsy, Progressive muscle weakne...	OMIM:610131
Igg4-Related Aortitis	Thoracic aortic aneurysm, Abnormal aortic arch morphology, Weight loss, Ascending tubular aorta a...	ORPHA:449400
Hutchinson-Gilford Progeria Syndrome	Angina pectoris, Myocardial infarction, Precocious atherosclerosis, Micrognathia, Congestive hear...	OMIM:176670
Juvenile Dermatomyositis	Bundle branch block, Myositis, Elevated circulating creatine kinase concentration, Elevated circu...	ORPHA:93672
T-Cell Immunodeficiency With Thymic Aplasia	Failure to thrive, Aplasia of the thymus, Recurrent bronchopulmonary infections, Recurrent pneumo...	OMIM:242700
Familial Atrial Myxoma	Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Pedal edema, Bacterial endocarditis, Ascites	ORPHA:615
Gillespie Syndrome	Truncus arteriosus	OMIM:206700
Nephrotic Syndrome, Type 8	Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease,...	OMIM:615244
Primary Myelofibrosis	Bone marrow hypercellularity, Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leuko...	ORPHA:824
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Joint dislocation, Decreased muscle mass, High, narrow palate, Wrist drop, Joint subluxation, Mus...	ORPHA:1900
Long Qt Syndrome 13	Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri...	OMIM:613485
Trichinellosis	Facial palsy, Trismus, Limitation of neck motion, Retinal hemorrhage, Central retinal artery occl...	ORPHA:863
Exercise-Induced Malignant Hyperthermia	Prolonged QT interval, Abnormal bleeding, Acute kidney injury, Elevated circulating creatine kina...	ORPHA:466650
Phosphoribosylpyrophosphate Synthetase Superactivity	Renal insufficiency, Hypertension, Cardiomyopathy, Abnormal aortic morphology, Hyperuricemia, Arr...	ORPHA:3222
Classic Glucose Transporter Type 1 Deficiency Syndrome	Dystonia, Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hypertonia, Myoclonus, Extrapy...	ORPHA:71277
Intellectual Developmental Disorder, Autosomal Dominant 21	Cryptorchidism, Patent ductus arteriosus, Cleft palate, Coarctation of aorta, Thin vermilion bord...	OMIM:615502
Hereditary Amyloidosis With Primary Renal Involvement	Decreased HDL cholesterol concentration, Intestinal perforation, Tubulointerstitial nephritis, Ne...	ORPHA:85450
Grange Syndrome	Patent ductus arteriosus, Ventricular septal defect, Arterial stenosis	ORPHA:79094
Intellectual Developmental Disorder, Autosomal Recessive 73	Patent ductus arteriosus, Ventricular septal defect	OMIM:619717
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Thrombocy...	OMIM:617780
Jaberi-Elahi Syndrome	Appendicular spasticity, Broad-based gait, Distal muscle weakness, Brittle hair, Sparse eyelashes...	OMIM:617988
Jervell And Lange-Nielsen Syndrome 1	Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval	OMIM:220400
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Elevated circulating creatine kinase concentration, Ankle flexion contracture, Dilated cardiomyop...	OMIM:618120
Diffuse Alveolar Hemorrhage	Respiratory failure requiring assisted ventilation, Proteinuria, Ground-glass opacification, Thro...	ORPHA:90060
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hepatomegaly, Tachycardia, Large for gestational age, Hyperinsulinemia, Decreased circulating fre...	ORPHA:276575
Sinoatrial Node Dysfunction And Deafness	Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia	OMIM:614896
Muscular Dystrophy, Cardiac Type	Abnormal EKG, Elevated circulating creatine kinase concentration, Cardiomyopathy, Muscular dystro...	OMIM:309930
Focal Segmental Glomerulosclerosis 4, Susceptibility To	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease	OMIM:612551
Congenital Disorder Of Glycosylation, Type Ih	Death in infancy, Hepatomegaly, Short neck, Cryptorchidism, Patent ductus arteriosus, Thrombocyto...	OMIM:608104
Pleural Mesothelioma	Respiratory distress, Hepatomegaly, Abnormal pleura morphology, Dyspnea, Abnormal lung morphology...	ORPHA:50251
Mitochondrial Complex I Deficiency, Nuclear Type 6	Skeletal muscle atrophy, Optic disc pallor, Apnea, Optic atrophy, Respiratory insufficiency, Left...	OMIM:618228
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3	Paresis of extensor muscles of the big toe, Distal lower limb muscle weakness, Difficulty walking...	OMIM:608634
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Respiratory distress, Neonatal respiratory distress, Redundant neck skin, Hypospadias, Short neck...	OMIM:217980
Cardiomyopathy, Familial Hypertrophic, 11	Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Dyspnea, Ventricular t...	OMIM:612098
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Thin upper lip vermilion, Cerebellar vermis hypoplasia, Ventricular septal defect, Unilateral ren...	OMIM:618494
X-Linked Mandibulofacial Dysostosis	Cryptorchidism, Branchial anomaly, Pulmonic stenosis, Webbed neck, Abnormal mitral valve morpholo...	ORPHA:1131
Incontinentia Pigmenti	Ridged nail, Alopecia, Short stature, Kyphoscoliosis, Supernumerary nipple, Optic atrophy, Hemive...	OMIM:308300
Thrombotic Thrombocytopenic Purpura, Hereditary	Respiratory distress, Reticulocytosis, Transient ischemic attack, Proteinuria, Myocardial infarct...	OMIM:274150
Congenital Fiber-Type Disproportion Myopathy	Progressive muscle weakness, Flexion contracture, Knee flexion contracture, Aspiration pneumonia,...	ORPHA:2020
Cardiac Conduction Defect	Arrhythmia, Syncope	OMIM:115080
Mucopolysaccharidosis, Type Iiia	Synophrys, Recurrent upper respiratory tract infections, Ovoid thoracolumbar vertebrae, Asymmetri...	OMIM:252900
Thyrotoxic Periodic Paralysis	Myotonia, Decreased urinary potassium, Thyrotoxicosis with diffuse goiter, Impaired myocardial co...	ORPHA:79102
Alg3-Cdg	Abnormality of the endocrine system, Hypoplasia of the pons, Coarctation of the descending aortic...	ORPHA:79321
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Failure to thrive, Thick lower lip vermilion, Simplified gyral pattern, Atrioventricular block, J...	OMIM:614407
Lymphangioleiomyomatosis	Abnormal urinary color, Cough, Emphysema, Renal neoplasm, Atelectasis, Lymphadenopathy, Pulmonary...	ORPHA:538
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis	OMIM:616208
Dihydropyrimidine Dehydrogenase Deficiency	Optic atrophy, Coloboma, Uraciluria, Lethargy, Failure to thrive	OMIM:274270
Immunoneurologic Disorder, X-Linked	Neonatal death, Progressive proximal muscle weakness, Spastic paraplegia, Small for gestational age	OMIM:300076
Transaldolase Deficiency	Pancytopenia, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Hepatosplenomega...	OMIM:606003
Ciliary Dyskinesia, Primary, 29	Recurrent respiratory infections, Atelectasis, Bronchiectasis, Infertility	OMIM:615872
Ectodermal Dysplasia-Syndactyly Syndrome 1	Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Coarse h...	OMIM:613573
Immunodeficiency 109 With Lymphoproliferation	Splenomegaly, Pancytopenia, Absent circulating B cells	OMIM:620282
Chops Syndrome	Curly hair, Short stature, Thick hair, Cryptorchidism, Synophrys, Optic atrophy, Obesity, Anomalo...	OMIM:616368
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hepatomegaly, Tachycardia, Maternal diabetes, Large for gestational age, Hyperinsulinemia, Syncop...	ORPHA:276580
Igg4-Related Kidney Disease	Elevated circulating C-reactive protein concentration, Lymphadenitis, Abnormal lung morphology, R...	ORPHA:449395
Methylmalonic Acidemia With Homocystinuria Type Cblf	Hypomethioninemia, Unilateral renal agenesis, Megaloblastic anemia, Intraventricular hemorrhage, ...	ORPHA:79284
Lateral Meningocele Syndrome	Vertebral fusion, Decreased muscle mass, Tethered cord, Short stature, Short neck, Kyphosis, Cryp...	OMIM:130720
Hall-Riggs Syndrome	Short stature, Thick hair, Slow-growing hair, Coarse hair, Platyspondyly, Scoliosis, Failure to t...	ORPHA:2107
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Increased serum pyruvate, Death in infancy, Hepatomegaly, Cerebellar atrophy, Respiratory distres...	OMIM:604377
Lissencephaly 1	Dilation of Virchow-Robin spaces, Subcortical band heterotopia, Gray matter heterotopia, Hypoplas...	OMIM:607432
Familial Thyroid Dyshormonogenesis	Positive perchlorate discharge test, Large posterior fontanelle, Thyroid defect in oxidation and ...	ORPHA:95716
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Megaloblastic anemia, Cystathioninuria, Hyperhomocystinemia, High palate, Neutropenia, Atrial sep...	OMIM:277380
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Crackles, Cough, Lethargy, Hilar lymph node enlargement, Hepatomegaly, Tricuspid regurgitation, A...	OMIM:620233
Relapsing Fever	Abnormal bleeding, Tachycardia, Neutrophilia, Epistaxis, Elevated circulating C-reactive protein ...	ORPHA:91547
Mitochondrial Trifunctional Protein Deficiency 1	Small for gestational age, Elevated circulating creatine kinase concentration, Elevated circulati...	OMIM:609015
Peroxisome Biogenesis Disorder 1A (Zellweger)	Redundant neck skin, Adrenal hypoplasia, Micrognathia, High, narrow palate, Aminoaciduria, High p...	OMIM:214100
Gitelman Syndrome	Prolonged QT interval, Polyuria, Renal magnesium wasting, Rhabdomyolysis, Ventricular tachycardia...	OMIM:263800
Congenital Fibrinogen Deficiency	Decreased testicular size, Abnormal bleeding, Tachycardia, Cyanosis, Hemorrhagic ovarian cyst, Sp...	ORPHA:335
Hyperinsulinism Due To Ucp2 Deficiency	Hepatomegaly, Tachycardia, Large for gestational age, Decreased circulating free fatty acid level...	ORPHA:276556
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Left atrial e...	OMIM:619897
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1	Pancytopenia, Aplastic anemia, Bone marrow hypocellularity, Myeloid leukemia, Anemia	OMIM:614742
Autosomal Dominant Progressive External Ophthalmoplegia	Elevated circulating creatine kinase concentration, Quadriceps muscle weakness, Ragged-red muscle...	ORPHA:254892
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Alopecia, Brittle hair, Short stature, Pulmonary artery stenosis, Coarse hair, Nail dystrophy, In...	ORPHA:75389
Aicardi-Goutieres Syndrome 4	Splenomegaly, Pancytopenia, Thrombocytopenia, Hepatosplenomegaly	OMIM:610333
De Sanctis-Cacchione Syndrome	Severe short stature, Ataxia, Bilateral cryptorchidism, Axonal degeneration, Scissor gait, Optic ...	OMIM:278800
Glutamine Deficiency, Congenital	Hypoglutaminemia, Recurrent respiratory infections, Neonatal respiratory distress, Apnea, Flexion...	OMIM:610015
Congenital Myopathy 22A, Classic	Dental crowding, Micrognathia, Ragged-red muscle fibers, High palate, Generalized amyotrophy, Neo...	OMIM:620351
Treacher-Collins Syndrome	Hypoplasia of penis, Micrognathia, Hypoplasia of the maxilla, Glossoptosis, Hypoplasia of the thy...	ORPHA:861
Central Retinal Vein Occlusion	Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P...	ORPHA:411527
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Glomerulonephritis, Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage,...	ORPHA:99931
Retinal Arteries, Tortuosity Of	Retinal arteriolar tortuosity, Retinal hemorrhage	OMIM:180000
Koolen-De Vries Syndrome	Bicuspid aortic valve, High palate, Widely spaced teeth, Atrial septal defect, Vesicoureteral ref...	OMIM:610443
Diabetic Embryopathy	Ureteral duplication, Ventricular septal defect, Renal hypoplasia/aplasia, Micrognathia, Cryptorc...	ORPHA:1926
Brugada Syndrome 9	Prolonged QT interval, ST segment elevation, Palpitations, Presyncope	OMIM:616399
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly	ORPHA:88643
Deafness, Congenital Heart Defects, And Posterior Embryotoxon	Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis	OMIM:617992
Nestor-Guillermo Progeria Syndrome	Dental crowding, Limited elbow movement, Micrognathia, Flexion contracture, Atherosclerosis, Micr...	OMIM:614008
Hereditary Pulmonary Alveolar Proteinosis	Abnormal circulating protein concentration, Respiratory distress, Tachycardia, Respiratory failur...	ORPHA:264675
Coenzyme Q10 Deficiency, Primary, 5	Cerebellar atrophy, Respiratory insufficiency, Bradycardia, Left ventricular hypertrophy, Hyperal...	OMIM:614654
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy	Facial hypotonia, Inability to walk, Astrocytosis, Difficulty walking, Slender build	OMIM:611087
Pseudohypoparathyroidism Type 2	Calcinosis, Prolonged QT interval, Pseudohypoparathyroidism, Hyperphosphatemia, Elevated circulat...	ORPHA:94090
Combined Oxidative Phosphorylation Deficiency 24	Cerebellar atrophy, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, ...	OMIM:616239
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in...	ORPHA:199306
Cardiomyopathy, Dilated, 1D	Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Incr...	OMIM:601494
Atrial Septal Defect 2	Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept...	OMIM:607941
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Hepatosplenomegaly, Pancytopenia, Thrombocytosis, Microcytic anemia	OMIM:604416
Neuraminidase Deficiency	Skeletal muscle atrophy, Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinu...	OMIM:256550
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu...	OMIM:619824
Carpenter Syndrome 1	Short neck, Micrognathia, Hypoplasia of the maxilla, High palate, Atrial septal defect, Spina bif...	OMIM:201000
Lowry-Maclean Syndrome	Hypospadias, Congenital diaphragmatic hernia, Delayed eruption of primary teeth, Bilateral crypto...	ORPHA:2409
Congenital Heart Defects, Multiple Types, 2	Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul...	OMIM:614980
Catel-Manzke Syndrome	Joint dislocation, Overriding aorta, Ventricular septal defect, Dextrocardia, Short neck, Microgn...	OMIM:616145
20Q13.33 Microdeletion Syndrome	Dilation of Virchow-Robin spaces, Hypospadias, Facial hypotonia, Small for gestational age, Failu...	ORPHA:261311
Atrial Septal Defect, Sinus Venosus Type	Automatic atrial tachycardia, First degree atrioventricular block, Right ventricular dilatation, ...	ORPHA:99105
Arterial Tortuosity Syndrome	Respiratory distress, Myocardial infarction, Prematurely aged appearance, Hiatus hernia, Pulmonar...	ORPHA:3342
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Respiratory distress, Facial palsy, Micrognathia, Respiratory insufficiency due to muscle weaknes...	OMIM:300580
8P23.1 Microdeletion Syndrome	Hypospadias, Congenital diaphragmatic hernia, Short neck, Micrognathia, Atrioventricular canal de...	ORPHA:251071
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Bicuspid aortic valve, Downturned corners of mouth, Coloboma, Oligodontia, High palate, Atrial se...	ORPHA:453499
Isolated Congenital Hypoglossia/Aglossia	Respiratory distress, Micrognathia, Dyspnea, Temporomandibular joint ankylosis, Upper airway obst...	ORPHA:141152
Congenital Toxoplasmosis	Hepatomegaly, Ascites, Lymphadenopathy, Cardiomegaly	ORPHA:858
Chronic Atrial And Intestinal Dysrhythmia	Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Bicuspid aortic valve, Left atria...	OMIM:616201
Orofaciodigital Syndrome Type 2	Apnea, Micrognathia, Central retinal vessel vascular tortuosity, Tachypnea, High palate, Atrioven...	ORPHA:2751
Bazex-Dupré-Christol Syndrome	Sparse scalp hair, Sparse eyebrow, Sparse or absent eyelashes, Coarse hair, Sparse hair, Pili tor...	ORPHA:113
Atrial Fibrillation, Familial, 9	Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Palpitations, Prolonged Q...	OMIM:613980
Lymphoproliferative Syndrome 1	Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Pericardial effusion, Spl...	OMIM:613011
Tuberous Sclerosis Complex	Respiratory distress, Pancreatic endocrine tumor, Renal cyst, Chorioretinal hypopigmentation, Phe...	ORPHA:805
Diamond-Blackfan Anemia	Radial artery aplasia, Pure red cell aplasia, Short neck, Micrognathia, Reticulocytopenia, Leukop...	ORPHA:124
Ritscher-Schinzel Syndrome 1	Dandy-Walker malformation, Hypospadias, Ventricular septal defect, Decreased response to growth h...	OMIM:220210
Recessive Mitochondrial Ataxia Syndrome	Increased serum pyruvate, ST segment elevation, Hashimoto thyroiditis	ORPHA:94125
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hypospadias, Ventricular septal defect, Small for gestational age, Short neck, Cardiomegaly, Micr...	OMIM:616897
Cerebrofaciothoracic Dysplasia	Short stature, Abnormal hair pattern, Short neck, Synophrys, Hemivertebrae, Low posterior hairlin...	ORPHA:1394
Femoral-Facial Syndrome	Thin upper lip vermilion, Ventricular septal defect, Truncus arteriosus, Maternal diabetes, Renal...	OMIM:134780
Tetrasomy 15Q26	Microretrognathia, Patent ductus arteriosus, Hypoplastic aortic arch, Horseshoe kidney, High pala...	OMIM:614846
Complete Atrioventricular Septal Defect	Crackles, Cardiomegaly, Tachypnea, Atrioventricular block, Primum atrial septal defect, Displacem...	ORPHA:1329
Congenital Disorder Of Glycosylation, Type Iil	Elevated circulating creatine kinase concentration, Inflammation of the large intestine, Atrial s...	OMIM:614576
Carnitine-Acylcarnitine Translocase Deficiency	Hepatomegaly, Dicarboxylic aciduria, Cyanosis, Sudden episodic apnea, Elevated circulating acylca...	ORPHA:159
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Hyperu...	OMIM:613092
Meconium Aspiration Syndrome	Respiratory distress, Abnormal pulmonary thoracic imaging finding, Maternal diabetes, Atelectasis...	ORPHA:70588
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Contracture of the proximal interphalangeal joint of the 2nd finger, Thenar muscle atrophy, Postn...	OMIM:612394
Galloway-Mowat Syndrome 9	Cerebellar atrophy, Coarse hair, Cerebral cortical atrophy, Choreoathetosis	OMIM:619603
Mucopolysaccharidosis, Type Iiib	Synophrys, Recurrent upper respiratory tract infections, Ovoid thoracolumbar vertebrae, Asymmetri...	OMIM:252920
Chromosome 1P36 Deletion Syndrome, Proximal	Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Micrognathia, C...	OMIM:619343
Tyrosinemia, Type I	Hypertyrosinemia, Gastrointestinal hemorrhage, Renal insufficiency, Hepatomegaly, Elevated circul...	OMIM:276700
Trisomy 13	High, narrow palate, Abnormal lung lobation, Abnormality of the fontanelles or cranial sutures, A...	ORPHA:3378
Muscular Dystrophy, Becker Type	Abnormal EKG, Calf muscle pseudohypertrophy, Elevated circulating creatine kinase concentration, ...	OMIM:300376
Pagod Syndrome	Encephalocele, Death in infancy, Multicystic kidney dysplasia, Sudden cardiac death, Spina bifida...	ORPHA:991
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Sick sinus syndrome, Patent foramen ovale, Bradycardia	OMIM:617182
Hsd10 Disease, Infantile Type	Cyanosis, Cardiomegaly, Retinal degeneration, Rod-cone dystrophy, Optic atrophy, Hyperammonemia, ...	ORPHA:391428
Tarp Syndrome	Extramedullary hematopoiesis, Apnea, Micrognathia, Glossoptosis, Atrial septal defect, Cryptorchi...	ORPHA:2886
Dk1-Cdg	Short stature, Progressive muscle weakness, Congestive heart failure, Dilated cardiomyopathy, Arr...	ORPHA:91131
Severe Generalized Junctional Epidermolysis Bullosa	Urethral stricture, Respiratory distress, Abnormal oral mucosa morphology, Abnormal blood ion con...	ORPHA:79404
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Respiratory distress, Cyanosis, Low-output congestive heart failure, Myopathy, Hypertrophic cardi...	ORPHA:91130
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia	Sick sinus syndrome, Bradycardia, Retinal degeneration	OMIM:617173
Tetanus	Respiratory distress, Tachycardia, Stiff neck, Elevated circulating creatine kinase concentration...	ORPHA:3299
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
8P23.1 Duplication Syndrome	Ventricular septal defect, Adrenal insufficiency, Thick vermilion border, Pulmonic stenosis, Long...	ORPHA:251076
Lymphoproliferative Syndrome, X-Linked, 1	Pancytopenia, Aplastic anemia, Splenomegaly, Lymphocytosis, Hemophagocytosis, Neutropenia, Thromb...	OMIM:308240
Congenital Sialidosis Type 2	Hypoplasia of the fovea, Abnormal EKG, Hepatomegaly, Abnormality of the kidney, Protruding tongue...	ORPHA:93400
Fadd-Related Immunodeficiency	Pulmonary artery atresia, Ventricular septal defect	ORPHA:306550
Oocyte/Zygote/Embryo Maturation Arrest 10	Miscarriage, Female infertility	OMIM:619176
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Cerebellar vermis hypoplasia, Elevated circulating creatine kinase concentration, Cardiomegaly, H...	ORPHA:228308
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Cyanosis, Type II pneumocyte hypertrophy, Desquamative interstitial pneumon...	OMIM:263000
Long Qt Syndrome 10	Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, T-wave alternans, Atrioventricu...	OMIM:611819
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Bicuspid aortic valve, Cardiomegaly, Descending thoracic aorta aneurysm, High, narrow palate, Abn...	ORPHA:91387
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Cardiome...	OMIM:255120
Loeffler Endocarditis	Abnormal cardiomyocyte morphology, Endocardial fibrosis, Cough, Abnormal morphology of the chorda...	ORPHA:75566
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Papilledema, Ventricular septal defect, Elevated circulating creati...	OMIM:618775
Hair Defect With Photosensitivity And Mental Retardation	Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair	OMIM:234030
Intellectual Developmental Disorder, Autosomal Dominant 34	Curly hair, Broad-based gait, Coarse hair, Synophrys	OMIM:616351
Mitochondrial Complex I Deficiency, Nuclear Type 36	Limb hypertonia, Perimembranous ventricular septal defect, Cardiomegaly	OMIM:619170
Long Qt Syndrome 11	Syncope, Prolonged QTc interval	OMIM:611820
Combined Oxidative Phosphorylation Deficiency 2	Redundant neck skin, Small for gestational age, Patent ductus arteriosus, Neonatal death, Lethargy	OMIM:610498
Hao-Fountain Syndrome	Cryptorchidism, Large fontanelles, Premature adrenarche, Micropenis, Delayed cranial suture closure	OMIM:616863
Mucus Inspissation Of Respiratory Tract	Recurrent respiratory infections, Atelectasis, Bronchiectasis	OMIM:253240
Amyotrophic Lateral Sclerosis, Susceptibility To, 25	Amyotrophic lateral sclerosis	OMIM:617921
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome	Cerebellar atrophy, Short stature, Absent pubertal growth spurt, Congenital diaphragmatic hernia,...	ORPHA:438134
Fontaine Progeroid Syndrome	Mandibular prognathia, Cerebellar vermis hypoplasia, Bicuspid aortic valve, Micrognathia, Hypopla...	OMIM:612289
Holoprosencephaly 9	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Abnormal co...	OMIM:610829
Supranuclear Palsy, Progressive, 1	Eyelid apraxia, Limb dystonia, Axial dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Cerebral...	OMIM:601104
Gaucher Disease, Type Iii	Splenomegaly, Pancytopenia, Thrombocytopenia	OMIM:231000
Combined Oxidative Phosphorylation Deficiency 29	Cerebellar atrophy, Optic neuropathy, Axonal degeneration, Optic atrophy, Dystonia, Spasticity, G...	OMIM:616811
Elsahy-Waters Syndrome	Mandibular prognathia, Bilateral cryptorchidism, Hypoplasia of the maxilla, Anteriorly placed anu...	OMIM:211380
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Hepatomegaly, Dilated cardiomyopathy, Left ventricular noncompaction, Neonatal death, Left ventri...	OMIM:619167
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P...	OMIM:310468
Avian Influenza	Respiratory distress, Elevated circulating creatine kinase concentration, Elevated circulating C-...	ORPHA:454836
Tbck-Related Intellectual Disability Syndrome	Skeletal muscle atrophy, Thick eyebrow, Diastasis recti, Short neck, Inability to walk, Progressi...	ORPHA:488632
Cutis Laxa, Autosomal Recessive, Type Iia	Brittle hair, Abnormality of hair texture, Coarse hair, Scoliosis, Intrauterine growth retardatio...	OMIM:219200
Relapsing Polychondritis	Abnormal endocardium morphology, Glomerulopathy, Pericarditis, Renal insufficiency, Proteinuria, ...	ORPHA:728
Glycogen Storage Disease Ia	Abnormal bleeding, Hepatomegaly, Decreased muscle mass, Proteinuria, Hyperlipidemia, Lipemia reti...	OMIM:232200
Glycine Encephalopathy 1	Death in infancy, Hyperglycinuria, Hyperglycinemia, Lethargy	OMIM:605899
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Thin upper lip vermilion, Tricuspid regurgitation, Dextrocardia, Supernumerary nipple, Periventri...	OMIM:618929
Methylcobalamin Deficiency Type Cble	Hypomethioninemia, Macrocytic anemia, Pancytopenia, Glomerulopathy, Hemolytic-uremic syndrome, Hy...	ORPHA:2169
Scrub Typhus	Abnormal bleeding, Renal insufficiency, Splenomegaly, Myocarditis, Dyspnea, Lymphadenopathy, Rest...	ORPHA:83317
Macular Degeneration, Age-Related, 1	Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg...	OMIM:603075
Fetal Gaucher Disease	Pancytopenia, Abnormality of the spleen, Splenomegaly, Stillbirth, Neonatal death, Thrombocytopenia	ORPHA:85212
Brugada Syndrome 7	Atrial flutter, Paroxysmal atrial fibrillation, ST segment elevation, Permanent atrial fibrillati...	OMIM:613120
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Recurrent respiratory infections, Atelectasis, Bronchiectasis	OMIM:619466
Carnitine Palmitoyl Transferase 1A Deficiency	Skeletal muscle atrophy, Hepatomegaly, Sudden cardiac death, Renal tubular acidosis, Arrhythmia, ...	ORPHA:156
Mandibuloacral Dysplasia Progeroid Syndrome	Micrognathia, Flexion contracture, High palate, Short philtrum, Death in childhood, Patent forame...	OMIM:619127
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Acute l...	ORPHA:158057
Neurodegeneration With Brain Iron Accumulation 5	Cerebellar atrophy, Dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Cerebral atrophy, Bradyki...	OMIM:300894
Dihydrolipoamide Dehydrogenase Deficiency	Increased serum pyruvate, Hepatomegaly, Death in childhood, Lethargy, Hypertrophic cardiomyopathy	OMIM:246900
Recurrent Respiratory Papillomatosis	Respiratory distress, Atelectasis, Abnormal lung morphology, Recurrent pneumonia, Recurrent upper...	ORPHA:60032
Neuropathy, Hereditary, With Liability To Pressure Palsies	Decreased motor nerve conduction velocity, Hand muscle weakness, Segmental peripheral demyelinati...	OMIM:162500
Infant Acute Respiratory Distress Syndrome	Tachycardia, Cyanosis, Pneumonia, Cardiac arrest, Respiratory tract infection, Atelectasis, Nasal...	ORPHA:70587
Idiopathic Aplastic Anemia	Pancytopenia, Epistaxis, Thrombocytopenia, Retinal hemorrhage, Reticulocytopenia, Bone marrow hyp...	ORPHA:88
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Death in infancy, Hepatomegaly, Hypospadias, Abnormal pulmonary valve morphology, Camptodactyly o...	ORPHA:1194
Glycogen Storage Disease Ib	Hepatomegaly, Proteinuria, Pancreatic fibrosis, Splenomegaly, Hyperlipidemia, Lipemia retinalis, ...	OMIM:232220
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Elevated circulating C-reactive protein concentration, Nonproductive cough,...	ORPHA:36238
Glycogen Storage Disease Ii	Wolff-Parkinson-White syndrome, Right axis deviation, Increased circulating NT-proBNP concentrati...	OMIM:232300
Pomt2-Related Limb-Girdle Muscular Dystrophy R14	Scapular winging, Elevated circulating creatine kinase concentration, Reduced muscle fiber alpha ...	ORPHA:206559
Congenital Heart Defects, Multiple Types, 3	Tachycardia, Atrial fibrillation, Atrioventricular block, Abnormal heart morphology, Right bundle...	OMIM:614954
Marie Unna Hereditary Hypotrichosis	Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e...	ORPHA:444
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Joint dislocation, Recurrent respiratory infections, Recurrent urinary tract infections, Hepatome...	OMIM:620210
Developmental Delay With Or Without Dysmorphic Facies And Autism	Cerebellar vermis hypoplasia, Congenital diaphragmatic hernia, Micrognathia, Renal cyst, Short ph...	OMIM:618454
Aorto-Ventricular Tunnel	Ventricular hypertrophy, Abnormal coronary artery morphology, Abnormal heart valve morphology, Ao...	ORPHA:3400
14Q11.2 Microdeletion Syndrome	Patent ductus arteriosus, Ventricular septal defect	ORPHA:261120
Multiple Acyl-Coa Dehydrogenase Deficiency	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Glutaric aciduria, 3...	ORPHA:26791
Dyskeratosis Congenita, Autosomal Dominant 6	Pancytopenia, Aplastic anemia, Bone marrow hypocellularity	OMIM:616553
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Glycos...	OMIM:308990
Cutis Laxa, Autosomal Recessive, Type Iid	Reduced subcutaneous adipose tissue, Failure to thrive, Hypoplastic right heart, Bilateral crypto...	OMIM:617403
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Atelectasis, Recurrent bronchitis	OMIM:300455
Prune Belly Syndrome	Congenital hip dislocation, Atrial septal defect, Vesicoureteral reflux, Multicystic kidney dyspl...	ORPHA:2970
Neurodegeneration Due To Cerebral Folate Transport Deficiency	Neurodegeneration	OMIM:613068
Hypotrichosis 8	Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,...	OMIM:278150
De Barsy Syndrome	Decreased muscle mass, Congenital hip dislocation, Cerebellar vermis hypoplasia, Prominent veins ...	ORPHA:2962
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Everted upper lip vermilion, Failure to thrive, Ventricular septal defect, Micrognathia, Abnormal...	ORPHA:513456
Frasier Syndrome	Glomerulopathy, Renal insufficiency, Streak ovary, Proteinuria, Hypergonadotropic hypogonadism, I...	ORPHA:347
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Decreased number of peripheral myelinated nerve fibers, Skeletal muscle atrophy, Pain insensitivi...	OMIM:256810
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Renal dysplasia, Recurrent respiratory infections, Respiratory distress, Abnormality of thyroid p...	OMIM:300968
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Ectopic kidney, Rectal prolapse, Conical incisor, Oligodontia, Hypoalbuminemia, Protein-losing en...	OMIM:235510
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Death in infancy, Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Wide anterior fontane...	OMIM:619064
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Respiratory distress, Large posterior fontanelle, Large for gestational age, Elevated circulating...	ORPHA:226313
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy	Arrhythmia, Sudden cardiac death	OMIM:212500
Li-Campeau Syndrome	Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Atrial septal defect, Patent...	OMIM:619189
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4	T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr...	OMIM:602087
Brain-Lung-Thyroid Syndrome	Thyroid dysgenesis, Respiratory distress, Elevated circulating thyroid-stimulating hormone concen...	ORPHA:209905
Senior-Loken Syndrome 8	Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Retinal dystrophy, M...	OMIM:616307
Ventricular Septal Defect 1	Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect...	OMIM:614429
Cardiomyopathy, Familial Hypertrophic, 4	Respiratory distress, First degree atrioventricular block, Cardiomegaly, Right atrial enlargement...	OMIM:115197
Lymphatic Malformation 8	Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge...	OMIM:618773
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Splenomegaly, Anemia, Reduced natural killer cell count, Thrombocytopenia	OMIM:616050
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Recurrent respiratory infections, Atrial septal defect, Thin upper lip vermilion, Hypospadias, Ve...	OMIM:618316
Isotretinoin-Like Syndrome	Bicuspid aortic valve, Micrognathia, Patent ductus arteriosus, Abnormal cardiac ventricle morphol...	ORPHA:2306
Oligodontia	Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ...	ORPHA:99798
Thiamine-Responsive Megaloblastic Anemia Syndrome	Cone/cone-rod dystrophy, Sideroblastic anemia, Diabetes mellitus, Ventricular septal defect, Situ...	OMIM:249270
Car T Cell Therapy-Associated Cytokine Release Syndrome	Tachycardia, Heart block, Tachypnea, Elevated circulating creatinine concentration, Capillary lea...	ORPHA:542323
Autosomal Recessive Robinow Syndrome	Hypoplasia of penis, Tented upper lip vermilion, Short neck, Micrognathia, Orofacial cleft, Downt...	ORPHA:1507
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency	Angina pectoris, Hypertriglyceridemia, Increased HDL cholesterol concentration, Premature coronar...	ORPHA:140905
Myopathy, X-Linked, With Postural Muscle Atrophy	Skeletal muscle atrophy, Scapular winging, Elevated circulating creatine kinase concentration, Sh...	OMIM:300696
Marburg Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Nonproductive cough, Leukopenia, Hypoalbumine...	ORPHA:99826
Hyperinsulinism Due To Hnf1A Deficiency	Hepatomegaly, Tachycardia, Small for gestational age, Maternal diabetes, Maturity-onset diabetes ...	ORPHA:324575
Leishmaniasis	Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Anemia, Leukopenia, Thrombocytopenia	ORPHA:507
Microphthalmia, Syndromic 2	Flexion contracture, Oligodontia, Fused teeth, Atrial septal defect, Contracture of the proximal ...	OMIM:300166
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Ileal atresia, Hypoplasia of the thymus, Death in childhood, Death in infancy, Leukocytosis, Hema...	OMIM:243150
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Bicuspid aortic valve, Intestinal pseudo-obstruction, High, narrow palate, Downturned corners of ...	ORPHA:453504
Hereditary Neuropathy With Liability To Pressure Palsies	Decreased motor nerve conduction velocity, Vocal cord paralysis, Paresthesia, Scoliosis	ORPHA:640
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Bicuspid aortic valve, Intestinal pseudo-obstruction, High, narrow palate, Downturned corners of ...	ORPHA:352665
Gaucher Disease Type 2	Respiratory distress, Recurrent respiratory infections, Hepatomegaly, Cardiac arrest, Splenomegal...	ORPHA:77260
Paroxysmal Extreme Pain Disorder	Tachycardia, Flushing, Bradycardia, Mandibular pain, Rhinorrhea	OMIM:167400
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Respiratory distress, Hepatomegaly, Renal insufficiency, Thrombocytopenia, Optic atrophy, Hyperam...	ORPHA:289916
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Lethargy, Aminoaciduria, Tetralogy of Fallot, Failure to thrive	OMIM:250620
Cholera	Hyponatremia, Tachycardia, Abnormality of renal excretion, Miscarriage, Tachypnea, Abnormal blood...	ORPHA:173
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome	Branchial cyst, Cryptorchidism, Pulmonary artery stenosis	ORPHA:435938
Cerebrooculofacioskeletal Syndrome 1	Cerebellar atrophy, Diffuse cerebral atrophy, Failure to thrive, Small for gestational age, Kypho...	OMIM:214150
Attrv30M Amyloidosis	Cardiomegaly, Vitreous floaters, Atrioventricular block, Weight loss, Cardiomyopathy, Nephropathy...	ORPHA:85447
Aminoacylase 1 Deficiency	Cerebellar atrophy, Bradycardia	OMIM:609924
Scleromyxedema	Transient ischemic attack, Elevated circulating creatine kinase concentration, Abnormal coronary ...	ORPHA:167635
Carnitine Palmitoyltransferase Ii Deficiency	Cerebellar vermis hypoplasia, Elevated circulating creatine kinase concentration, Red-brown urine...	ORPHA:157
Combined Oxidative Phosphorylation Deficiency 34	Pancytopenia	OMIM:617872
Supravalvular Aortic Stenosis	Arrhythmia, Supravalvular aortic stenosis	ORPHA:3193
Fg Syndrome Type 1	Dental crowding, Micrognathia, Fused teeth, High palate, Atrial septal defect, Hypospadias, Malro...	ORPHA:93932
Cardiomyopathy, Familial Hypertrophic, 26	Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per...	OMIM:617047
Perching Syndrome	Respiratory distress, Cyanosis, High palate, Camptodactyly, Joint contracture, Rod-cone dystrophy	OMIM:617055
Primary Angiitis Of The Central Nervous System	Cerebral vasculitis, Ataxia, Parkinsonism, Transient ischemic attack, Paralysis, Paraparesis, Hem...	ORPHA:140989
Congenital Myopathy 10A, Severe Variant	Respiratory distress, Facial palsy, Elevated circulating creatine kinase concentration, Camptodac...	OMIM:614399
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes	Abnormal EKG, Diabetes mellitus, Optic atrophy, Cardiomyopathy, Lower limb hypertonia, Generalize...	ORPHA:1177
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2	Distal muscle weakness, Paresis of extensor muscles of the big toe, Distal lower limb muscle weak...	OMIM:158590
Mitochondrial Trifunctional Protein Deficiency	Hypoparathyroidism, Tricuspid regurgitation, Failure to thrive in infancy, Congestive heart failu...	ORPHA:746
Symptomatic Form Of Hfe-Related Hemochromatosis	Arthropathy, Decreased muscle mass, Cardiomegaly, Lethargy, Hypothyroidism, Hepatomegaly, Hypogon...	ORPHA:465508
Renal Hypoplasia, Bilateral	Hyponatremia, Failure to thrive, Neonatal respiratory distress, Proteinuria, Small for gestationa...	ORPHA:97362
Combined Oxidative Phosphorylation Defect Type 29	Optic neuropathy, Axonal degeneration, Poor coordination, Neurodegeneration, Abnormal autonomic n...	ORPHA:478029
Mitochondrial Complex I Deficiency, Nuclear Type 1	3-hydroxydicarboxylic aciduria, Skeletal muscle atrophy, Apnea, Ragged-red muscle fibers, Tongue ...	OMIM:252010
Arterial Calcification, Generalized, Of Infancy, 2	Tricuspid regurgitation, Myocardial infarction, Coronary artery calcification, Cardiomegaly, Cong...	OMIM:614473
3-Hydroxy-3-Methylglutaric Aciduria	Hepatomegaly, Ketonuria, Apnea, Cardiac arrest, Leukocytosis, Dilated cardiomyopathy, Jaundice, T...	ORPHA:20
Progressive Non-Fluent Aphasia	Abnormal lower motor neuron morphology, Parkinsonism, Temporal cortical atrophy, Astrocytosis, Fr...	ORPHA:100070
Developmental And Epileptic Encephalopathy 41	Nephrocalcinosis, Lethargy, Flexion contracture, Delayed eruption of teeth	OMIM:617105
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Respiratory distress, Hepatomegaly, Acute hyperammonemia, Hyperglutaminemia, Hyperammonemia, Cere...	ORPHA:927
Mosaic Trisomy 1	Cerebellar vermis hypoplasia, Congenital diaphragmatic hernia, Renal cyst, Orofacial cleft, Pulmo...	ORPHA:1692
Brugada Syndrome 8	Right bundle branch block, ST segment elevation, Ventricular tachycardia	OMIM:613123
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Death in infancy, Apnea, Micrognathia, Optic atrophy, Bradycardia, Joint contracture, Limb hypert...	OMIM:614498
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Caudate atrophy, Babinski sign, Cerebral atrophy, Axonal loss, Inappropriate behavior, Gliosis, G...	OMIM:221770
Pseudo-Torch Syndrome 3	Death in infancy, Proteinuria, Apnea, Cerebral hemorrhage, Cardiomegaly, Increased circulating fe...	OMIM:618886
Williams-Beuren Syndrome	Bicuspid aortic valve, Rectal prolapse, Flexion contracture, Nephrocalcinosis, Early onset of sex...	OMIM:194050
Orofaciodigital Syndrome I	Lobulated tongue, High palate, Microretrognathia, Hamartoma of tongue, Cleft upper lip, Myelomeni...	OMIM:311200
Dopamine Beta-Hydroxylase Deficiency	Abnormal EKG, Orthostatic hypotension, Dyspnea, Elevated urinary dopamine level, Elevated circula...	ORPHA:230
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Dystonia, Portal hypertension, Action tremor, Rigidity, Truncal ataxia, Astrocytosis, Bradykinesi...	ORPHA:309854
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Abnormal bone marrow cell morphology, Reticulocytopenia, Bone...	ORPHA:101096
Bloom Syndrome	Small for gestational age, Elevated hemoglobin A1c, Cryptorchidism, Recurrent upper respiratory t...	OMIM:210900
Congenital Disorder Of Glycosylation, Type Iy	Joint dislocation, Respiratory distress, Hypospadias, Micrognathia, Wide mouth, Widely spaced tee...	OMIM:300934
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Cerebellar atrophy, Decreased mitochondrial number, Hypergonadotropic hypogonadism, Elevated circ...	ORPHA:352447
Epilepsy, Idiopathic Generalized, Susceptibility To, 18	Bradycardia	OMIM:619521
Poliomyelitis	Skeletal muscle atrophy, Bulbar palsy, Hypoplasia of the musculature, Abnormal motor nerve conduc...	ORPHA:2912
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory distress, Hepatomegaly, Respiratory failure requiring assisted ventilation, Facial hy...	ORPHA:308552
Congenital Tracheal Stenosis	Respiratory distress, Ascending aorta hypoplasia, Abnormal lung morphology, Abnormal lung lobatio...	ORPHA:141127
Bazex-Dupre-Christol Syndrome	Coarse hair, Sparse hair, Trichoepithelioma, Pili torti, Trichorrhexis nodosa	OMIM:301845
Atrial Fibrillation, Familial, 3	Paroxysmal atrial fibrillation, Atrial fibrillation, Sudden cardiac death, Permanent atrial fibri...	OMIM:607554
Nathalie Syndrome	Arrhythmia	ORPHA:2663
Lymphoproliferative Syndrome 2	Pancytopenia, Aplastic anemia, Splenomegaly, Hepatosplenomegaly, Hemophagocytosis	OMIM:615122
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Diabetes mellitus, Hypospadias, Bicuspid aortic valve, Ventricular septal defect, Cryptorchidism,...	ORPHA:500159
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Absent gallbladder, Overriding aorta, Median cleft lip, Renal hypoplasia/aplasia, Abnormality of ...	ORPHA:3186
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Crossed fused renal ectopia, Hypoplastic right heart, Ventricular septal defect, Unilateral renal...	OMIM:618142
Indomethacin Embryofetopathy	Renal insufficiency, Multicystic kidney dysplasia, Ventricular septal defect, Respiratory insuffi...	ORPHA:1909
Autoinflammatory-Pancytopenia Syndrome	Pancytopenia, Hemophagocytosis, Hepatosplenomegaly	OMIM:619858
Trichohepatoneurodevelopmental Syndrome	Curly hair, Synophrys, Cerebral atrophy, Macroglossia, Coarse hair, Distal arthrogryposis, Long e...	OMIM:618268
3-Methylglutaconic Aciduria, Type Viii	Death in infancy, Apnea, Patent ductus arteriosus, Jaundice, Hypopnea, 3-Methylglutaric aciduria,...	OMIM:617248
Brugada Syndrome 6	ST segment elevation, Ventricular fibrillation, Cardiac arrest	OMIM:613119
Tetrasomy 9P	Joint dislocation, Myositis, Dental crowding, Short neck, Micrognathia, Downturned corners of mou...	ORPHA:3310
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Apnea, Dysplastic testes, Cryptorchidism, Testicular dysgenesis, Cardiorespiratory arrest, Strido...	OMIM:608800
Chromosome 15Q25 Deletion Syndrome	Macrocytic anemia, Tented upper lip vermilion, Ventricular septal defect, Dextrocardia, Congenita...	OMIM:614294
Fundus Dystrophy, Pseudoinflammatory, Recessive Form	Central retinal exudate, Peripheral retinal degeneration, Retinal hemorrhage	OMIM:264420
X-Linked Emery-Dreifuss Muscular Dystrophy	Back pain, Short neck, Vocal cord paralysis, Atrioventricular block, Decreased cervical spine fle...	ORPHA:98863
Vitamin B12-Responsive Methylmalonic Acidemia	Hepatomegaly, Renal insufficiency, Hyperammonemia, Respiratory insufficiency, Lethargy, Failure t...	ORPHA:28
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Ventricular septal defect, Craniosynostosis, Micrognathia, Abnormality of the endocrine system, C...	ORPHA:166035
Ciliary Dyskinesia, Primary, 33	Atelectasis, Recurrent pneumonia, Bronchiectasis, Recurrent lower respiratory tract infections, R...	OMIM:616726
Symmetrical Thalamic Calcifications	Arrhythmia, Failure to thrive, Abnormality of neuronal migration, Respiratory insufficiency	ORPHA:1314
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric...	OMIM:614021
Noonan Syndrome 8	Left ventricular hypertrophy, Ventricular septal defect, Large for gestational age, Short neck, C...	OMIM:615355
Autosomal Dominant Hyper-Ige Syndrome	Delayed eruption of teeth, Recurrent respiratory infections, Eosinophilia, Craniosynostosis, Abno...	ORPHA:2314
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Thin upper lip vermilion, Hepatomegaly, Proteinuria, Glomerulonephritis, Supernumerary nipple, El...	OMIM:614376
Periventricular Nodular Heterotopia	Aortic regurgitation, Abnormal bleeding, Abnormal heart valve morphology, Periventricular heterot...	ORPHA:98892
Ciliary Dyskinesia, Primary, 21	Atelectasis, Recurrent pneumonia, Bronchiectasis	OMIM:615294
Cardiomyopathy, Dilated, 1U	Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ...	OMIM:613694
Paraparetic Variant Of Guillain-Barré Syndrome	Peripheral axonal neuropathy, Impaired distal proprioception, Paraparesis, Recurrent acute respir...	ORPHA:231445
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Minimal change glomerulonephritis, Pulmonary embolism, Respiratory tract infection, Hyperlipidemi...	ORPHA:567546
Multiple Mitochondrial Dysfunctions Syndrome 1	Increased urine alpha-ketoglutarate concentration, Death in infancy, Failure to thrive, Alpha-ami...	OMIM:605711
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Respiratory distress, Hepatomegaly, Hyperphosphaturia, Proteinuria, Respiratory insufficiency due...	OMIM:220110
Incessant Infant Ventricular Tachycardia	Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge...	ORPHA:45453
Neurodegeneration And Seizures Due To Copper Transport Defect	Thickened nuchal skin fold, Cerebellar atrophy, Respiratory distress, Tricuspid regurgitation, Ca...	OMIM:620306
Atrial Fibrillation, Familial, 10	Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Left atrial enlargement,...	OMIM:614022
Neurooculocardiogenitourinary Syndrome	Redundant neck skin, Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Bilateral ...	OMIM:618652
Fetal Hydantoin Syndrome	Short stature, Cryptorchidism, Low posterior hairline, Coarse hair, Intrauterine growth retardati...	ORPHA:1912
Kaposiform Lymphangiomatosis	Epidural hemorrhage, Abnormal lung morphology, Abnormality of the neck, Cough, Ecchymosis, Abnorm...	ORPHA:464329
Cardiomyopathy, Familial Hypertrophic, 2	Atrial fibrillation, Angina pectoris, Dyspnea, Ventricular septal hypertrophy, Right bundle branc...	OMIM:115195
Retinopathy Of Prematurity	Tractional retinal detachment, Small for gestational age, Retinal arteriolar tortuosity, Abnormal...	ORPHA:90050
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Ventricular hypertrophy, Bicuspid aortic valve, Ventricular septal defect, Celiac disease, Patent...	ORPHA:284169
Mulibrey Nanism	Hepatomegaly, Dental crowding, Nephroblastoma, Cardiomegaly, Absent frontal sinuses, Congestive h...	OMIM:253250
Cardiomyopathy, Dilated, 1Bb	Increased left ventricular end-diastolic volume, Congestive heart failure, Dyspnea, Dilated cardi...	OMIM:612877
Emery-Dreifuss Muscular Dystrophy	Back pain, Vocal cord paralysis, Atrioventricular block, Decreased cervical spine flexion due to ...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Back pain, Vocal cord paralysis, Atrioventricular block, Decreased cervical spine flexion due to ...	ORPHA:98853
Snakebite Envenomation	Myocardial infarction, Intracranial hemorrhage, Muscle fiber necrosis, Respiratory paralysis, Ecc...	ORPHA:449285
Oocyte/Zygote/Embryo Maturation Arrest 9	Oocyte arrest at metaphase I, Female infertility	OMIM:619011
Congenital Alveolar Capillary Dysplasia	Respiratory distress, Bicuspid aortic valve, Asplenia, Atrial septal defect, Atrioventricular can...	ORPHA:210122
Opitz Gbbb Syndrome	Congenital diaphragmatic hernia, Micrognathia, High palate, Atrial septal defect, Vesicoureteral ...	ORPHA:2745
Eales Disease	Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Tran...	ORPHA:40923
Lethal Osteosclerotic Bone Dysplasia	Respiratory distress, Micrognathia, Short neck, Dyspnea, Large fontanelles, Gingival fibromatosis...	ORPHA:1832
Long Qt Syndrome 2	Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong...	OMIM:613688
Nathalie Syndrome	Abnormal EKG, Skeletal muscle atrophy	OMIM:255990
Nephrotic Syndrome, Type 6	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g...	OMIM:614196
Focal Cortical Dysplasia, Type Ii	Hemiparesis, Astrocytosis	OMIM:607341
Lysinuric Protein Intolerance	Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, T...	ORPHA:470
Sick Sinus Syndrome 2	Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden...	OMIM:163800
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy	Decreased motor nerve conduction velocity, Optic disc pallor, Vocal cord paresis, Distal muscle w...	OMIM:601152
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Pancytopenia, Lymphopenia, Bone marrow hypocellularity, Abnormally low T cell receptor excision c...	OMIM:619767
Cerebroretinal Microangiopathy With Calcifications And Cysts 2	Pancytopenia, Bone marrow hypocellularity, Abnormally low T cell receptor excision circle level	OMIM:617341
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Atrial septal defect, Micropenis, Thick upper lip vermilion, Hypospadias, Abnormality of the kidn...	ORPHA:363444
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Varicose veins, Patent ductus arteriosus, Peripheral arterial stenosis, Ventricular septal defect	OMIM:126320
Idiopathic Chronic Eosinophilic Pneumonia	Abnormal pulmonary thoracic imaging finding, Elevated circulating C-reactive protein concentratio...	ORPHA:2902
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly	OMIM:300886
Proximal Spinal Muscular Atrophy	Skeletal muscle atrophy, Multiple joint contractures, Recurrent infections due to aspiration, Qua...	ORPHA:70
Baraitser-Winter Syndrome 1	Thin upper lip vermilion, Failure to thrive, Bicuspid aortic valve, Short neck, Cleft upper lip, ...	OMIM:243310
Noonan Syndrome 9	Ventricular septal defect, Short neck, Cryptorchidism, Coarctation of aorta, Pulmonic stenosis, W...	OMIM:616559
Brugada Syndrome 5	ST segment elevation, Bundle branch block, Ventricular fibrillation	OMIM:612838
Global Developmental Delay With Or Without Impaired Intellectual Development	Thin upper lip vermilion, Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Oligo...	OMIM:618330
Hennekam Syndrome	Abnormal oral mucosa morphology, Ectopic kidney, Short philtrum, Hypocalcemia, Pachygyria, Abnorm...	ORPHA:2136
Trisomy 17P	Skeletal muscle atrophy, Hypoplasia of penis, Short neck, Micrognathia, Flexion contracture, Orof...	ORPHA:261290
Phaver Syndrome	Ventricular septal defect, Myelomeningocele, Hypoplastic aortic arch, Coarctation of aorta, Pulmo...	ORPHA:2876
Histiocytosis-Lymphadenopathy Plus Syndrome	Decreased response to growth hormone stimulation test, Cardiomegaly, Joint contracture of the 5th...	OMIM:602782
Multiple Sulfatase Deficiency	Short stature, Optic atrophy, Coarse hair, Abnormality of peripheral nerve conduction, Thick eyebrow	ORPHA:585
Esophageal Atresia	Respiratory distress, Bronchitis, Maternal diabetes, Coloboma, Aspiration, Barrett esophagus, Cle...	ORPHA:1199
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Skeletal muscle atrophy, Short stature, Dysmenorrhea, Postnatal growth retardation, Limb-girdle m...	ORPHA:79240
Lissencephaly, X-Linked, 1	Death in infancy, Gray matter heterotopia, Lissencephaly, Micropenis, Pachygyria, Agyria	OMIM:300067
Cutis Laxa, Autosomal Recessive, Type Iic	Mandibular prognathia, Dental crowding, Bilateral cryptorchidism, Hypoplasia of the maxilla, Knee...	OMIM:617402
Vici Syndrome	Cerebellar vermis hypoplasia, Elevated circulating creatine kinase concentration, Micrognathia, L...	OMIM:242840
Mgat2-Cdg	Impaired lymphocyte transformation with phytohemagglutinin, Abnormal bleeding, Respiratory distre...	ORPHA:79329
Adrenoleukodystrophy	Bulbar palsy, Incoordination, Alopecia, Paraparesis, Spastic paraplegia, Slurred speech, Limb ata...	OMIM:300100
Joubert Syndrome 14	Encephalocele, Tented upper lip vermilion, Ventricular septal defect, Cerebellar vermis hypoplasi...	OMIM:614424
Interstitial Nephritis, Karyomegalic	Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k...	OMIM:614817
Hajdu-Cheney Syndrome	Recurrent respiratory infections, Short stature, Abnormal fingernail morphology, Mitral stenosis,...	ORPHA:955
Maternal Hyperthermia-Induced Birth Defects	Hypoplasia of penis, Abnormality of neuronal migration, Cleft palate	ORPHA:2216
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6	Bradykinesia, Lethargy, Hypertrophic cardiomyopathy, Death in childhood	OMIM:618683
Papillorenal Syndrome	Renal cyst, Chiari type I malformation, Macular degeneration, Vesicoureteral reflux, Multicystic ...	OMIM:120330
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3	T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr...	OMIM:602086
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Lymphopenia, Hypoplasia of the thymus, Death in childhood	OMIM:200900
Craniofacial Microsomia 1	Occipital encephalocele, Ectopic kidney, Hypoplasia of the maxilla, Micrognathia, Vesicoureteral ...	OMIM:164210
Witkop Syndrome	Ridged nail, Concave nail, Nail pits, Fine hair, Small nail, Sparse hair	OMIM:189500
Pontocerebellar Hypoplasia, Type 6	Cerebellar atrophy, Cerebellar vermis hypoplasia, Apnea, Elbow contracture, Atrophy/Degeneration ...	OMIM:611523
Hardikar Syndrome	Atrial septal defect, Vesicoureteral reflux, Patent foramen ovale, Bladder exstrophy, Hepatomegal...	OMIM:301068
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Prominent metopic ridge, Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of cani...	ORPHA:364577
Long Qt Syndrome 15	Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard...	OMIM:616249
Scapuloperoneal Myopathy, X-Linked Dominant	Skeletal muscle atrophy, Scapular winging, Elevated circulating creatine kinase concentration, Ac...	OMIM:300695
Arterial Calcification, Generalized, Of Infancy, 1	Neonatal respiratory distress, Myocardial infarction, Coronary artery calcification, Cardiomegaly...	OMIM:208000
Acrofacial Dysostosis, Catania Type	Short stature, Abnormal hair pattern, Cryptorchidism, Coarse hair, Intrauterine growth retardatio...	ORPHA:1786
Smith-Lemli-Opitz Syndrome	Dental crowding, Micrognathia, Abnormal lung lobation, Renal cyst, Chiari type I malformation, Hy...	OMIM:270400
Pallister-Hall Syndrome	Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st...	OMIM:146510
Malaria	Respiratory distress, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Hy...	ORPHA:673
Hjv Or Hamp-Related Hemochromatosis	Arthropathy, Diabetes mellitus, Increased circulating ferritin concentration, Elevated transferri...	ORPHA:79230
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11	Right ventricular cardiomyopathy, Sudden cardiac death, Syncope, Palpitations, Woolly hair, Ventr...	OMIM:610476
7Q11.23 Microduplication Syndrome	Short lingual frenulum, Congenital diaphragmatic hernia, Short neck, Micrognathia, Simplified gyr...	ORPHA:96121
Schwartz-Jampel Syndrome	Skeletal muscle atrophy, Myotonia, Apnea, Elevated circulating creatine kinase concentration, Sho...	ORPHA:800
Congenital Pulmonary Lymphangiectasia	Respiratory distress, Hepatomegaly, Tricuspid regurgitation, Cyanosis, Congestive heart failure, ...	ORPHA:2414
Cardiac Valvular Dysplasia 1	Arteria lusoria, Atrial septal defect, Pulmonary artery atresia, Patent foramen ovale, Tricuspid ...	OMIM:212093
Venous Malformations, Multiple Cutaneous And Mucosal	Intestinal bleeding, Venous malformation	OMIM:600195
Sifrim-Hitz-Weiss Syndrome	Atrial septal defect, Renal insufficiency, Wormian bones, Ventricular septal defect, Hypogonadotr...	OMIM:617159
Mohr Syndrome	Median cleft lip, Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Cleft palate,...	OMIM:252100
Machado-Joseph Disease Type 1	Cerebellar atrophy, Skeletal muscle atrophy, Distal lower limb amyotrophy, Substantia nigra glios...	ORPHA:276238
Machado-Joseph Disease Type 2	Cerebellar atrophy, Skeletal muscle atrophy, Distal lower limb amyotrophy, Substantia nigra glios...	ORPHA:276241
Neuroleptic Malignant Syndrome	Elevated circulating creatine kinase concentration, Urinary incontinence, Pulmonary embolism, Hyp...	ORPHA:94093
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Respiratory distress, Elevated circulating creatine kinase concentration, Centrally nucleated ske...	ORPHA:86812
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Skeletal muscle atrophy, Short stature, Dysmenorrhea, Increased sarcoplasmic glycogen, Progressiv...	ORPHA:264580
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory distress, Death in infancy, Hepatomegaly, Dilated cardiomyopathy, Optic atrophy, Tach...	OMIM:614299
Maternal Uniparental Disomy Of Chromosome 1	Pancytopenia	ORPHA:251009
Long Qt Syndrome 6	Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong...	OMIM:613693
Intellectual Developmental Disorder, Autosomal Dominant 48	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Hypospadias, Bicuspid aortic valve, Ventr...	OMIM:617751
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Tachycardia, Ventricular septal defect, Aganglionic megacolon, Patent ductus arteriosus, Flexion ...	OMIM:613870
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Short neck, Abnormality of the endocrine system, Cryptorchidism, Renal hypoplasia, Pseudohypopara...	ORPHA:464288
Tricho-Dento-Osseous Syndrome	Dental enamel pits, Periapical tooth abscess, Enamel hypomineralization, Agenesis of incisor, Tau...	ORPHA:3352
Typhoid	Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Cardiac arrest, Splenomegaly, Abnormal pulm...	ORPHA:99745
Nephronophthisis 13	Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Pancrea...	OMIM:614377
Atrial Fibrillation, Familial, 18	Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio...	OMIM:617280
Vici Syndrome	Recurrent respiratory infections, Abnormality of retinal pigmentation, Death in infancy, Hypoplas...	ORPHA:1493
Mucoepithelial Dysplasia, Hereditary	Alopecia, Pneumonia, Recurrent pneumonia, Melena, Coarse hair, Nail dystrophy, Nail dysplasia, Sp...	OMIM:158310
Orthostatic Hypotension 1	Orthostatic hypotension, Atrial fibrillation, Reduced circulating prolactin concentration, Increa...	OMIM:223360
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia	OMIM:613839
Cardiomyopathy, Familial Hypertrophic, 17	Atrial fibrillation, Angina pectoris, Dyspnea, Ventricular tachycardia, Myocardial fibrosis, Palp...	OMIM:613873
Polycythemia Vera	Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hypertension, Pulmo...	ORPHA:729
Oocyte/Zygote/Embryo Maturation Arrest 4	Oocyte arrest at metaphase I, Female infertility	OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2	Oocyte arrest at metaphase I, Female infertility	OMIM:616780
Necrotizing Enterocolitis	Hyponatremia, Shock, Small for gestational age, Apnea, Leukocytosis, Abnormal heart morphology, B...	ORPHA:391673
Trichothiodystrophy 2, Photosensitive	Coarse hair, Tiger tail banding, Short stature	OMIM:616390
Oocyte/Zygote/Embryo Maturation Arrest 14	Oocyte maturation arrest, Female infertility	OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5	Lack of oocyte pronucleus formation, Female infertility	OMIM:617996
Ctcf-Related Neurodevelopmental Disorder	Short philtrum, Joint contracture of the 5th finger, Microdontia, Atrial septal defect, Cryptorch...	ORPHA:363611
Glossopharyngeal Neuralgia	Jaw claudication, Depression, Abnormal palate morphology, Weight loss, Chiari type I malformation...	ORPHA:221098
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Cerebellar vermis hypoplasia, Short neck, Micrognathia, Flexion contracture, Renal cyst, Knee fle...	OMIM:210710
Uruguay Faciocardiomusculoskeletal Syndrome	Congenital hip dislocation, Elevated circulating creatine kinase concentration, Limited elbow mov...	OMIM:300280
Congenital Rubella Syndrome	Abnormality of retinal pigmentation, Hepatomegaly, Ventricular septal defect, Thrombocytopenia, P...	ORPHA:290
Dyskeratosis Congenita, Autosomal Dominant 2	Pancytopenia, Aplastic anemia, Dilated cardiomyopathy, Leukopenia, Bone marrow hypocellularity, N...	OMIM:613989
Dyskeratosis Congenita, Autosomal Recessive 3	Pancytopenia, Bone marrow hypocellularity	OMIM:613988
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Calcinosis, Congenital hip dislocation, Micrognathia, Splenomegaly, Optic atrophy, ...	OMIM:617913
Mucopolysaccharidosis Type 2, Severe Form	Flexion contracture, Abnormal tricuspid valve morphology, Increased size of nasopharyngeal adenoi...	ORPHA:217085
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Respiratory distress, Redundant neck skin, Ventricular septal defect, Supernumerary nipple, Crypt...	ORPHA:2519
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness	Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent...	OMIM:615441
Nephronophthisis-Like Nephropathy 2	Recurrent respiratory infections, Renal insufficiency, Polyuria, Elevated circulating creatinine ...	OMIM:619468
Premature Ovarian Failure 2B	Premature ovarian insufficiency, Primary amenorrhea, Female infertility, Delayed puberty	OMIM:300604
Phace Association	Anomalous branches of internal carotid artery, Ventricular septal defect, Optic nerve hypoplasia,...	OMIM:606519
Neutral Lipid Storage Disease With Ichthyosis	Alopecia, Ataxia, Short stature, Progressive proximal muscle weakness, Obesity, Central nervous s...	ORPHA:98907
Orofacial Cleft 15	Agenesis of lateral incisor, Bilateral cleft palate, Bilateral cleft lip, Cryptorchidism, Palate ...	OMIM:616788
Craniolenticulosutural Dysplasia	Brittle hair, Short stature, Cryptorchidism, Posterior wedging of vertebral bodies, Optic atrophy...	OMIM:607812
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	Prolonged QT interval, Thin upper lip vermilion, Anal stenosis, Optic nerve hypoplasia, Micrognat...	OMIM:620029
Hereditary Geniospasm	Abnormality of mentalis muscle, Abnormal social behavior, Chin myoclonus, Intention tremor	ORPHA:53372
Dyskeratosis Congenita, Autosomal Recessive 2	Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia	OMIM:613987
X-Linked Intellectual Disability, Nascimento Type	Hypoplasia of the pons, Deep philtrum, Downturned corners of mouth, Neutropenia, Vesicoureteral r...	ORPHA:163956
Ciliary Dyskinesia, Primary, 20	Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,...	OMIM:615067
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Bicuspid aortic valve, Anomalous origin of left coronary artery from the pulmonary artery, Patent...	OMIM:618845
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Renal cyst, Micropenis, Pelvic kidney, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Abn...	ORPHA:464311
Mucopolysaccharidosis Type 2, Attenuated Form	Flexion contracture, Abnormal tricuspid valve morphology, Increased size of nasopharyngeal adenoi...	ORPHA:217093
Alagille Syndrome	Hepatomegaly, Failure to thrive, Telangiectasia of the skin, Ventricular septal defect, Renal hyp...	ORPHA:52
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Cerebellar atrophy, Failure to thrive, Ataxia, Paralysis, Cerebral cortical neurodegeneration, Ce...	OMIM:203700
Aggressive Systemic Mastocytosis	Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomegaly, Increased propor...	ORPHA:98850
Autosomal Recessive Spastic Paraplegia Type 11	Peripheral axonal neuropathy, Orthostatic hypotension, Ataxia, Parkinsonism, Overweight, Atrophy ...	ORPHA:2822
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Pancytopenia, Impaired neutrophil chemotaxis, Neutropenia, Hepatosplenomegaly, Leukopenia, T lymp...	OMIM:618986
Dihydropyrimidinase Deficiency	Elevated circulating dihydrouracil concentration, Elevated circulating uracil concentration, Urac...	OMIM:222748
Cardiac Valvular Dysplasia 2	Aortic regurgitation, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, B...	OMIM:620067
Nephrotic Syndrome, Type 22	Nephrotic range proteinuria, Podocyte foot process effacement, Stage 5 chronic kidney disease, Th...	OMIM:619155
Gaucher Disease, Type Iiic	Pancytopenia, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,...	OMIM:231005
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome	Bundle branch block, Arrhythmia, Abnormal cardiac septum morphology	ORPHA:1479
Listeriosis	Respiratory distress, Stiff neck, Liver abscess, Abnormal cellular immune system morphology, Nuch...	ORPHA:533
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat...	OMIM:616117
Leopard Syndrome 1	Mandibular prognathia, Bundle branch block, Limited elbow movement, Short neck, Webbed neck, Apla...	OMIM:151100
Q Fever	Respiratory distress, Abnormal left ventricular function, Cough, Hepatomegaly, Pericardial effusi...	ORPHA:781
Wiedemann-Rautenstrauch Syndrome	Short neck, Secundum atrial septal defect, Micrognathia, Flexion contracture, Downturned corners ...	OMIM:264090
Refsum Disease, Classic	Cardiomegaly, Congestive heart failure, Rod-cone dystrophy, Elevated circulating phytanic acid co...	OMIM:266500
Goodpasture Syndrome	Nodular pattern on pulmonary HRCT, Crackles, Tachypnea, Cough, Pulmonary infiltrates, Restrictive...	OMIM:233450
Long Qt Syndrome 1	Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,...	OMIM:192500
Double Outlet Left Ventricle	Double outlet left ventricle, Cyanosis, Ventricular septal defect, Failure to thrive, Abnormal co...	ORPHA:3427
Long Qt Syndrome 14	Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT...	OMIM:616247
Primary Lateral Sclerosis, Adult, 1	Spastic tetraparesis, Babinski sign, Spastic dysarthria, Abnormal upper motor neuron morphology, ...	OMIM:611637
Diamond-Blackfan Anemia 10	Respiratory distress, Macrocytic anemia, Ventricular septal defect, Congenital diaphragmatic hern...	OMIM:613309
Idiopathic Neonatal Atrial Flutter	Respiratory distress, Abnormal EKG, Abnormal atrioventricular conduction, Maternal diabetes, Larg...	ORPHA:45452
Cardiomyopathy, Familial Hypertrophic, 16	Orthopnea, Atrial fibrillation, Sudden cardiac death, Dyspnea, Ventricular tachycardia, Left bund...	OMIM:613838
Primary Hyperoxaluria	Choroidal neovascularization, Calcium oxalate nephrolithiasis, Heart block, Nephrocalcinosis, Abn...	ORPHA:416
Polymyositis	Elevated circulating creatine kinase concentration, Myocardial infarction, Cough, Hepatomegaly, V...	ORPHA:732
Congenital Heart Defects And Skeletal Malformations Syndrome	Hypospadias, Repeated pneumothoraces, Congenital diaphragmatic hernia, Ventricular septal defect,...	OMIM:617602
Periventricular Nodular Heterotopia 1	Bicuspid aortic valve, Cerebral hemorrhage, Patent ductus arteriosus, Abnormality of neuronal mig...	OMIM:300049
Apolipoprotein A-I Deficiency	Decreased HDL cholesterol concentration, Angina pectoris, Premature coronary artery atheroscleros...	ORPHA:425
Congenital Muscular Dystrophy With Cerebellar Involvement	Occipital encephalocele, Elevated circulating creatine kinase concentration, Hypoplasia of the po...	ORPHA:370959
Multisystemic Smooth Muscle Dysfunction Syndrome	Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Cryptorchidism, ...	OMIM:613834
Holt-Oram Syndrome	Paroxysmal atrial fibrillation, Ventricular septal defect, First degree atrioventricular block, P...	ORPHA:392
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Dextrocardia, Elevated cir...	OMIM:613095
Tetrasomy 5P	Respiratory distress, Recurrent respiratory infections, Redundant neck skin, Cyanosis, Short neck...	ORPHA:3309
Trimethylaminuria	Tachycardia, Trimethylaminuria, Splenomegaly, Recurrent pneumonia, Depression, Hypertension, Neut...	OMIM:602079
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Small for gestational age, Failure to thrive in infancy, Decreased proportion of CD8-positive T c...	OMIM:617241
Tonne-Kalscheuer Syndrome	Broad-based gait, Short stature, Congenital diaphragmatic hernia, Shyness, Tremor, Concave nail, ...	OMIM:300978
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno...	ORPHA:35858
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Increased urine alpha-ketoglutarate concentration, Thickened nuchal skin fold, Thin upper lip ver...	OMIM:220500
Cerebral Creatine Deficiency Syndrome 1	Prolonged QT interval, Mandibular prognathia, Aganglionic megacolon, Ileus, Elevated circulating ...	OMIM:300352
Primary Lateral Sclerosis	Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Weakness due to upper motor ...	ORPHA:35689
Jervell And Lange-Nielsen Syndrome 2	Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ...	OMIM:612347
Neuronal Intestinal Pseudoobstruction	Natal tooth, Patent ductus arteriosus, Abnormal cardiac septum morphology	ORPHA:99811
Postinfectious Vasculitis	Elevated circulating C-reactive protein concentration, Bacterial endocarditis, Acrocyanosis, Recu...	ORPHA:48435
Marbach-Rustad Progeroid Syndrome	Reduced subcutaneous adipose tissue, Prominent superficial veins, Delayed eruption of primary tee...	OMIM:619322
Spinocerebellar Ataxia Type 26	Cerebellar atrophy, Somatic sensory dysfunction, Paralysis, Babinski sign, Limb ataxia, Progressi...	ORPHA:101112
Short Stature, Developmental Delay, And Congenital Heart Defects	Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect	OMIM:617044
Trichothiodystrophy 5, Nonphotosensitive	Broad-based gait, Brittle hair, Short stature, Optic nerve hypoplasia, Slow-growing hair, Sparse ...	OMIM:300953
Hyperoxaluria, Primary, Type I	Hyperoxaluria, Renal insufficiency, Choroidal neovascularization, Cutis marmorata, Retinal crysta...	OMIM:259900
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot...	OMIM:612561
Combined Oxidative Phosphorylation Deficiency 41	Nonimmune hydrops fetalis, Cardiomegaly	OMIM:618838
Branchiogenic-Deafness Syndrome	Branchial cyst, Branchial fistula, Short distal phalanx of finger	OMIM:609166
Smith-Lemli-Opitz Syndrome	Hypoplasia of penis, Congenital diaphragmatic hernia, Short neck, Micrognathia, Abnormal lung lob...	ORPHA:818
Tularemia	Respiratory distress, Brain abscess, Tachycardia, Abnormal pulmonary thoracic imaging finding, Pn...	ORPHA:3392
Paroxysmal Nocturnal Hemoglobinuria	Myocardial infarction, Pulmonary embolism, Hemoglobinuria, Leukopenia, Renal Fanconi syndrome, Er...	ORPHA:447
Lethal Congenital Contracture Syndrome 2	Skeletal muscle atrophy, Ventricular septal defect, Edema, Polyhydramnios, Dilated cardiomyopathy...	OMIM:607598
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Arthropathy, Papilledema, Bicuspid aortic valve, Ventricular septal defect, Premature thelarche, ...	ORPHA:371428
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Decreased response to growth hormone stimulation test, Micrognathia, Downturned corners of mouth,...	ORPHA:444077
Suleiman-El-Hattab Syndrome	Microretrognathia, Recurrent respiratory infections, Optic disc pallor, Thin upper lip vermilion,...	OMIM:618950
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Respiratory arres...	OMIM:600649
Boucher-Neuhauser Syndrome	Cerebellar atrophy, Ataxia, Hypogonadotropic hypogonadism, Gait ataxia, Spinocerebellar atrophy, ...	OMIM:215470
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Distal muscle weakness, Kyphoscoliosis, Centrally nucleated skeletal muscle fibers, Impaired pain...	OMIM:619574
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Cerebellar atrophy, Ureteral stenosis, Hydroureter, Abnormality of the dentition, Large for gesta...	OMIM:615398
Oocyte/Zygote/Embryo Maturation Arrest 13	Female infertility	OMIM:620154
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Hepatomegaly, Tachycardia, Proteinuria, Large for gestational age, Abnormal circulating fatty-aci...	ORPHA:263455
Oocyte/Zygote/Embryo Maturation Arrest 8	Female infertility	OMIM:619009
Cutis Laxa, Autosomal Recessive, Type Ib	Prominence of the premaxilla, Congenital diaphragmatic hernia, Arterial tortuosity, Micrognathia,...	OMIM:614437
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Pneumonia, Recurrent pn...	OMIM:300400
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Tented upper lip vermilion, Short neck, Hypertrophy of the urinary bladder, High palate, Atrial s...	ORPHA:280633
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Bradycardia	ORPHA:2898
Spastic Paraplegia 9A, Autosomal Dominant	Impaired vibratory sensation, Lower limb spasticity, Resting tremor, Distal muscle weakness, Shor...	OMIM:601162
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Failure to thrive, Tricuspid regurgitation, Patent ductus arteriosus after ...	OMIM:618460
Severe X-Linked Mitochondrial Encephalomyopathy	Increased serum pyruvate, Skeletal muscle atrophy, Respiratory distress, Respiratory insufficienc...	ORPHA:238329
Oocyte/Zygote/Embryo Maturation Arrest 12	Female infertility	OMIM:619697
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Mandibular prognathia, Dental crowding, Decreased response to growth hormone stimulation test, Ap...	OMIM:619503
Robinow Syndrome, Autosomal Dominant 3	Hypoplastic right heart, Short neck, Micrognathia, Downturned corners of mouth, Anteriorly placed...	OMIM:616894
Bjornstad Syndrome	Alopecia, Brittle hair, Dry hair, Coarse hair, Hypogonadism, Hair shafts flattened at irregular i...	OMIM:262000
Porphyria, Acute Hepatic	Respiratory paralysis, Failure to thrive, Paresthesia, Paralysis	OMIM:612740
Transaldolase Deficiency	Edema, Hydrops fetalis, Hepatosplenomegaly, Biventricular hypertrophy, Atrial septal defect	ORPHA:101028
Fanconi Anemia, Complementation Group B	Death in infancy, Ventricular septal defect, Aplastic anemia, Hypergonadotropic hypogonadism, Sho...	OMIM:300514
Pulmonary Atresia With Intact Ventricular Septum	Pulmonary artery atresia, Hypoplastic right heart	OMIM:265150
Isolated Complex I Deficiency	Increased serum pyruvate, Optic disc pallor, Hepatomegaly, Diabetes mellitus, Optic neuropathy, F...	ORPHA:2609
Cardiomyopathy, Dilated, 1E	Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio...	OMIM:601154
Macrocephaly/Autism Syndrome	Speech apraxia, Large for gestational age, Obesity, Hydrocele testis, Coarse hair	OMIM:605309
19P13.12 Microdeletion Syndrome	Aortic regurgitation, Hypospadias, Ventricular septal defect, Craniosynostosis, Short neck, Preco...	ORPHA:254346
W Syndrome	Elbow dislocation, Submucous cleft hard palate, Agenesis of maxillary central incisor, Camptodact...	ORPHA:2804
Sulfite Oxidase Deficiency, Isolated	Death in infancy, Generalized dystonia, Ataxia, Cerebral atrophy, Fine hair, Choreoathetosis, Hyp...	OMIM:272300
Glycogen Storage Disease Ic	Hepatomegaly, Renal insufficiency, Proteinuria, Cyclic neutropenia, Spider hemangioma, Hyperlipid...	OMIM:232240
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine...	OMIM:612925
Griscelli Syndrome Type 2	Splenomegaly, Pancytopenia, Hemophagocytosis, Neutropenia	ORPHA:79477
Atrial Septal Defect, Coronary Sinus Type	Bundle branch block, Right ventricular dilatation, Unroofed coronary sinus, Anomalous pulmonary v...	ORPHA:99104
Immunodeficiency 60 And Autoimmunity	Splenomegaly, Pancytopenia, Decreased proportion of memory B cells, Decreased basophil count	OMIM:618394
Intellectual Developmental Disorder, Autosomal Dominant 56	Lower limb spasticity, Broad-based gait, Ataxia, Paraparesis, Inability to walk, Oromotor apraxia...	OMIM:617854
Noonan Syndrome	Abnormal hair quantity, Short stature, Hypogonadotropic hypogonadism, Cryptorchidism, Pulmonary a...	ORPHA:648
Waardenburg Syndrome Type 3	Camptodactyly of finger, Atelectasis, Spastic paraplegia, White hair, Thick eyebrow	ORPHA:896
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Death in infancy, Small for gestational age, Cardiomegaly, Short neck, Deep philtrum, Tachypnea, ...	OMIM:613320
Polyglucosan Body Neuropathy, Adult Form	Peripheral axonal neuropathy, Orthostatic hypotension, Spastic paraplegia, Distal sensory impairm...	OMIM:263570
Neurogenic Arthrogryposis Multiplex Congenita	Respiratory distress, Skeletal muscle atrophy, Hip contracture, Lower limb muscle weakness, Ankle...	ORPHA:1143
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2	Cerebellar atrophy, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, ...	OMIM:616479
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Short stature, Small for gestational age, Kinetic tremor, Hyperlordosis, Kyphoscoliosis, Increase...	OMIM:616817
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Pericardial eff...	OMIM:619313
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Failure to thrive, Ventricular septal defect, Cutis marmorata, Short neck, Protruding tongue, Cry...	OMIM:612938
Cat Eye Syndrome	Micrognathia, Chorioretinal coloboma, Atrial septal defect, Vesicoureteral reflux, Iris coloboma,...	OMIM:115470
Developmental And Epileptic Encephalopathy 40	Lethargy, Hyaline membranes, Small for gestational age	OMIM:617065
Combined Oxidative Phosphorylation Defect Type 23	Wolff-Parkinson-White syndrome, Cyanosis, Abnormal brainstem MRI signal intensity, Congestive hea...	ORPHA:444013
Meckel Syndrome 14	Microretrognathia, Occipital encephalocele, Tricuspid regurgitation, Cyanosis, Short neck, Microg...	OMIM:619879
Premature Ovarian Failure 19	Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility	OMIM:619245
Amoebiasis Due To Free-Living Amoebae	Myocardial necrosis, Abnormality of taste sensation, Stiff neck, Sinusitis, Pneumonia, Facial pal...	ORPHA:68
Arboleda-Tham Syndrome	Mandibular prognathia, Respiratory distress, Secundum atrial septal defect, Bilateral cryptorchid...	OMIM:616268
Tatton-Brown-Rahman Syndrome	Mandibular prognathia, Tricuspid regurgitation, Bipolar affective disorder, Supraventricular tach...	ORPHA:404443
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Tachycardia, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperplasia, Hyperins...	ORPHA:276608
Cardiomyopathy, Dilated, 1S	Bicuspid aortic valve, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Perimembra...	OMIM:613426
Fetal Minoxidil Syndrome	Umbilical hernia, Ventricular septal defect, Cryptorchidism	ORPHA:1918
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega...	OMIM:601214
Chondrodysplasia, Blomstrand Type	Stillbirth, Preductal coarctation of the aorta	OMIM:215045
Familial Cervical Artery Dissection	Transient ischemic attack, Facial palsy, Subarachnoid hemorrhage, Paralysis, Recurrent cerebral h...	ORPHA:36382
Melnick-Needles Syndrome	Recurrent respiratory infections, Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Coars...	OMIM:309350
Atrial Fibrillation, Familial, 14	ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval	OMIM:615378
Isolated Thyroid-Stimulating Hormone Deficiency	Large posterior fontanelle, Lethargy, Depression, Bradycardia, Umbilical hernia, Decreased thyroi...	ORPHA:90674
Familial Progressive Cardiac Conduction Defect	Bundle branch block, Heart block, Congestive heart failure, Dyspnea, Syncope, Arrhythmia	ORPHA:871
Diamond-Blackfan Anemia 1	Short neck, Micrognathia, Reticulocytopenia, High palate, Neutropenia, Atrial septal defect, Spin...	OMIM:105650
Charcot-Marie-Tooth Disease Type 4B2	Proximal muscle weakness in upper limbs, Decreased distal sensory nerve action potential, Myelin ...	ORPHA:99956
Neurodegeneration With Brain Iron Accumulation 3	Ataxia, Parkinsonism, Writer's cramp, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B...	OMIM:606159
Mitochondrial Dna-Related Progressive External Ophthalmoplegia	Progressive external ophthalmoplegia, Respiratory insufficiency due to muscle weakness, Progressi...	ORPHA:663
Hereditary Motor And Sensory Neuropathy, Type Iic	Hand muscle atrophy, Proximal muscle weakness in upper limbs, Distal lower limb amyotrophy, Decre...	OMIM:606071
Bangstad Syndrome	Pancytopenia	OMIM:210740
Dpagt1-Cdg	Prolonged QT interval, Hepatomegaly, Failure to thrive, Abnormal cerebellum morphology, Flexion c...	ORPHA:86309
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)	Truncal titubation, Facial palsy, External ophthalmoplegia, Paraparesis, Chorea, Inability to wal...	OMIM:607483
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Schistocytosis, Elevated circ...	OMIM:235400
46,Xy Sex Reversal 4	Renal dysplasia, Distal symphalangism, Hypergonadotropic hypogonadism, Micrognathia, Elevated cir...	OMIM:154230
Hypotrichosis 4	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair	OMIM:146550
Microsporidiosis	Myositis, Sinusitis, Bronchitis, Abnormality of the spleen, Abnormality of the parathyroid gland,...	ORPHA:2552
Cortical Dysplasia, Complex, With Other Brain Malformations 3	Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Pachygyria, Agyria	OMIM:615411
Pulmonary Capillary Hemangiomatosis	Pulmonary edema, Cyanosis, Diffuse alveolar hemorrhage, Right ventricular failure, Pulmonary capi...	ORPHA:199241
Distal Deletion 12Q	Ectopic kidney, Short neck, Micrognathia, High, narrow palate, Vesicoureteral reflux, Micropenis,...	ORPHA:96149
Cardiomyopathy, Dilated, 1V	Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul...	OMIM:613697
Chromosome 9P Deletion Syndrome	Thin upper lip vermilion, Hypospadias, Ventricular septal defect, Short neck, Micrognathia, High,...	OMIM:158170
Glycogen Storage Disease Iv	Skeletal muscle atrophy, Edema, Polyhydramnios, Hydrops fetalis, Hepatosplenomegaly, Cardiomyopat...	OMIM:232500
Hemochromatosis, Type 1	Hepatomegaly, Cardiomegaly, Splenomegaly, Cardiomyopathy, Pleural effusion, Ascites	OMIM:235200
Legionnaires Disease	Abnormal lung morphology, Cough, Hyponatremia, Recurrent pharyngitis, Respiratory insufficiency, ...	ORPHA:549
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies	Cerebellar atrophy, Hypospadias, Facial hypotonia, Exaggerated cupid's bow, Micrognathia, Cryptor...	OMIM:618659
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Abnormal aortic morphology, Ventricular septal defect, Abnormal tricuspid valve morphology	ORPHA:3405
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Skeletal muscle atrophy, Atrial fibrillation, Proximal amyotrophy, Bradycardia, Muscular dystroph...	OMIM:614302
Atrial Septal Defect 6	Atrial septal defect, Atrial fibrillation, Bradycardia	OMIM:613087
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Abnormal EKG, Scapular winging, Proximal muscle weakness in upper limbs, Elevated circulating cre...	ORPHA:268
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine...	OMIM:612926
Lessel-Kreienkamp Syndrome	Thin upper lip vermilion, Wide cranial sutures, Bicuspid aortic valve, Patent ductus arteriosus, ...	OMIM:619149
Long Qt Syndrome 9	Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a...	OMIM:611818
Mucolipidosis Ii Alpha/Beta	Increased serum beta-hexosaminidase, Cardiomegaly, Micrognathia, Death in childhood, Progressive ...	OMIM:252500
Mosaic Trisomy 9	Hypoplasia of penis, Short neck, Asplenia, Micrognathia, Abnormal lung lobation, High palate, End...	ORPHA:99776
Combined Oxidative Phosphorylation Defect Type 39	Optic disc pallor, Cryptorchidism, Abnormal cerebellum morphology, Congenital foot contractures, ...	ORPHA:565624
Lymphatic Malformation 7	Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial edema, Increased nucha...	OMIM:617300
Charcot-Marie-Tooth Disease Type 4C	Decreased motor nerve conduction velocity, Gait ataxia, Tongue fasciculations, Head tremor, Foot ...	ORPHA:99949
Rett Syndrome	Skeletal muscle atrophy, Apnea, Intermittent hyperventilation, Cachexia, Abnormality of the denti...	OMIM:312750
Hypercalcemia, Infantile, 1	Failure to thrive, Polyuria, Hypercalcemia, Decreased circulating parathyroid hormone level, Neph...	OMIM:143880
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Microretrognathia, Thin upper lip vermilion, Neonatal respiratory distress, Ventricular septal de...	ORPHA:457193
Chromosome 6Q24-Q25 Deletion Syndrome	Persistent fetal circulation, Thin upper lip vermilion, Respiratory distress, Tricuspid regurgita...	OMIM:612863
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Severe B lymphocytopenia, Micrognathia, Cough, Microdontia, Atrial septal defect, Hypothyroidism,...	OMIM:620005
Classical-Like Ehlers-Danlos Syndrome Type 1	Gastrointestinal hemorrhage, Skeletal muscle atrophy, Precocious atherosclerosis, Adrenal hypopla...	ORPHA:230839
Li-Ghorbani-Weisz-Hubshman Syndrome	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:618974
Spinal muscular atrophy, type I, with congenital bone fractures	Decreased muscle mass, Flexion contracture, Acute infantile spinal muscular atrophy, Degeneration...	OMIM:271225
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations	Mandibular prognathia, Failure to thrive, Micrognathia, Cryptorchidism, Simplified gyral pattern,...	OMIM:604317
Kapur-Toriello Syndrome	Ventricular septal defect, Short neck, Patent ductus arteriosus, Tetralogy of Fallot, Retinal col...	ORPHA:2328
Alpha-N-Acetylgalactosaminidase Deficiency	Lymphedema, Cardiomegaly	ORPHA:3137
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Thickened nuchal skin fold, Cerebellar vermis hypoplasia, Limb joint contracture, Failure to thri...	ORPHA:284417
Microlissencephaly	Cerebellar atrophy, Subcortical heterotopia, Pneumonia, Periventricular heterotopia, Simplified g...	ORPHA:1083
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Tented upper lip vermilion, Micrognathia, High, narrow palate, Abnormal lung lobation, Renal cyst...	ORPHA:369837
Coach Syndrome 2	Cerebellar vermis hypoplasia, Elevated circulating creatinine concentration, Hypertension, Colobo...	OMIM:619111
Hydatidiform Mole, Recurrent, 3	Female infertility	OMIM:618431
Hydatidiform Mole, Recurrent, 4	Female infertility	OMIM:618432
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Villous atrophy, Medial calcification of large arteries, Functional abnormality of the bladder, T...	ORPHA:391487
Dengue Fever	Gastrointestinal hemorrhage, Hepatomegaly, Petechiae, Epistaxis, Cerebral hemorrhage, Cardiorespi...	ORPHA:99828
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Mandibular prognathia, Redundant neck skin, Peripheral retinal avascularization, Tented upper lip...	ORPHA:96334
Parathyroid Carcinoma	Renal cyst, Abnormal parathyroid morphology, Nephrocalcinosis, Elevated circulating parathyroid h...	ORPHA:143
Gm1 Gangliosidosis	Mandibular prognathia, Aspiration pneumonia, Cherry red spot of the macula, Patent ductus arterio...	ORPHA:354
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Micrognathia, Conjugated hyperbilirubinemia, Nephrocalcinosis, Aminoaciduria, Atrial septal defec...	OMIM:208085
Jervell And Lange-Nielsen Syndrome	Iron deficiency anemia, Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricu...	ORPHA:90647
Pulmonary Hypertension, Primary, 5	Angina pectoris, Right ventricular failure, Exertional dyspnea, Syncope, Pulmonary arterial hyper...	OMIM:265400
Odontochondrodysplasia 1	Delayed eruption of teeth, Recurrent respiratory infections, Death in infancy, Respiratory distre...	OMIM:184260
Right Pulmonary Artery, Anomalous Origin Of, Familial	Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ...	OMIM:610338
Werner Syndrome	Skeletal muscle atrophy, Myocardial infarction, Abnormal cerebral vascular morphology, Premature ...	ORPHA:902
Stuve-Wiedemann Syndrome 2	Respiratory distress, Congestive heart failure, Death in adolescence, Stillbirth, Camptodactyly, ...	OMIM:619751
Encephalitis Lethargica	Stiff neck, Urinary incontinence, Limitation of neck motion, Upper limb muscle weakness, Bradycar...	ORPHA:83600
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Methylmalonic acidemia, Hypomethioninemia, Normocytic anemia, Megaloblastic anemia, Methylmalonic...	OMIM:236270
Cardiomyopathy, Familial Hypertrophic, 10	Sudden cardiac death, Dyspnea, Ventricular tachycardia, Left bundle branch block, Asymmetric sept...	OMIM:608758
Krabbe Disease	Diffuse cerebral atrophy, Decreased nerve conduction velocity, Optic atrophy, Hypertonia, Neurode...	OMIM:245200
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome	Ataxia, Cryptorchidism, Fine hair, Gait disturbance, Sparse hair	ORPHA:1174
Japanese Encephalitis	Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Tremor, Opisthotonus, Choreoa...	ORPHA:79139
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome	Aplasia of the thymus, Duodenal atresia	ORPHA:3004
Vitreoretinochoroidopathy	Retinal detachment, Retinal arteriolar occlusion, Pigmentary retinopathy, Vitreous hemorrhage, Re...	OMIM:193220
Pulmonary Arteriovenous Malformation	Liver abscess, Myocardial infarction, Iron deficiency anemia, Bacterial endocarditis, Cough, Abno...	ORPHA:2038
Pmm2-Cdg	Mandibular prognathia, Respiratory distress, Multiple joint contractures, Cerebellar vermis hypop...	ORPHA:79318
Chand Syndrome	Hydroureter, Atelectasis, Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morph...	ORPHA:1401
Multiple Endocrine Neoplasia Type 1	Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t...	ORPHA:652
Baraitser-Winter Cerebrofrontofacial Syndrome	Short neck, Micrognathia, Pachygyria, Iris coloboma, Long philtrum, Prominent metopic ridge, Abno...	ORPHA:2995
Desmosterolosis	Failure to thrive, Renal agenesis, Abnormal cortical gyration, Intestinal malrotation, Renal hypo...	ORPHA:35107
Gm2 Gangliosidosis, Ab Variant	Exaggerated startle response, Short stature, Postnatal growth retardation, Chorea, Abnormal pyram...	ORPHA:309246
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Respiratory distress, Recurrent respiratory infections, Hepatomegaly, Tented upper lip vermilion,...	OMIM:619383
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Wolff-Parkinson-White syndrome, Diabetes mellitus, Congestive heart failure, Ragged-red muscle fi...	OMIM:540000
Woolly Hair, Autosomal Dominant	Abnormal eyebrow morphology, Dry hair, Slow-growing hair, Abnormal eyelash morphology, Coarse hai...	OMIM:194300
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Pr...	OMIM:620138
Chromosome 13Q33-Q34 Deletion Syndrome	Irregular dentition, Tented upper lip vermilion, Micrognathia, Anteriorly placed anus, High palat...	OMIM:619148
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Isothenuria, Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Nephrocalcinosis, Decreased m...	OMIM:611590
Immunodeficiency 23	Recurrent respiratory infections, Hemolytic anemia, Membranoproliferative glomerulonephritis, Fai...	OMIM:615816
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Mandibular prognathia, Cerebellar vermis hypoplasia, Bicuspid aortic valve, Urinary incontinence,...	ORPHA:261552
Filippi Syndrome	Cerebellar atrophy, Ventricular septal defect, Cryptorchidism, Optic atrophy, Thin vermilion bord...	OMIM:272440
Meacham Syndrome	Hypoplasia of penis, Crossed fused renal ectopia, Ventricular septal defect, Congenital diaphragm...	ORPHA:3097
Right Atrial Isomerism	Atrial septal defect, Right atrial isomerism, Ventricular septal defect, Aortopulmonary collatera...	OMIM:208530
Alg9-Cdg	Villous atrophy, Short neck, Micrognathia, Abnormal lung lobation, Right ventricular dilatation, ...	ORPHA:79328
Rheumatic Fever	Pericarditis, Sinusitis, Abnormal heart valve morphology, Epistaxis, Abnormal pleura morphology, ...	ORPHA:3099
Lissencephaly Syndrome, Norman-Roberts Type	Microretrognathia, Cerebellar atrophy, Respiratory distress, 4-layered lissencephaly, Abnormal re...	ORPHA:89844
Choreoacanthocytosis	Caudate atrophy, Peroneal muscle atrophy, Chorea, Hypertonia, Limb dystonia, Muscle fiber atrophy...	ORPHA:2388
Bohring-Opitz Syndrome	Joint dislocation, Micrognathia, Flexion contracture, Hypoplasia of the brainstem, Abnormal optic...	OMIM:605039
Atrial Standstill 2	Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dilatation of the ventricular cavity, Hy...	OMIM:615745
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine...	OMIM:612924
Lcat Deficiency	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:650
Gaucher Disease, Type I	Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Aortic valve stenosis, Thrombocytopenia	OMIM:230800
Periventricular Heterotopia With Microcephaly, Autosomal Recessive	Periventricular nodular heterotopia, Failure to thrive, Periventricular heterotopia	OMIM:608097
Focal Dermal Hypoplasia	Congenital diaphragmatic hernia, Chorioretinal coloboma, Iris coloboma, Multicystic kidney dyspla...	ORPHA:2092
Arnold-Chiari Malformation Type I	Somatic sensory dysfunction, Abnormality of the musculature of the lower limbs, Dysesthesia, Myel...	ORPHA:268882
Pseudo-Torch Syndrome 1	Microretrognathia, Hepatomegaly, Renal insufficiency, Failure to thrive, Petechiae, Splenomegaly,...	OMIM:251290
Mitochondrial Complex I Deficiency, Nuclear Type 3	Hepatomegaly, Lethargy, Respiratory insufficiency, Death in childhood	OMIM:618224
Semilobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Flexion contracture, Panhypopituitarism, H...	ORPHA:220386
Diaphanospondylodysostosis	Respiratory distress, Nephrogenic rest, Short neck, Micrognathia, Increased nuchal translucency, ...	OMIM:608022
Alobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Flexion contracture, Panhypopituitarism, H...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Decreased response to growth hormone stimulation test, Flexion contracture, Panhypopituitarism, H...	ORPHA:93926
Lobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Flexion contracture, Panhypopituitarism, H...	ORPHA:93924
Methylmalonic Acidemia With Homocystinuria	Lethargy, Failure to thrive, Retinopathy	ORPHA:26
Cardiac Septal Defects With Coarctation Of The Aorta	Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta	OMIM:212090
Muscular Dystrophy, Duchenne Type	Abnormal EKG, Calf muscle pseudohypertrophy, Hypoventilation, Elevated circulating creatine kinas...	OMIM:310200
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Hepatomegaly, Chorioretinal atrophy, Hyperammonemia, Hyperornithinemia, Lethargy, Failure to thri...	OMIM:238970
Periventricular Nodular Heterotopia 7	Microretrognathia, Optic disc pallor, Failure to thrive, Contracture of the proximal interphalang...	OMIM:617201
Degcags Syndrome	Micrognathia, Bilateral renal hypoplasia, Premature graying of hair, Leukopenia, Iron deficiency ...	OMIM:619488
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Microretrognathia, Joint dislocation, Scapular winging, Tricuspid regurgitation, Ventricular sept...	OMIM:618870
Oocyte/Zygote/Embryo Maturation Arrest 11	Female infertility	OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 6	Female infertility	OMIM:618353
Progesterone Resistance	Female infertility	OMIM:264080
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Thin upper lip vermilion, Hydroureter, Bicuspid aortic valve, Ventricular septal defect, Limited ...	OMIM:610759
Oocyte/Zygote/Embryo Maturation Arrest 15	Female infertility	OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 3	Female infertility	OMIM:617712
Oocyte/Zygote/Embryo Maturation Arrest 7	Female infertility	OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 18	Female infertility	OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19	Female infertility	OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 1	Female infertility	OMIM:615774
Hyperparathyroidism-Jaw Tumor Syndrome	Renal insufficiency, Pancreatic adenocarcinoma, Hypercalcemia, Renal hamartoma, Testicular neopla...	ORPHA:99880
Cantu Syndrome	Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Lymphedema, Patent ductus arteriosus, ...	OMIM:239850
Noonan Syndrome 12	Ventricular septal defect, Decreased response to growth hormone stimulation test, Tetralogy of Fa...	OMIM:618624
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc...	OMIM:613251
Kabuki Syndrome 2	Natal tooth, Micrognathia, Lower lip pit, Dental malocclusion, Hip dislocation, Horseshoe kidney,...	OMIM:300867
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis, Bulbar palsy, Limb muscle weakness	OMIM:619133
Craniofacial Dyssynostosis With Short Stature	Ventricular septal defect, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Pyloric stenosi...	OMIM:218350
Immunodeficiency 95	Respiratory distress, Recurrent respiratory infections, Lymphopenia, Ground-glass opacification, ...	OMIM:619773
Sudden Cardiac Failure, Infantile	Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy...	OMIM:617222
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Splenomegaly, Pancytopenia, Hemophagocytosis, Anemia	OMIM:618398
Mosaic Trisomy 16	Meckel diverticulum, Hypospadias, Ventricular septal defect, Maternal diabetes, Small for gestati...	ORPHA:1708
Proteus-Like Syndrome	Mandibular prognathia, Retinal detachment, Thymus hyperplasia, Genu recurvatum, Venous insufficie...	ORPHA:2969
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Mandibular prognathia, Cerebellar vermis hypoplasia, Bicuspid aortic valve, Urinary incontinence,...	ORPHA:261537
Zellweger Syndrome	Micrognathia, High palate, Death in infancy, Multicystic kidney dysplasia, Hepatomegaly, Hypospad...	ORPHA:912
Magel2-Related Prader-Willi-Like Syndrome	Flexion contracture, Xerostomia, Increased body weight, Downturned corners of mouth, Chorioretina...	ORPHA:398069
Isolated Right Ventricular Hypoplasia	Cardiomegaly, Muscular ventricular septal defect, Pedal edema, Atrial septal defect, Patent foram...	ORPHA:439
High Altitude Pulmonary Edema	Orthopnea, Tachycardia, Cyanosis, Crackles, Dyspnea, Leukocytosis, Tachypnea, Hypoxemia, Cough, P...	ORPHA:330012
Ellis Van Creveld Syndrome	Abnormal oral mucosa morphology, Epispadias, Conical incisor, Atrial septal defect, Microdontia, ...	ORPHA:289
Noonan Syndrome 4	Abnormal bleeding, Ureteral duplication, Ventricular septal defect, Short neck, Large for gestati...	OMIM:610733
Moebius Syndrome	Respiratory distress, Hypogonadotropic hypogonadism, Short neck, Micrognathia, Abnormality of the...	OMIM:157900
Congenital Heart Defects, Multiple Types, 5	Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ...	OMIM:617912
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome	Patent ductus arteriosus, Abnormal aortic morphology, Hypoplastic left heart, Short neck	ORPHA:2001
Leber Hereditary Optic Neuropathy	Retinal telangiectasia, Optic atrophy, Ventricular preexcitation, Myopathy, Retinal vascular tort...	ORPHA:104
3-Methylglutaconic Aciduria, Type Viib	Abnormal bleeding, Cerebellar atrophy, Respiratory distress, Micrognathia, Congestive heart failu...	OMIM:616271
Sheehan Syndrome	Decreased circulating cortisol level, Reduced circulating prolactin concentration, Gonadotropin d...	ORPHA:91355
Yunis-Varon Syndrome	Redundant neck skin, Cardiomegaly, Micrognathia, High, narrow palate, Broad secondary alveolar ri...	ORPHA:3472
Jacobsen Syndrome	Short neck, Pachygyria, Iris coloboma, Long philtrum, Abnormality of the anus, Death in infancy, ...	ORPHA:2308
Heterotaxy, Visceral, 5, Autosomal	Atrial reentry tachycardia, Ureteral duplication, Asplenia, Dextrotransposition of the great arte...	OMIM:270100
Hereditary Arterial And Articular Multiple Calcification Syndrome	Coronary artery calcification, Arterial tortuosity, Arterial occlusion, Abnormal vascular morphol...	ORPHA:289601
Hyperprolactinemia	Menorrhagia, Oligomenorrhea, Female infertility	OMIM:615555
Osteopetrosis, Autosomal Recessive 2	Pancytopenia, Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia, Thrombocytopenia	OMIM:259710
Contractural Arachnodactyly, Congenital	Bicuspid aortic valve, Short neck, Micrognathia, Knee flexion contracture, High palate, Atrial se...	OMIM:121050
Acute Promyelocytic Leukemia	Bone marrow hypercellularity, Pancytopenia, Thrombocytopenia, Leukocytosis, Leukopenia, Neutropen...	ORPHA:520
Toxic Epidermal Necrolysis	Gastrointestinal hemorrhage, Recurrent respiratory infections, Renal insufficiency, Respiratory d...	ORPHA:537
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Tachycardia, Generalized dystonia, Ataxia, Chorea, Ophthalmoplegia, Dilated cardiomyopathy, Spast...	OMIM:618321
Myasthenic Syndrome, Congenital, 16	Hyperlordosis, External ophthalmoplegia, Periodic paralysis, Fatigable weakness, Gait disturbance	OMIM:614198
Coccidioidomycosis	Respiratory distress, Abnormality of the spleen, Nuchal rigidity, Cough, Abnormality of the kidne...	ORPHA:228123
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Respiratory distress, Congenital hip dislocation, Cerebellar vermis hypoplasia, Abnormal periodon...	ORPHA:480880
Walker-Warburg Syndrome	Skeletal muscle atrophy, Hypoplasia of penis, Chorioretinal dysplasia, Abnormal optic nerve morph...	ORPHA:899
Cyclic Vomiting Syndrome	Cardiomyopathy, Lethargy	OMIM:500007
Nephronophthisis 16	Renal insufficiency, Situs inversus totalis, Patent ductus arteriosus, Stage 5 chronic kidney dis...	OMIM:615382
15Q11.2 Microdeletion Syndrome	Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo...	ORPHA:261183
Chromosome 5Q12 Deletion Syndrome	Ventricular septal defect, Short neck, Micrognathia, Increased nuchal translucency, Patent ductus...	OMIM:615668
Orofaciodigital Syndrome Xiv	Occipital encephalocele, Cerebellar vermis hypoplasia, Micrognathia, Epispadias, Simplified gyral...	OMIM:615948
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Hypoplasia of penis, Ventricular septal defect, Cryptorchidism, Abnormality of neuronal migration...	ORPHA:2772
Oculofaciocardiodental Syndrome	Oligodontia, Fused teeth, Iris coloboma, Patent ductus arteriosus, Flexion contracture of the 2nd...	ORPHA:2712
Isolated Lissencephaly Type 1 Without Known Genetic Defects	Gray matter heterotopia, Pachygyria, Agyria	ORPHA:1084
Central Diabetes Insipidus	Hyponatremia, Depression, Weight loss, Lethargy, Failure to thrive, Diabetes insipidus, Nocturia	ORPHA:178029
Transcobalamin Ii Deficiency	Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Megaloblastic bone marr...	OMIM:275350
Congenital Total Pulmonary Venous Return Anomaly	Respiratory distress, Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venou...	ORPHA:99125
Multiple Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Hepatomegaly, Glutaric aciduria, Wide anterior fontanel, Jaundice, Generali...	OMIM:231680
Catel-Manzke Syndrome	Ventricular septal defect, Camptodactyly of finger, Micrognathia, Cleft palate, Glossoptosis, Atr...	ORPHA:1388
Idiopathic Hypereosinophilic Syndrome	Respiratory distress, Skeletal muscle atrophy, Generalized lymphadenopathy, Pulmonary embolism, I...	ORPHA:3260
Kapur-Toriello Syndrome	Ventricular septal defect, Camptodactyly of finger, Intestinal malrotation, Short neck, Pachygyri...	OMIM:244300
Hypothyroidism Due To Tsh Receptor Mutations	Thyroid hypoplasia, Large posterior fontanelle, Increased circulating thyroglobulin level, Goiter...	ORPHA:90673
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Respiratory distress, Skeletal muscle atrophy, Hepatomegaly, Failure to thrive, Portal hypertensi...	ORPHA:367
Hypothyroidism, Congenital, Nongoitrous, 7	Decreased circulating T4 concentration, Reduced TSH response to thyrotrophin-releasing hormone st...	OMIM:618573
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,...	ORPHA:486
Mitochondrial Complex I Deficiency, Nuclear Type 5	Cerebellar atrophy, Hepatomegaly, Apnea, Optic atrophy, Respiratory insufficiency, Lethargy, Fail...	OMIM:618226
Early Myoclonic Encephalopathy	Recurrent respiratory infections, Lethargy	ORPHA:1935
Gaucher Disease Type 1	Pancytopenia, Hypersplenism, Splenomegaly, Pericardial effusion, Anemia, Leukopenia, Abnormal myo...	ORPHA:77259
Trisomy 1Q	Microretrognathia, Multicystic kidney dysplasia, Ventricular septal defect, Camptodactyly of fing...	ORPHA:261344
Gaba-Transaminase Deficiency	Lethargy, Retrognathia, Cerebellar hypoplasia, Death in childhood	OMIM:613163
Spinal Muscular Atrophy, Type I	Recurrent respiratory infections, Ventricular septal defect, Spinal muscular atrophy, Respiratory...	OMIM:253300
Ringed Hair Disease	Abnormal hair pattern, Fine hair	ORPHA:169
Hyperlysinuria With Hyperammonemia	Dibasicaminoaciduria, Malabsorption, Hyperammonemia, Hyperlysinuria, Lethargy, Hyperlysinemia	OMIM:238750
3P25.3 Microdeletion Syndrome	Mandibular prognathia, Skeletal muscle atrophy, Thin upper lip vermilion, Ventricular septal defe...	ORPHA:435638
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Respiratory distress, Polymicrogyria, Cerebellar hypoplasia	ORPHA:171703
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Retinal telangiectasia, Tremor, Abnormal pyramidal sign, Premature graying of hair, Intestinal bl...	OMIM:612199
Takenouchi-Kosaki Syndrome	Downturned corners of mouth, Short philtrum, Widely spaced teeth, Long philtrum, Hypospadias, Inc...	OMIM:616737
Pyruvate Dehydrogenase E1-Alpha Deficiency	Increased serum pyruvate, Neonatal respiratory distress, Ventricular septal defect, Small for ges...	ORPHA:79243
Mitochondrial Pyruvate Carrier Deficiency	Increased serum pyruvate, Thin upper lip vermilion, Hepatomegaly, Respiratory distress, Organic a...	OMIM:614741
Craniolenticulosutural Dysplasia	Brittle hair, Short stature, Posterior wedging of vertebral bodies, Coarse hair, Scoliosis, Spars...	ORPHA:50814
Doors Syndrome	Respiratory distress, Adrenal hyperplasia, Short lingual frenulum, Nephrocalcinosis, Downturned c...	ORPHA:79500
Alagille Syndrome 2	Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Hypertension, Renal tu...	OMIM:610205
Hypophosphatasia, Infantile	Recurrent respiratory infections, Elevated urine pyrophosphate, Death in infancy, Elevated plasma...	OMIM:241500
Dent Disease	Elevated circulating creatine kinase concentration, Nephrocalcinosis, Aminoaciduria, Low-molecula...	ORPHA:1652
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Death in infancy, Tricuspid regurgitation, Bicuspid aortic valve, Spina bifida, Congenital diaphr...	ORPHA:1120
Pili Torti, Early-Onset	Dry hair, Brittle hair, Coarse hair, Hair shafts flattened at irregular intervals and twisted thr...	OMIM:261900
Ebstein Malformation Of The Tricuspid Valve	Abnormal endocardium morphology, Atrial fibrillation, Sudden cardiac death, Congestive heart fail...	ORPHA:1880
Thanatophoric Dysplasia Type 2	Encephalocele, Abnormality of the kidney, Increased nuchal translucency, Patent ductus arteriosus...	ORPHA:93274
Reticular Dysgenesis	Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus	OMIM:267500
Noonan Syndrome 2	Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Short neck, Microgna...	OMIM:605275
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Ventricular septal defect, Left ventricular hypertrophy, Secundum atrial septal defect, Subvalvul...	OMIM:108900
Combined Oxidative Phosphorylation Deficiency 30	Respiratory distress, Death in infancy, Left ventricular hypertrophy, Hyperalaninemia, Failure to...	OMIM:616974
Uncombable Hair Syndrome 2	Uncombable hair, Pili canaliculi	OMIM:617251
Liver Disease, Severe Congenital	Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Micrognathia, Abnormal left ventricular fun...	OMIM:619991
Diamond-Blackfan Anemia 21	Aortic regurgitation, Short stature, Synophrys, Widow's peak, Obesity, Coarse hair, Horizontal ey...	OMIM:620072
Mowat-Wilson Syndrome	Mandibular prognathia, Cerebellar vermis hypoplasia, Bicuspid aortic valve, Urinary incontinence,...	ORPHA:2152
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Redundant neck skin, Short neck, Micrognathia, High palate, Hypocalcemia, Protein-losing enteropa...	OMIM:235255
Pili Bifurcati	Abnormal hair morphology, Abnormality of hair texture	ORPHA:720
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Sclerotic vertebral body, Ataxia, Rigidity, Kyphosis, Optic atrophy, Spastic tetraplegia, Platysp...	OMIM:618476
Mosaic Variegated Aneuploidy Syndrome 2	Aortic regurgitation, Ventricular septal defect, Decreased response to growth hormone stimulation...	OMIM:614114
Aicardi-Goutières Syndrome	Myositis, Multiple joint contractures, Diabetes mellitus, Cutis marmorata, Cardiomegaly, Raynaud ...	ORPHA:51
Mosaic Variegated Aneuploidy Syndrome	Apnea, Micrognathia, Abnormal lung lobation, Aplasia/Hypoplasia of the cerebellum, Atrial septal ...	ORPHA:1052
Barth Syndrome	Mandibular prognathia, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, ...	OMIM:302060
Romano-Ward Syndrome	Sudden cardiac death, Sinus bradycardia, Hypokalemia, Syncope, Torsade de pointes, Abnormal T-wav...	ORPHA:101016
Pseudotrisomy 13 Syndrome	Encephalocele, Ventricular septal defect, Dextrocardia, Adrenal hypoplasia, Renal agenesis, Cleft...	OMIM:264480
Immunodeficiency By Defective Expression Of Mhc Class Ii	Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormal CD4:CD8 ratio, N...	ORPHA:572
Emery-Dreifuss Muscular Dystrophy 1, X-Linked	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Sudden cardiac death...	OMIM:310300
Intellectual Developmental Disorder, X-Linked, Syndromic, 35	Mandibular prognathia, Microretrognathia, Thin upper lip vermilion, Dilation of Virchow-Robin spa...	OMIM:300998
Joubert Syndrome With Hepatic Defect	Occipital encephalocele, Multicystic kidney dysplasia, Renal insufficiency, Hepatomegaly, Cerebel...	ORPHA:1454
Nemaline Myopathy 9	Ventricular septal defect, Micrognathia, Cleft palate, Respiratory insufficiency, High palate, Ar...	OMIM:615731
Familial Cutaneous Collagenoma	Atrial septal defect, Congestive heart failure, Angina pectoris, Cardiomyopathy	ORPHA:53296
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Large posterior fontanelle, Ectopic posterior pituitary, Decreased response to growth hormone sti...	ORPHA:226307
Epidermolysis Bullosa Simplex With Pyloric Atresia	Renal dysplasia, Elevated circulating creatine kinase concentration, Oral mucosal blisters, Abnor...	ORPHA:158684
Primary Hyperoxaluria Type 1	Calcinosis, Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Abnormality of the dentit...	ORPHA:93598
Orofaciodigital Syndrome Type 5	Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl...	ORPHA:2919
X-Linked Intellectual Disability Due To Gria3 Mutations	Mandibular prognathia, Cerebellar vermis hypoplasia, Facial hypotonia, Genu recurvatum, Slender b...	ORPHA:364028
Tatton-Brown-Rahman Syndrome	Atrial septal defect, Everted upper lip vermilion, Tricuspid regurgitation, Ventricular septal de...	OMIM:615879
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Megakaryocytopenia, Amegakaryocytic thrombocytopenia, Aplastic anemia, Congenital thrombocytopenia	OMIM:605432
Trisomy 8P	Multiple joint contractures, Abnormal atrioventricular connection, Short neck, Fetal pyelectasis,...	ORPHA:264450
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia, P...	ORPHA:542306
Methimazole Embryofetopathy	Abnormal aortic morphology, Ventricular septal defect, Coarctation of aorta	ORPHA:1923
Cardiac Arrhythmia, Ankyrin-B-Related	Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope	OMIM:600919
Severe Canavan Disease	Lethargy, Optic atrophy	ORPHA:314911
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Failure to thrive, Hypervalinemia, Tachypnea, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia...	OMIM:620085
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Cerebellar atrophy, Thin upper lip vermilion, Bicuspid aortic valve, Ventricular septal defect, D...	ORPHA:329224
Pyruvate Dehydrogenase E1-Alpha Deficiency	Increased serum pyruvate, Small for gestational age, Apneic episodes precipitated by illness, fat...	OMIM:312170
Lamb-Shaffer Syndrome	Mild postnatal growth retardation, Ataxia, Optic atrophy, Fused cervical vertebrae, Thoracic kyph...	ORPHA:530983
Homocystinuria Without Methylmalonic Aciduria	Lethargy, Failure to thrive	ORPHA:622
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Ventricular hypertrophy, Adrenal hyperplasia, Ventricular septal defect, Epistaxis, Nephrolithias...	ORPHA:369929
Cerebrotendinous Xanthomatosis	Cerebellar atrophy, Optic disc pallor, Angina pectoris, Myocardial infarction, Tendon xanthomatos...	OMIM:213700
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Cardiomegaly, Cardiomyopathy, Myopathy, Left ventricular hypertrophy, Cerebral edem...	OMIM:617713
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Decreased response to growth hormone stimulation test, Patent ductus arteriosus, Deep philtrum, R...	OMIM:617260
Methemoglobinemia, Beta Type	Cyanosis, Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Cyanosis, Methemoglobinemia	OMIM:617973
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria, Patent ductus arteriosus, Supernumerary tooth, ...	ORPHA:86818
Postsynaptic Congenital Myasthenic Syndromes	Skeletal muscle atrophy, Reduced vital capacity, Cyanosis, Orthopnea, Facial palsy, Triceps weakn...	ORPHA:98913
Chime Syndrome	Ventricular septal defect, Abnormality of the kidney, Abnormal dental morphology, Abnormality of ...	ORPHA:3474
Robinow Syndrome	Dental crowding, Micrognathia, Orofacial cleft, Atrial septal defect, Webbed penis, Micropenis, F...	ORPHA:97360
Atelis Syndrome 2	Remnants of the hyaloid vascular system, Micrognathia, Diastema, Thrombocytopenia, Patent ductus ...	OMIM:620185
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects	Mandibular prognathia, Cerebellar atrophy, Tricuspid regurgitation, Optic atrophy, Retrognathia, ...	OMIM:619576
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Respiratory distress, Cachexia, Weight loss, Aminoaciduria, Proximal tubulopathy, Failure to thrive	OMIM:612075
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Anisocytosis, Cardiomegaly, Tachypnea, Hepatocellular necrosis, Death in childhood, Chronic hemol...	OMIM:618278
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Lethargy, Failure to thrive	ORPHA:79283
Autosomal Recessive Cutis Laxa Type 1	Joint subluxation, Multiple bladder diverticula, Abnormal systemic arterial morphology, Vesicoure...	ORPHA:90349
Beckwith-Wiedemann Syndrome	Mandibular prognathia, Ureteral duplication, Congenital diaphragmatic hernia, Cardiomegaly, Large...	ORPHA:116
Hyperkalemic Periodic Paralysis	Skeletal muscle atrophy, Periodic hyperkalemic paralysis, Cerebral palsy, Death in infancy, Death...	ORPHA:682
Immunodeficiency 9	Death in infancy, Respiratory insufficiency due to muscle weakness, Myopathy, Ectodermal dysplasi...	OMIM:612782
Long Qt Syndrome 3	Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ...	OMIM:603830
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Ventricular septal defect, Persistence of primary teeth, Overweight, Patent ductus arteriosus, At...	OMIM:619769
Branchiootic Syndrome 3	Branchial cyst	OMIM:608389
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Accelerated atherosclerosis, Decreased HDL cholesterol concentration, Precocious atherosclerosis,...	ORPHA:280365
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2	Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia	OMIM:611938
Insulinoma	Abnormality of the pancreatic islet cells, Fasting hyperinsulinemia, Primary hyperparathyroidism,...	ORPHA:97279
Dystonia 23	Cerebellar atrophy, Arrhythmia, Torticollis	OMIM:614860
Marshall-Smith Syndrome	Irregular dentition, Apnea, Bilateral cryptorchidism, Anteriorly placed anus, Glossoptosis, Short...	OMIM:602535
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Cerebellar atrophy, Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal s...	OMIM:254900
Microscopic Polyangiitis	Gastrointestinal hemorrhage, Glomerulopathy, Pericarditis, Renal insufficiency, Sinusitis, Epista...	ORPHA:727
Congenital Myopathy 5 With Cardiomyopathy	Elevated circulating creatine kinase concentration, Sudden cardiac death, Centrally nucleated ske...	OMIM:611705
Gm2-Gangliosidosis, Ab Variant	Poor head control, Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnorma...	OMIM:272750
Cardiospondylocarpofacial Syndrome	Carpal synostosis, Atrial septal defect, Ventricular septal defect, Tarsal synostosis, Congenital...	OMIM:157800
Microphthalmia, Syndromic 1	Bicuspid aortic valve, Dental crowding, High, narrow palate, Rectal prolapse, Orofacial cleft, Hi...	OMIM:309800
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Respiratory distress, Hepatomegaly, Median cleft lip, Accessory oral frenulum, Splenomegaly, Pate...	OMIM:617088
Inverted Duplicated Chromosome 15 Syndrome	Ventricular septal defect, Unilateral renal agenesis, Precocious puberty, Cryptorchidism, Hypogon...	ORPHA:3306
Prader-Willi Syndrome Due To Translocation	Respiratory distress, Decreased response to growth hormone stimulation test, Anterior pituitary h...	ORPHA:177907
H Syndrome	Microcytic anemia, Micropenis, Abnormality of the kidney, Cleft upper lip, Recurrent pharyngitis,...	ORPHA:168569
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2	Right bundle branch block, Elevated circulating creatine kinase concentration, Muscular dystrophy...	OMIM:613158
Cohen Syndrome	Bone spicule pigmentation of the retina, Decreased response to growth hormone stimulation test, B...	OMIM:216550
Proteus Syndrome	Decreased muscle mass, Pulmonary embolism, Neoplasm of the thymus, Abnormal lung lobation, Renal ...	ORPHA:744
Sick Sinus Syndrome 1	Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br...	OMIM:608567
Arachnoid Cyst	Back pain, Distal muscle weakness, Facial palsy, Subarachnoid hemorrhage, Spinal cord compression...	ORPHA:2356
Orofaciodigital Syndrome Type 1	Alopecia, Brittle hair, Ataxia, Tremor, Hypertension, Coarse hair, Dystonia, Sparse hair	ORPHA:2750
Beaulieu-Boycott-Innes Syndrome	Recurrent urinary tract infections, Ventricular septal defect, Unilateral renal agenesis, Microgn...	OMIM:613680
Zimmermann-Laband Syndrome 1	Delayed eruption of teeth, Aortic arch aneurysm, Mandibular prognathia, Hepatomegaly, Splenomegal...	OMIM:135500
Gorlin-Chaudhry-Moss Syndrome	Coarse hair, Short stature, Low anterior hairline, Generalized hirsutism	ORPHA:2095
Autosomal Recessive Multiple Pterygium Syndrome	Skeletal muscle atrophy, Hypoplasia of penis, Multiple pterygia, Micrognathia, Orofacial cleft, H...	ORPHA:2990
Osteopathia Striata-Cranial Sclerosis Syndrome	Delayed eruption of teeth, Facial palsy, Micrognathia, Facial hyperostosis, High, narrow palate, ...	ORPHA:2780
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:619051
Noonan Syndrome 10	Mitral stenosis, Ventricular septal defect, Short neck, Cryptorchidism, Patent ductus arteriosus,...	OMIM:616564
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Cerebellar vermis hypoplasia, Micrognathia, Atrial septal defect, Axial mal...	OMIM:274000
Zttk Syndrome	Unilateral lung agenesis, Hypoplasia of the maxilla, Flexion contracture, Downturned corners of m...	OMIM:617140
Koolen-De Vries Syndrome Due To A Point Mutation	Hand muscle atrophy, Joint dislocation, Bicuspid aortic valve, Decreased response to growth hormo...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hand muscle atrophy, Joint dislocation, Bicuspid aortic valve, Decreased response to growth hormo...	ORPHA:363958
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Decreased response to growth hormone stimulation test, Premature thelarche, Hypoplasia of the bra...	ORPHA:268261
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Broad-based gait, Distal muscle weakness, Small for gestational age, Proportionate short stature,...	ORPHA:391408
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri...	ORPHA:555874
Butyrylcholinesterase Deficiency	Congestive heart failure, Myocardial infarction, Paralysis	ORPHA:132
Frasier Syndrome	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Nephrotic syndro...	OMIM:136680
Bullous Dystrophy, Hereditary Macular Type	Acrocyanosis, Death in childhood	OMIM:302000
Posterior Urethral Valve	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye...	ORPHA:93110
Dyskeratosis Congenita, Autosomal Recessive 8	Pancytopenia, Reduced natural killer cell count, B lymphocytopenia, Bone marrow hypocellularity	OMIM:620133
Mucopolysaccharidosis Type 2	Abnormal tricuspid valve morphology, Retinal degeneration, Papilledema, Hepatomegaly, Abnormal fo...	ORPHA:580
Noonan Syndrome 1	Amegakaryocytic thrombocytopenia, Short neck, Micrognathia, High, narrow palate, High palate, Atr...	OMIM:163950
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome	Smooth philtrum, Aortic dissection, Dental crowding, Micrognathia, Bruising susceptibility, Retro...	OMIM:618343
Ventricular Tachycardia, Familial	Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death	OMIM:192605
Mirage Syndrome	Adrenal hypoplasia, Intracranial hemorrhage, Leukopenia, Microphallus, Aspiration pneumonia, Acha...	OMIM:617053
Greig Cephalopolysyndactyly Syndrome	Hypospadias, Craniosynostosis, Abnormal muscle fiber morphology, Cryptorchidism, Abnormal heart m...	OMIM:175700
Mowat-Wilson Syndrome	Widely spaced teeth, Chorioretinal coloboma, Atrial septal defect, Iris coloboma, Hypospadias, Pu...	OMIM:235730
Joubert Syndrome 18	Occipital encephalocele, Trident pelvis, Agenesis of cerebellar vermis, Ventricular septal defect...	OMIM:614815
Angioedema, Hereditary, 1	Hypoesthesia, Peripheral axonal neuropathy, Axonal degeneration, Muscle weakness	OMIM:106100
Tarp Syndrome	Meckel diverticulum, Failure to thrive, Cerebellar vermis hypoplasia, Micrognathia, Subdural hemo...	OMIM:311900
Basel-Vanagaite-Smirin-Yosef Syndrome	Mandibular prognathia, Tented upper lip vermilion, Hypospadias, Ventricular septal defect, Exagge...	ORPHA:464738
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Cerebellar atrophy, Optic disc pallor, Elevated circulating acylcarnitine concentration, Atrophy/...	OMIM:615838
Diaphanospondylodysostosis	Respiratory distress, Short neck, Myelomeningocele, Cleft palate, Multiple renal cysts, Abnormal ...	ORPHA:66637
C Syndrome	Hepatomegaly, Ventricular septal defect, Accessory oral frenulum, Micrognathia, Cryptorchidism, P...	OMIM:211750
Osteogenesis Imperfecta	Abnormality of dental color, Micrognathia, Osteoarthritis, Flexion contracture, Brain stem compre...	ORPHA:666
Grange Syndrome	Bicuspid aortic valve, Carotid artery stenosis, Renovascular hypertension, Renal artery stenosis,...	OMIM:602531
Trichothiodystrophy 4, Nonphotosensitive	Brittle hair, Sparse eyelashes, Concave nail, Abnormality of hair texture, Optic atrophy, Decreas...	OMIM:234050
Bilateral Striopallidodentate Calcinosis	Hepatomegaly, Subcutaneous hemorrhage, Abnormality of neuronal migration, Thrombocytopenia	ORPHA:1980
Sim1-Related Prader-Willi-Like Syndrome	Xerostomia, Downturned corners of mouth, Chorioretinal hypopigmentation, Premature adrenarche, Mi...	ORPHA:398079
Congenital Disorder Of Glycosylation, Type Iu	Respiratory distress, Thin upper lip vermilion, Death in infancy, Neonatal respiratory distress, ...	OMIM:615042
Nodular Neuronal Heterotopia	Abnormality of neuronal migration	ORPHA:2149
Thanatophoric Dysplasia	Abnormality of the kidney, Abnormal sacroiliac joint morphology, Increased nuchal translucency, P...	ORPHA:2655
Loeys-Dietz Syndrome 3	Tortuous cerebral arteries, Bicuspid aortic valve, Osteoarthritis, Knee osteoarthritis, High pala...	OMIM:613795
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Microretrognathia, Hypospadias, Small for gestational age, Cryptorchidism, Hyperammonemia, Respir...	OMIM:614052
Lymphedema-Distichiasis Syndrome	Glomerulopathy, Recurrent urinary tract infections, Diabetes mellitus, Proteinuria, Cleft upper l...	ORPHA:33001
Incisors, Lower Central, Absence Of	Agenesis of mandibular central incisor	OMIM:147330
Dyskeratosis Congenita, Autosomal Dominant 3	Pancytopenia, Aplastic anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia	OMIM:613990
Central Incisors, Absence Of	Agenesis of central incisor	OMIM:302400
Severe X-Linked Intellectual Disability, Gustavson Type	Dilated fourth ventricle, Congenital hip dislocation, Ventricular septal defect, Small for gestat...	ORPHA:3078
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Ventricular septal defect, Cryptorchidism, Aortic root aneurysm, Abdominal obesity, Atrial septal...	OMIM:301039
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Respiratory distress, Myositis, Abnormal blood ion concentration, Tubulointerstitial nephritis, I...	ORPHA:37042
Kawasaki Disease	Glossitis, Pericarditis, Proteinuria, Abnormal heart valve morphology, Jaundice, Myocarditis, Con...	ORPHA:2331
Microphthalmia With Linear Skin Defects Syndrome	Respiratory distress, Chorioretinal dysplasia, Congenital diaphragmatic hernia, Micrognathia, Epi...	ORPHA:2556
Neuralgic Amyotrophy	Scapular winging, Respiratory insufficiency, Cleft palate, Narrow mouth, Acrocyanosis	ORPHA:2901
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Thoracic aortic aneurysm, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Part...	OMIM:619657
Neutral Lipid Storage Myopathy	Short stature, Progressive distal muscle weakness, Hand muscle weakness, Fatty replacement of ske...	ORPHA:98908
1P36 Deletion Syndrome	Hypoplasia of penis, Abnormality of the spleen, Renal cyst, Abnormality of the neck, Hypothyroidi...	ORPHA:1606
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Cerebellar atrophy, Tricuspid regurgitation, Bicuspid aortic valve, Ventric...	OMIM:620066
Arterial Tortuosity Syndrome	Carotid artery dissection, Congenital diaphragmatic hernia, Micrognathia, Flexion contracture, Hi...	OMIM:208050
Aicardi-Goutieres Syndrome 1	Hepatomegaly, Diabetes insipidus, Petechiae, Cerebellar calcifications, Splenomegaly, Vasculitis,...	OMIM:225750
Proteus Syndrome	Splenomegaly, Facial hyperostosis, Open mouth, Lymphangioma, Mandibular hyperostosis, Venous malf...	OMIM:176920
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Abnormality of neuronal migration	OMIM:618709
Propionic Acidemia	Hepatomegaly, Hyperammonemia, Cardiomyopathy, Organic aciduria, Arrhythmia	ORPHA:35
Autosomal Dominant Cutis Laxa	Redundant neck skin, Genu recurvatum, Emphysema, Prematurely aged appearance, Bronchiectasis, Pye...	ORPHA:90348
Branchiootic Syndrome 1	Branchial fistula	OMIM:602588
Neurodegeneration With Brain Iron Accumulation 2B	Cerebellar atrophy, Chorea, Babinski sign, Optic atrophy, Cerebral atrophy, Dysmetria, Gait ataxi...	OMIM:610217
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Arrhythmia, Camptodactyly	OMIM:618453
Hypermobile Ehlers-Danlos Syndrome	Joint dislocation, Apnea, Venous insufficiency, Osteoarthritis, Abnormality of the gingiva, Gingi...	ORPHA:285
Respiratory Distress Syndrome In Premature Infants	Atelectasis, Pulmonary edema	OMIM:267450
Alkaptonuria	Arthropathy, Vertebral fusion, Mitral valve calcification, Coronary artery calcification, Aortic ...	OMIM:203500
Developmental And Epileptic Encephalopathy 101	Third degree atrioventricular block, Apnea, Limb joint contracture, Bradycardia	OMIM:619814
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Cerebellar atrophy, Hemolytic anemia, Dilation of Virchow-Robin spaces, Elevated circulating crea...	OMIM:175780
Classical Ehlers-Danlos Syndrome	Abnormality of the temporomandibular joint, Osteoarthritis, Rectal prolapse, Shoulder dislocation...	ORPHA:287
Systemic Capillary Leak Syndrome	Pericarditis, Renal insufficiency, Abnormal renal tubule morphology, Rhinorrhea, Myocarditis, Leu...	ORPHA:188
Danon Disease	Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Lower limb amyotrophy, Myocardial fibr...	OMIM:300257
Hirschsprung Disease-Ganglioneuroblastoma Syndrome	Prolonged QT interval, Arrhythmia, Aganglionic megacolon	ORPHA:2151
Whim Syndrome	Lymphopenia, Abnormal small intestine morphology, Sinusitis, Severe periodontitis, Pneumonia, Res...	ORPHA:51636
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Death in infancy, Hepatomegaly, Proteinuria, Ventricular septal defect, Conjugated hyperbilirubin...	OMIM:613404
Cockayne Syndrome A	Mandibular prognathia, Micropenis, Hepatomegaly, Retinal atrophy, Prematurely aged appearance, Cr...	OMIM:216400
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Diffuse cerebral atrophy, Postnatal growth retardation, Contracture of the distal interphalangeal...	ORPHA:83617
Intellectual Disability And Myopathy Syndrome	Thin upper lip vermilion, Congenital hip dislocation, Cutis marmorata, Achilles tendon contractur...	OMIM:619719
Cerebrofacioarticular Syndrome	Irregular dentition, Anal stenosis, Cerebellar vermis hypoplasia, Hypospadias, Micrognathia, Hypo...	ORPHA:314679
Dyskeratosis Congenita, Autosomal Recessive 1	Pancytopenia, Aplastic anemia, Bone marrow hypocellularity, Thrombocytopenia	OMIM:224230
3Q29 Microdeletion Syndrome	Bipolar affective disorder, Hypospadias, Dental crowding, Abnormality of the dentition, Patent du...	ORPHA:65286
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation	Fragile nails, Fine hair	ORPHA:500166
Hereditary Folate Malabsorption	Pancytopenia, Eosinophilia, Thrombocytopenia, Megaloblastic anemia	ORPHA:90045
Progressive Familial Heart Block, Type Ib	Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ...	OMIM:604559
Lig4 Syndrome	Leukocytosis, Abnormal bone marrow cell morphology, Pancytopenia, Acute leukemia	ORPHA:99812
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Lethargy, Apneic episodes in infancy, Generalized amyotrophy, 2-ethylhydracylic aciduria	OMIM:610006
Fanconi Anemia, Complementation Group E	Pancytopenia, Reticulocytopenia, Abnormal heart morphology, Anemia, Neutropenia, Leukemia, Thromb...	OMIM:600901
Acrokeratoderma, Hereditary Papulotranslucent	Fine hair	OMIM:101840
Auriculocondylar Syndrome 2A	Respiratory distress, Dental crowding, Apnea, Micrognathia, Narrow mouth, Dental malocclusion, Te...	OMIM:614669
Synaptic Congenital Myasthenic Syndromes	Mandibular prognathia, Skeletal muscle atrophy, Scapular winging, Abnormality of the knee, Respir...	ORPHA:98915
Lissencephaly 3	Cerebellar vermis hypoplasia, Periventricular laminar heterotopia, Pachygyria, Gray matter hetero...	OMIM:611603
Long Qt Syndrome 12	Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes	OMIM:612955
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Skeletal muscle atrophy, Tachycardia, Glycogen accumulation in muscle fiber lysosomes, Progressiv...	ORPHA:368
Miller-Dieker Lissencephaly Syndrome	Delayed eruption of teeth, Thick upper lip vermilion, Thin upper lip vermilion, Failure to thrive...	OMIM:247200
Horner Syndrome, Congenital	Congenital Horner syndrome, Paralysis	OMIM:143000
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Large for gestational age, Webbed neck, Short philtrum, Widely spaced teeth, Chorioretinal colobo...	OMIM:280000
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Myotonia, Elevated circulating creatine kinase concentration, Atrioventricular block, Decreased c...	ORPHA:98855
Holocarboxylase Synthetase Deficiency	Respiratory distress, Tachypnea, Hyperammonemia, Weight loss, Organic aciduria, Lethargy, Thrombo...	ORPHA:79242
Hypomyelination Neuropathy-Arthrogryposis Syndrome	Respiratory distress	ORPHA:2680
Branchiogenic Deafness Syndrome	Branchial cyst, Branchial fistula, Osteolytic defects of the distal phalanges of the hand, Short ...	ORPHA:50815
Parkes Weber Syndrome	Prominent superficial blood vessels, Cerebral arteriovenous malformation, Spinal arteriovenous ma...	ORPHA:90307
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Cerebellar atrophy, Skeletal muscle atrophy, Hypospadias, Small for gestational age, Hyperammonem...	OMIM:615471
Evans Syndrome	Autoimmune hemolytic anemia, Epistaxis, Autoimmune thrombocytopenia, Dyspnea, Jaundice, Neutropen...	ORPHA:1959
Kagami-Ogata Syndrome	Hepatomegaly, Ventricular septal defect, Diastasis recti, Micrognathia, Hypoplasia of the maxilla...	OMIM:608149
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome	Acrocyanosis	ORPHA:86918
Recombinant 8 Syndrome	Abnormality of the dentition, Ventricular septal defect, Camptodactyly of finger, Abnormality of ...	ORPHA:96167
Multiple System Atrophy 1, Susceptibility To	Skeletal muscle atrophy, Orthostatic hypotension, Ataxia, Parkinsonism, Tremor, Rigidity, Babinsk...	OMIM:146500
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi...	OMIM:617052
Developmental And Epileptic Encephalopathy 92	Lethargy	OMIM:617829
Surfactant Metabolism Dysfunction, Pulmonary, 1	Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Ground-glass opacification, Dys...	OMIM:265120
Sandhoff Disease	Skeletal muscle atrophy, Orthostatic hypotension, Hepatomegaly, Urinary incontinence, Cardiomegal...	OMIM:268800
Developmental And Epileptic Encephalopathy 66	Thin upper lip vermilion, Cerebellar vermis hypoplasia, Ventricular septal defect, Dextrocardia, ...	OMIM:618067
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Umbilical hernia, Pancytopenia	ORPHA:85321
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Optic disc pallor, Death in infancy, Hepatomegaly, Ventricular septal defect, Ectopic kidney, Cry...	OMIM:613730
Renal Nutcracker Syndrome	Orthostatic hypotension, Tachycardia, Proteinuria, Vulval varicose vein, Weight loss, Hematuria, ...	ORPHA:71273
Familial Isolated Hypoparathyroidism	Delayed eruption of teeth, Hypoparathyroidism, Abnormal dental enamel morphology, Myopathy, Abnor...	ORPHA:2238
Rabson-Mendenhall Syndrome	Mandibular prognathia, Dental crowding, Fasting hyperinsulinemia, Nephrocalcinosis, Premature gra...	ORPHA:769
Verloove Vanhorick-Brubakk Syndrome	Tarsal synostosis, Micrognathia, Cryptorchidism, Abnormality of the parathyroid gland, Non-midlin...	ORPHA:3429
Emphysema, Congenital Lobar	Respiratory distress	OMIM:130710
Kufor-Rakeb Syndrome	Torticollis, Dystonia, Ataxia, Parkinsonism, Akinesia, Tremor, Paraparesis, Rigidity, Babinski si...	OMIM:606693
3Mc Syndrome 1	Conjunctival telangiectasia, Ventricular septal defect, Diastasis recti, Supernumerary nipple, De...	OMIM:257920
Fanconi Anemia	Micrognathia, Leukopenia, High palate, Atrial septal defect, Abnormality of the hypothalamus-pitu...	ORPHA:84
Cranioectodermal Dysplasia 2	Short neck, Micrognathia, Renal cyst, Ectodermal dysplasia, Fused teeth, High palate, Widely spac...	OMIM:613610
Heart-Hand Syndrome, Slovenian Type	Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm...	ORPHA:168796
Trichohepatoenteric Syndrome 1	Villous atrophy, Hypoalbuminemia, Bifid uvula, Hepatomegaly, Hypospadias, Increased mean platelet...	OMIM:222470
Acquired Methemoglobinemia	Respiratory distress, Tachycardia, Cyanosis, Dyspnea, Hypoxemia, Syncope, Palpitations, Arrhythmi...	ORPHA:464453
Systemic Sclerosis	Elevated circulating creatine kinase concentration, Flexion contracture, Intestinal bleeding, Int...	ORPHA:90291
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Ventricular septal defect, Hypospadias, Supernumerary nipple, Selective tooth agenesis, Hypoplasi...	OMIM:106260
Loeys-Dietz Syndrome 5	Decreased muscle mass, Tented upper lip vermilion, Osteoarthritis, High palate, Atrial septal def...	OMIM:615582
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Cerebellar vermis hypoplasia, Ventricular septal defect, Splenomegaly, Chronic kidn...	OMIM:615630
Transketolase Deficiency	Ventricular septal defect, Abnormal coronary artery course, Patent ductus arteriosus, Secondary a...	ORPHA:488618
Microcephaly-Capillary Malformation Syndrome	Atrial septal defect, Ventricular septal defect, Small for gestational age, Hypoplasia of the max...	OMIM:614261
Beare-Stevenson Cutis Gyrata Syndrome	Respiratory distress, Natal tooth, Redundant neck skin, Hypospadias, Craniosynostosis, Optic atro...	OMIM:123790
Muscular Hypertonia, Lethal	Respiratory distress, Umbilical hernia, Pneumonia, Death in infancy	OMIM:254120
Eec Syndrome	Hypospadias, Decreased response to growth hormone stimulation test, Abnormal dental enamel morpho...	ORPHA:1896
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Thin upper lip vermilion, Dental crowding, Pierre-Robin sequence, Spina bifida occulta, Anterior ...	OMIM:617877
Mitochondrial Complex I Deficiency, Nuclear Type 4	Increased serum pyruvate, Lethargy, Apnea, Death in childhood	OMIM:618225
Menkes Disease	Gastrointestinal hemorrhage, Tarsal synostosis, Micrognathia, Venous insufficiency, Malabsorption...	ORPHA:565
Venular Insufficiency, Systemic	Cyanosis	OMIM:192700
Sulfhemoglobinemia, Congenital	Cyanosis	OMIM:185460
Alkuraya-Kucinskas Syndrome	Dandy-Walker malformation, Micrognathia, Pericardial effusion, Micropenis, Gray matter heterotopi...	OMIM:617822
Hidrotic Ectodermal Dysplasia	Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ...	ORPHA:189
Hereditary Renal Hypouricemia	Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Mild proteinuri...	ORPHA:94088
Chromosome 6Pter-P24 Deletion Syndrome	Dandy-Walker malformation, Tented upper lip vermilion, Ventricular septal defect, Dental crowding...	OMIM:612582
Pediatric Systemic Lupus Erythematosus	Dark urine, Renal insufficiency, Myositis, Proteinuria, Raynaud phenomenon, Pericardial effusion,...	ORPHA:93552
Au-Kline Syndrome	Downturned corners of mouth, Oligodontia, High palate, Vesicoureteral reflux, Bifid uvula, Promin...	OMIM:616580
Congenital Muscular Dystrophy Without Intellectual Disability	Cerebellar atrophy, Reduced muscle fiber alpha dystroglycan, Fatty replacement of skeletal muscle...	ORPHA:370980
Yellow Fever	Anuria, Elevated circulating creatine kinase concentration, Internal hemorrhage, Abnormal bleedin...	ORPHA:99829
Eng-Strom Syndrome	Abnormal cardiac septum morphology, Ventricular septal defect	ORPHA:1937
Autoimmune Pulmonary Alveolar Proteinosis	Abnormal circulating protein concentration, Cyanosis, Crazy paving pattern, Crackles, Dyspnea, In...	ORPHA:747
Chromosome 14Q11-Q22 Deletion Syndrome	Prominent metopic ridge, Failure to thrive, Ventricular septal defect, Anterior pituitary hypopla...	OMIM:613457
Riboflavin Deficiency	Elevated circulating acylcarnitine concentration, Lethargy, Dicarboxylic aciduria	OMIM:615026
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Respiratory distress, Hepatomegaly, Respiratory failure requiring assisted ventilation, Ragged-re...	ORPHA:254864
Mucopolysaccharidosis, Type Ii	Papilledema, Severe short stature, Short stature, Short neck, Kyphosis, Congestive heart failure,...	OMIM:309900
Keutel Syndrome	Recurrent respiratory infections, Ventricular septal defect, Pulmonary artery stenosis, Optic atr...	ORPHA:85202
Hypokalemic Periodic Paralysis	Abnormal muscle fiber morphology, Paralysis, Episodic flaccid weakness, Impaired myocardial contr...	ORPHA:681
X-Linked Lissencephaly With Abnormal Genitalia	Death in infancy, Hypoplasia of penis, Ventricular septal defect, Aganglionic megacolon, Microgna...	ORPHA:452
Autosomal Recessive Spastic Paraplegia Type 25	Paraparesis, Spastic paraplegia, Cervical spondylosis, Abnormal lumbar spine morphology, Herniati...	ORPHA:101005
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Methylmalonic acidemia, Hypomethioninemia, Renal insufficiency, Smooth philtrum, Proteinuria, Meg...	OMIM:277400
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Cerebellar atrophy, Broad-based gait, Dystonia, Short stature, Small for gestational age, Failure...	OMIM:618891
Odontochondrodysplasia	Delayed eruption of teeth, Death in infancy, Respiratory distress, Patent ductus arteriosus, Retr...	ORPHA:166272
Chromosome 1P36 Deletion Syndrome, Distal	Bicuspid aortic valve, Ectopic kidney, Abnormal lung lobation, Orofacial cleft, High palate, Atri...	OMIM:607872
Adams-Oliver Syndrome	Gastrointestinal hemorrhage, Encephalocele, Failure to thrive, Cutis marmorata, Abnormal pulmonar...	ORPHA:974
Fanconi Anemia, Complementation Group A	Pancytopenia, Reticulocytopenia, Abnormal heart morphology, Anemia, Neutropenia, Leukemia, Thromb...	OMIM:227650
Fructose-1,6-Bisphosphatase Deficiency	Hepatomegaly, Tachycardia, Increased urinary glycerol, Apnea, Dyspnea, Lethargy, Hyperventilation	OMIM:229700
Intellectual Developmental Disorder, X-Linked 12	Increased body mass index, Cerebellar vermis hypoplasia, Small for gestational age, Cryptorchidis...	OMIM:300957
Gaucher Disease, Perinatal Lethal	Respiratory distress, Apnea, Cardiomegaly, Micrognathia, Neonatal death, Hepatomegaly, Hepatosple...	OMIM:608013
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Smooth philtrum, Supernumerary nipple, Cryptorchidism, Arteria lusoria, Obesity, Heart murmur, An...	OMIM:618653
Burn-Mckeown Syndrome	Mandibular prognathia, Ventricular septal defect, Unilateral renal agenesis, Micrognathia, Cleft ...	OMIM:608572
Distal 22Q11.2 Microduplication Syndrome	Mandibular prognathia, Micrognathia, High palate, Short philtrum, Camptodactyly of toe, Long phil...	ORPHA:261337
Colchicine Poisoning	Hyponatremia, Respiratory distress, Renal insufficiency, Congestive heart failure, Myocarditis, L...	ORPHA:31824
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Microretrognathia, Neonatal respiratory distress, Spinal muscular atrophy, Secundum atrial septal...	OMIM:616866
Simpson-Golabi-Behmel Syndrome, Type 1	Mandibular prognathia, Cerebellar vermis hypoplasia, Congenital diaphragmatic hernia, Abnormal lu...	OMIM:312870
Familial Nasal Acilia	Atelectasis, Recurrent upper respiratory tract infections, Bronchiectasis	ORPHA:922
Shwachman-Diamond Syndrome	Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane...	ORPHA:811
Xq21 Microdeletion Syndrome	Abnormal chorioretinal morphology, Decreased response to growth hormone stimulation test, Chorior...	ORPHA:1435
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Thickened nuchal skin fold, Redundant neck skin, Mitral atresia, Patent ductus arteriosus, Optic ...	OMIM:618164
Ciliary Dyskinesia, Primary, 1	Pneumonia, Situs inversus totalis, Atelectasis, Asplenia, Absent frontal sinuses, Absent outer dy...	OMIM:244400
Congenital Disorder Of Glycosylation, Type Ix	Cerebellar atrophy, Respiratory distress, Cryptorchidism, Optic atrophy, Death in childhood, Micr...	OMIM:615597
Spinocerebellar Ataxia Type 3	Progressive external ophthalmoplegia, Skeletal muscle atrophy, Abnormal pyramidal sign, Vocal cor...	ORPHA:98757
Familial Exudative Vitreoretinopathy	Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti...	ORPHA:891
Microcephaly-Cardiomyopathy Syndrome	Abnormality of retinal pigmentation, Dilated cardiomyopathy, Ventricular septal defect, High, nar...	ORPHA:2515
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Mandibular prognathia, Skeletal muscle atrophy, Death in infancy, Respiratory distress, Cerebral ...	OMIM:620278
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8	Amyotrophic lateral sclerosis, Global brain atrophy	OMIM:619132
Hyperparathyroidism, Transient Neonatal	Respiratory distress, Hyperparathyroidism, Wide cranial sutures, Unilateral renal agenesis, Paten...	OMIM:618188
Mandibuloacral Dysplasia With Type B Lipodystrophy	Death in early adulthood, Prominent superficial veins, Decreased adipose tissue around neck, Dent...	OMIM:608612
Female Infertility Due To Oocyte Meiotic Arrest	Abnormal spermatogenesis, Oocyte arrest at metaphase I, Abnormal meiosis, Female infertility	ORPHA:488191
Osteopetrosis, Autosomal Recessive 1	Splenomegaly, Thrombocytopenia, Pancytopenia, Anemia	OMIM:259700
Meckel Syndrome, Type 1	Occipital encephalocele, Adrenal hypoplasia, Short neck, Asplenia, Micrognathia, Lobulated tongue...	OMIM:249000
Kearns-Sayre Syndrome	Hypoparathyroidism, Sideroblastic anemia, Diabetes mellitus, Ragged-red muscle fibers, Primary ad...	OMIM:530000
Arima Syndrome	Cerebellar vermis hypoplasia, Brainstem dysplasia, Tachypnea, Hypoplasia of the brainstem, Nephro...	OMIM:243910
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropenia, Autoimmune thrombocytopenia, Sple...	OMIM:614700
Unilateral Polymicrogyria	Cyanosis, Apnea, Epistaxis, Pulmonary arteriovenous malformation, Perisylvian polymicrogyria, Abn...	ORPHA:268943
Leigh Syndrome	Skeletal muscle atrophy, Multiple joint contractures, Complex organic aciduria, Abnormal optic ne...	ORPHA:506
Mitochondrial Dna Depletion Syndrome 11	Cerebellar atrophy, Hypergonadotropic hypogonadism, Elevated circulating creatine kinase concentr...	OMIM:615084
Diamond-Blackfan Anemia 7	Small hypothenar eminence, Macrocytic anemia, Ventricular septal defect, Secundum atrial septal d...	OMIM:612562
Long Qt Syndrome 8	Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int...	OMIM:618447
Combined Oxidative Phosphorylation Deficiency 23	Congestive heart failure, Dilated cardiomyopathy, Arrhythmia, Hypertrophic cardiomyopathy, Failur...	OMIM:616198
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ty...	OMIM:605809
3-Hydroxyisobutyric Aciduria	Aminoaciduria, Failure to thrive, Abnormality of neuronal migration	OMIM:236795
Congenital Disorder Of Glycosylation, Type Im	Death in infancy, Increased circulating free fatty acid level, Dilated cardiomyopathy, Bradycardi...	OMIM:610768
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Atrial septal defect, Failure to thrive, Bicuspid aortic valve, Decreased serum creatinine, Recur...	OMIM:617744
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Hypomethioninemia, Apnea, Lower limb muscle weakness, Optic atrophy, Hyperhomocystinemia, Cystath...	ORPHA:395
Schinzel-Giedion Syndrome	Respiratory distress, Short neck, Micrognathia, Abnormality of the gingiva, Renal cyst, Anteriorl...	ORPHA:798
Subaortic Stenosis-Short Stature Syndrome	Short neck, Micrognathia, Obesity, Membranous subvalvular aortic stenosis, Respiratory insufficie...	ORPHA:3191
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v...	OMIM:187300
Long Qt Syndrome 5	Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven...	OMIM:613695
Thymic Neuroendocrine Tumor	Calcium nephrolithiasis, Neoplasm of the thymus, Prominent veins on trunk, Pituitary prolactin ce...	ORPHA:97289
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome	Abnormal social behavior	ORPHA:436151
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant	Scapular winging, Elevated circulating creatine kinase concentration, Centrally nucleated skeleta...	OMIM:612999
Von Hippel-Lindau Disease	Hypertensive retinopathy, Myocardial infarction, Pancreatic endocrine tumor, Adrenal pheochromocy...	ORPHA:892
Multiple Endocrine Neoplasia Type 2	Elevated circulating parathyroid hormone level, Pheochromocytoma, Ganglioneuromatosis, Elevated u...	ORPHA:653
Ritscher-Schinzel Syndrome 2	Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Low posterior hairline, Pulm...	OMIM:300963
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome	Cryptorchidism, Patent ductus arteriosus, Subvalvular aortic stenosis	ORPHA:1338
Refsum Disease	Skeletal muscle atrophy, Renal insufficiency, Abnormality of retinal pigmentation, Heart block, S...	ORPHA:773
Sickle Cell Disease	Hemolytic anemia, Renal insufficiency, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Sp...	OMIM:603903
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Pancytopenia, Abnormal lymphocyte count, Thrombocytopenia, Abnormal natural killer cell count, He...	ORPHA:79124
Cryptogenic Organizing Pneumonia	Respiratory distress, Bronchial breath sound, Neutrophilia, Cyanosis, Elevated circulating C-reac...	ORPHA:1302
Sub-Cortical Nodular Heterotopia	Polymicrogyria, Subcortical heterotopia, Abnormality of neuronal migration	ORPHA:101029
Benign Samaritan Congenital Myopathy	Internally nucleated skeletal muscle fibers, Centrally nucleated skeletal muscle fibers, Abnormal...	ORPHA:324581
Fetal Trimethadione Syndrome	Ventricular septal defect, Hypospadias, Micrognathia, High palate, Transposition of the great art...	ORPHA:1913
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Congenital diaphragmatic hernia, Short neck, Cardiomegaly, Micrognathia, M...	OMIM:245600
Phosphoserine Aminotransferase Deficiency	Death in infancy, Cerebellar vermis hypoplasia, Hypoglycinemia, Apnea, Hyposerinemia, Cyanotic ep...	OMIM:610992
Myotonic Dystrophy 2	Handgrip myotonia, Tachycardia, Myotonia, Elevated circulating creatine kinase concentration, Pre...	OMIM:602668
Retinoschisis 1, X-Linked, Juvenile	Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Macular atrophy, Mizuo p...	OMIM:312700
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Foam cells, Elevated pro...	OMIM:619802
Chudley-Mccullough Syndrome	Gray matter heterotopia, Polymicrogyria, Cerebellar hypoplasia, Cerebellar dysplasia	OMIM:604213
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Cerebellar atrophy, Optic disc pallor, Macular atrophy, Periventricular heterotopia, Micrognathia...	OMIM:616171
Familial Mediterranean Fever	Pericarditis, Intestinal obstruction, Proteinuria, Myocardial infarction, Malabsorption, Orchitis...	ORPHA:342
Roifman Syndrome	Hip contracture, Noncompaction cardiomyopathy, Thin upper lip vermilion, Ventricular septal defec...	OMIM:616651
Tracheobronchopathia Osteochondroplastica	Recurrent respiratory infections, Pneumonia, Bronchitis, Atelectasis, Recurrent pneumonia	ORPHA:3348
2P15P16.1 Microdeletion Syndrome	Aortic regurgitation, Recurrent respiratory infections, Lower limb spasticity, Camptodactyly of f...	ORPHA:261349
Hereditary Liability to Pressure Palsies (HNPP)	Abnormal motor neuron morphology, Motor conduction block	DECIPHER:31
Fanconi Anemia, Complementation Group D2	Pancytopenia, Patent ductus arteriosus, Reticulocytopenia, Abnormal heart morphology, Anemia, Bon...	OMIM:227646
Pgm3-Cdg	Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, High palate, Neutropenia, Decreased propor...	ORPHA:443811
Amyloidosis, Hereditary, Transthyretin-Related	Urinary incontinence, Cardiomegaly, Amyloid deposition in the vitreous humor, Stroke-like episode...	OMIM:105210
Retinoblastoma	Abnormality of retinal pigmentation, Rhabdomyosarcoma, Subretinal pigment epithelium hemorrhage, ...	ORPHA:790
Myasthenic Syndrome, Congenital, 6, Presynaptic	Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap...	OMIM:254210
Fanconi Anemia, Complementation Group C	Pancytopenia, Ventricular septal defect, Reticulocytopenia, Anemia, Bone marrow hypocellularity, ...	OMIM:227645
Lymphatic Malformation 6	Genital edema, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Splenomegaly, Polyhydr...	OMIM:616843
Chondrodysplasia Punctata, Autosomal Dominant	Hip contracture, Moderate postnatal growth retardation, Knee flexion contracture, Coarse hair, Sc...	OMIM:118650
Familial Hypoaldosteronism	Hyponatremia, Orthostatic hypotension, Renal salt wasting, Decreased urinary potassium, Hypovolem...	ORPHA:427
Congenital Muscular Dystrophy Due To Lmna Mutation	Skeletal muscle atrophy, Death in infancy, Cachexia, Congestive heart failure, Flexion contractur...	ORPHA:157973
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Ventricular septal defect, Abnormal localization of kidney, Mitral regurgitation, Abnormal cardia...	ORPHA:83473
White-Sutton Syndrome	Mandibular prognathia, Congenital diaphragmatic hernia, Short neck, Micrognathia, Downturned corn...	OMIM:616364
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Hypospadias, Dental crowding, Tracheobronchomalacia, Pierre-Robin sequence, Cleft palate, Oligodo...	OMIM:619184
Congenital Enterovirus Infection	Abnormal bleeding, Respiratory distress, Abnormal macrophage morphology, Pericardial effusion, My...	ORPHA:292
Ataxia-Telangiectasia	Conjunctival telangiectasia, Failure to thrive, Diabetes mellitus, Female hypogonadism, Sinusitis...	OMIM:208900
Marfan Syndrome	Skeletal muscle atrophy, Dental crowding, Limited elbow movement, Micrognathia, High, narrow pala...	ORPHA:558
X-Linked Adrenoleukodystrophy	Somatic sensory dysfunction, Incoordination, Paralysis, Paraparesis, Progressive spastic parapare...	ORPHA:43
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Myocardial necrosis, Pancytopenia, Persistence of hemoglobin F, Anemia, N...	OMIM:260400
Metachromatic Leukodystrophy, Late Infantile Form	Decreased nerve conduction velocity, Babinski sign, Optic atrophy, Spasticity, Gait ataxia, Clums...	ORPHA:309256
Pheochromocytoma	Tachycardia, Hypertensive retinopathy, Proteinuria, Hypercalcemia, Cerebral hemorrhage, Elevated ...	OMIM:171300
Meier-Gorlin Syndrome 7	Urethral stricture, Heart block, Anteriorly placed anus, Chiari type I malformation, High palate,...	OMIM:617063
Methylmalonic Aciduria, Cblb Type	Thrombocytopenia, Pancytopenia, Anemia, Neutropenia	OMIM:251110
Primary Sjögren Syndrome	Normocytic anemia, Myositis, Abnormal pulmonary thoracic imaging finding, Bronchitis, Nonproducti...	ORPHA:289390
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Flexion contracture, Cardiomyopathy, Myopathy, Ethylmalonic aciduria, Weakness of facial musculat...	OMIM:201470
Orofaciodigital Syndrome Type 14	Microretrognathia, Dilated fourth ventricle, Ventricular septal defect, Accessory oral frenulum, ...	ORPHA:434179
Hereditary Coproporphyria	Hyponatremia, Dark urine, Tachycardia, Proximal muscle weakness in upper limbs, Abnormal circulat...	ORPHA:79273
Hallermann-Streiff Syndrome	Selective tooth agenesis, Micrognathia, High, narrow palate, High palate, Chorioretinal coloboma,...	OMIM:234100
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Ventricular hypertrophy, Hepatomegaly, Elevated circulating creatine kinase concentration, Elevat...	ORPHA:228305
Basel-Vanagaite-Smirin-Yosef Syndrome	Tented upper lip vermilion, Hypospadias, Ventricular septal defect, Recurrent pneumonia, Cleft pa...	OMIM:616449
Weaver Syndrome	Deep-set nails, Abnormal fingernail morphology, Camptodactyly of finger, Thin nail, Hypoplastic t...	ORPHA:3447
Non-Functioning Paraganglioma	Paraganglioma of head and neck, Cerebral hemorrhage, Tremor, Congestive heart failure, Cranial ne...	ORPHA:94080
Mercury Poisoning	Respiratory distress, Tachycardia, Dyspnea, Hypertension, Hypokalemia, Interstitial pneumonitis, ...	ORPHA:330021
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Ventricular septal defect, Secundum atrial septal defect, Coarctation of aorta, Perimembranous ve...	OMIM:600987
Infantile Liver Failure Syndrome 2	Jaundice, Hyperammonemia, Cardiomyopathy, Prolonged prothrombin time, Lethargy	OMIM:616483
Osteopathia Striata With Cranial Sclerosis	Dental crowding, Apnea, Micrognathia, Craniofacial osteosclerosis, High palate, Atrial septal def...	OMIM:300373
Tick-Borne Encephalitis	Speech apraxia, Skeletal muscle atrophy, Somatic sensory dysfunction, Incoordination, Back pain, ...	ORPHA:297
Fucosidosis	Recurrent respiratory infections, Absent/hypoplastic paranasal sinuses, Hepatomegaly, Failure to ...	OMIM:230000
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Failure to thrive, Patent ductus arteriosus, Hip dislocation, Nephrocalcinosis, Joint contracture...	OMIM:618005
Lig4 Syndrome	Acute lymphoblastic leukemia, Pancytopenia, Thrombocytopenia	OMIM:606593
Alpers-Huttenlocher Syndrome	Ataxia, Paraparesis, Choreoathetosis, Myoclonus, Progressive spasticity, Spastic paraparesis, Spa...	ORPHA:726
Occipital Horn Syndrome	Orthostatic hypotension, Kyphosis, Growth delay, Coarse hair, Platyspondyly, Pili torti	OMIM:304150
Teebi Hypertelorism Syndrome 1	Natal tooth, Thin upper lip vermilion, Ventricular septal defect, Dental crowding, Sagittal crani...	OMIM:145420
Cerebral Creatine Deficiency Syndrome 2	Lower limb spasticity, Ataxia, Tremor, Paraparesis, Rigidity, Hypertonia, Myoclonus, Progressive ...	OMIM:612736
Melnick-Needles Syndrome	Delayed eruption of teeth, Recurrent respiratory infections, Craniofacial hyperostosis, Micrognat...	ORPHA:2484
Hereditary Methemoglobinemia	Cerebellar atrophy, Cyanosis, Small for gestational age, Lip discoloration, Methemoglobinemia, Ex...	ORPHA:621
Coffin-Siris Syndrome	Delayed eruption of teeth, Thin upper lip vermilion, Dandy-Walker malformation, Hypospadias, Vent...	ORPHA:1465
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Joint dislocation, High palate, Atrial septal defect, Ecchymosis, Abnormal duodenum morphology, M...	OMIM:601776
Buerger Disease	Acrocyanosis, Vasculitis	ORPHA:36258
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Thin upper lip vermilion, Hepatomegaly, Redundant neck skin, Ventricular septal defect, Short nec...	ORPHA:1655
Aymé-Gripp Syndrome	Thin upper lip vermilion, Pericarditis, Prominent metopic ridge, Proteinuria, Congenital diaphrag...	ORPHA:1272
Glycogen Storage Disease Due To Aldolase A Deficiency	Exercise-induced rhabdomyolysis, Decreased muscle mass, Elevated creatine kinase after exercise, ...	ORPHA:57
Braddock-Carey Syndrome 1	U-Shaped upper lip vermilion, Multicystic kidney dysplasia, Aortic valve prolapse, Ventricular se...	OMIM:619980
Fanconi Anemia, Complementation Group I	Atrial septal defect, Ventricular septal defect, Decreased response to growth hormone stimulation...	OMIM:609053
X-Linked Centronuclear Myopathy	Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve...	ORPHA:596
Tooth Agenesis, Selective, X-Linked, 1	Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol...	OMIM:313500
Atrial Fibrillation, Familial, 7	Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad...	OMIM:612240
Stt3B-Cdg	Cerebellar atrophy, Respiratory distress, Cryptorchidism, Optic atrophy, Micropenis, Failure to t...	ORPHA:370924
Ferguson-Bonni Neurodevelopmental Syndrome	Congenital diaphragmatic hernia, Coronary-pulmonary artery fistula, Micrognathia, High palate, Pa...	OMIM:619699
Potocki-Shaffer syndrome	Delayed cranial suture closure	DECIPHER:34
Hajdu-Cheney Syndrome	Short neck, Micrognathia, Absent frontal sinuses, Renal cyst, High palate, Premature loss of teet...	OMIM:102500
Hemophagocytic Lymphohistiocytosis, Familial, 2	Pancytopenia, Splenomegaly, Hepatosplenomegaly, Anemia, Leukopenia, Hemophagocytosis, Thrombocyto...	OMIM:603553
Presynaptic Congenital Myasthenic Syndromes	Microretrognathia, Recurrent respiratory infections, Congenital hip dislocation, Cyanosis, Sudden...	ORPHA:98914
Costello Syndrome	Redundant neck skin, Limited elbow movement, Short neck, Micrognathia, Chiari type I malformation...	OMIM:218040
Congenital Myasthenic Syndrome	Microretrognathia, Recurrent respiratory infections, Congenital hip dislocation, Cyanosis, Sudden...	ORPHA:590
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6	Facial palsy, Elevated circulating creatine kinase concentration, Pachygyria, Achilles tendon con...	OMIM:608840
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Dental crowding, Cardiomegaly, High, narrow palate, Pineal cyst, Short philtrum, Widely spaced te...	OMIM:300967
Mitochondrial Dna-Associated Leigh Syndrome	Hepatomegaly, Failure to thrive, Multiple glomerular cysts, Apnea, Cardiac conduction abnormality...	ORPHA:255210
Gaucher Disease Type 3	Pancytopenia, Mitral valve calcification, Abnormal heart valve morphology, Pericardial effusion, ...	ORPHA:77261
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Ureteral duplication, Congenital diaphragmatic hernia, Micrognathia, Large for gestational age, H...	OMIM:614080
Dyrk1A-Related Intellectual Disability Syndrome	Aortic regurgitation, Optic disc pallor, Failure to thrive, Multiple joint contractures, Hypospad...	ORPHA:464306
Osteopetrosis, Autosomal Recessive 5	Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenomegaly, Hypochr...	OMIM:259720
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Retinal detachment, Micrognathia, Short neck, Wide anterior fontanel, Abnormality of the elbow, F...	ORPHA:163649
Specc1L-Related Hypertelorism Syndrome	Atrial septal defect, Ventricular septal defect, Ectopic kidney, Cryptorchidism, Patent ductus ar...	ORPHA:1519
Cardiomyopathy, Familial Hypertrophic, 8	Cardiac arrest, Sudden cardiac death, Left atrial enlargement, Congestive heart failure, T-wave i...	OMIM:608751
Contractures-Developmental Delay-Pierre Robin Syndrome	Hypospadias, Micrognathia, High, narrow palate, Cleft palate, Chiari type I malformation, Glossop...	ORPHA:436003
Progressive Osseous Heteroplasia	Abnormality of the parathyroid gland, Osteoarthritis	ORPHA:2762
Agel Amyloidosis	Tongue atrophy, Proteinuria, Facial palsy, Respiratory tract infection, Xerostomia, Stage 5 chron...	ORPHA:85448
Sneddon Syndrome	Bicuspid aortic valve, Facial palsy, Cerebral hemorrhage, Cutis marmorata, Livedo reticularis, Li...	OMIM:182410
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri...	OMIM:610193
Microphthalmia, Syndromic 12	Ventricular septal defect, Intestinal malrotation, Congenital diaphragmatic hernia, Micrognathia,...	OMIM:615524
Chediak-Higashi Syndrome	Spontaneous, recurrent epistaxis, Hypopigmentation of hair, Ataxia, Decreased nerve conduction ve...	OMIM:214500
Immunodeficiency 42	Splenomegaly, Hypoplasia of the thymus, Recurrent aphthous stomatitis, Hepatomegaly	OMIM:616622
Atypical Werner Syndrome	Skeletal muscle atrophy, Abnormal cerebral vascular morphology, Micrognathia, Fasting hyperinsuli...	ORPHA:79474
Leukoencephalopathy With Vanishing White Matter 1	Decreased circulating progesterone, Primary gonadal insufficiency, Optic atrophy, Lethargy	OMIM:603896
Toriello-Carey Syndrome	Dandy-Walker malformation, Neonatal respiratory distress, Aganglionic megacolon, Short neck, Micr...	ORPHA:3338
Cornelia De Lange Syndrome 1	Congenital diaphragmatic hernia, Ectopic kidney, Short neck, Micrognathia, High, narrow palate, R...	OMIM:122470
Exudative Vitreoretinopathy 2, X-Linked	Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate...	OMIM:305390
Neurodegeneration With Brain Iron Accumulation 1	Decreased muscle mass, Tremor, Abnormal pyramidal sign, Choreoathetosis, Eyelid apraxia, Ataxia, ...	OMIM:234200
Cryofibrinogenemia, Familial Primary	Hematuria, Acrocyanosis, Transient nephrotic syndrome	OMIM:123540
Short Stature, Microcephaly, And Endocrine Dysfunction	Lymphopenia, Diabetes mellitus, Unilateral renal agenesis, Ectopic kidney, Cryptorchidism, Dilate...	OMIM:616541
Vascular Ehlers-Danlos Syndrome	Joint dislocation, Congenital hip dislocation, High, narrow palate, Osteoarthritis, Abnormality o...	ORPHA:286
Cardiofaciocutaneous Syndrome 3	Ventricular septal defect, Short neck, Pulmonic stenosis, Webbed neck, Atrial septal defect, Hype...	OMIM:615279
Congenital Disorder Of Glycosylation, Type Iiw	Hepatomegaly, Failure to thrive, Membranoproliferative glomerulonephritis, Ventricular septal def...	OMIM:619525
Chromosome 16Q22 Deletion Syndrome	Prominent metopic ridge, Hypospadias, Small for gestational age, Micrognathia, Short neck, Crypto...	OMIM:614541
Fraser Syndrome 2	Renal agenesis, Intestinal malrotation, Unilateral renal agenesis, Short neck, Rectal atresia, Re...	OMIM:617666
Mogs-Cdg	Hepatomegaly, Pulmonary edema, Edema, Cardiomegaly, Polyhydramnios, Hepatosplenomegaly, Atrial se...	ORPHA:79330
African Trypanosomiasis	Tremor, Impaired proprioception, Choreoathetosis, Papilledema, Alopecia, Abnormal central motor f...	ORPHA:3385
Coffin-Lowry Syndrome	Skeletal muscle atrophy, Hypoplasia of the maxilla, Abnormal tricuspid valve morphology, High pal...	ORPHA:192
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Bicuspid aortic valve, Apnea, Deep philtrum, Aspiration pneumonia, Atrial septal defect, Vesicour...	ORPHA:438213
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Decreased circulating cortisol level, Lethargy, Hashimoto thyroiditis, Hyponat...	ORPHA:199299
N-Acetylglutamate Synthase Deficiency	Respiratory distress, Hyperglutamatemia, Hyperammonemia, Lethargy, Failure to thrive	OMIM:237310
Neuromuscular Oculoauditory Syndrome	Respiratory distress, Elevated circulating creatine kinase concentration, Periventricular heterot...	OMIM:618733
17Q11 Microdeletion Syndrome	Abnormal internal carotid artery morphology, Abnormal lung morphology, Elevated circulating parat...	ORPHA:97685
Infantile Krabbe Disease	Respiratory distress, Cachexia, Optic atrophy, Abnormal heart rate variability, Ankle clonus, Res...	ORPHA:206436
Oculoectodermal Syndrome	Giant cell granuloma of mandible, Transient ischemic attack, Supernumerary nipple, Short neck, Pa...	OMIM:600268
Hydrops Fetalis	Miscarriage, Abnormality of the kidney, Small for gestational age, Pericardial effusion, Abnormal...	ORPHA:1041
Fanconi Anemia, Complementation Group N	Ventricular septal defect, Aplastic anemia	OMIM:610832
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Ventricular septal defect, Cryptorchidism, Absent pulmonary artery, Patent ductus arteriosus, Coa...	OMIM:600460
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome	Aortic regurgitation, Thin upper lip vermilion, Renal insufficiency, Renal agenesis, Mitral atres...	ORPHA:140952
Febrile Infection-Related Epilepsy Syndrome	Lethargy, Sinusitis, Cough	ORPHA:163703
Noonan Syndrome 5	Mandibular prognathia, Atrial septal defect, Short neck, Large for gestational age, Cryptorchidis...	OMIM:611553
Kabuki Syndrome	Hypoplasia of penis, Congenital diaphragmatic hernia, Orofacial cleft, Coloboma, High palate, Wid...	ORPHA:2322
Congenital Myopathy 15	Waddling gait, Tricuspid regurgitation, Fatty replacement of skeletal muscle, Vocal cord paralysi...	OMIM:620161
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Mandibular prognathia, Cerebellar atrophy, Recurrent urinary tract infections, Ventricular septal...	OMIM:619103
Neurocutaneous Melanocytosis	Abnormality of retinal pigmentation, Death in infancy, Renal hypoplasia/aplasia, Meningocele, Abn...	ORPHA:2481
Alzahrani-Kuwahara Syndrome	Optic disc pallor, Hypospadias, Pulmonary artery sling, Coronary sinus enlargement, Ventricular s...	OMIM:619268
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Mandibular prognathia, Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Protruding tongue, ...	ORPHA:324410
Cardiomyopathy, Familial Hypertrophic, 6	Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail...	OMIM:600858
Developmental And Epileptic Encephalopathy 30	Respiratory distress, Death in infancy	OMIM:616341
Juvenile Nephropathic Cystinosis	Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, Low-molecular-weight proteinuria, Hypocalcem...	ORPHA:411634
Oocyte/Zygote/Embryo Maturation Arrest 17	Female infertility, Amenorrhea	OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20	Female infertility, Amenorrhea	OMIM:620383
Yuan-Harel-Lupski Syndrome	Ventricular septal defect, Bicuspid aortic valve, Aortic root aneurysm, Double outlet right ventr...	OMIM:616652
Meckel Syndrome, Type 7	Multicystic kidney dysplasia, Multiple glomerular cysts, Portal hypertension, Situs inversus tota...	OMIM:267010
Alpha-Mannosidosis, Adult Form	Pancytopenia, Hepatosplenomegaly	ORPHA:309288
Sonoda Syndrome	Ventricular septal defect	OMIM:270460
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cerebellar atrophy, Cardiomegaly, Congestive heart failure, Optic atrophy, Depression, Cardiomyop...	OMIM:619259
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Anisocytosis, Malar prominence, Hypothyroidism, Hyperplasia of the ...	ORPHA:231226
Orofaciodigital Syndrome V	Recurrent respiratory infections, Thin upper lip vermilion, Median cleft lip, Unilateral cryptorc...	OMIM:174300
Renal-Hepatic-Pancreatic Dysplasia 1	Asplenia, Atrial septal defect, Neonatal death, Dandy-Walker malformation, Hepatomegaly, Portal h...	OMIM:208540
Fructose-1,6-Bisphosphatase Deficiency	Respiratory distress, Hepatomegaly, Tachycardia, Increased urinary glycerol, Intermittent hyperve...	ORPHA:348
Drug Reaction With Eosinophilia And Systemic Symptoms	Renal insufficiency, Cardiac arrest, Eosinophilia, Enanthema, Myocarditis, Angioedema, Erythema, ...	ORPHA:139402
Tenorio Syndrome	Mandibular prognathia, Apnea, Raynaud phenomenon, Recurrent pneumonia, Wide mouth, Enuresis, Macr...	OMIM:616260
Variegate Porphyria	Tachycardia, Paralysis	OMIM:176200
Combined Oxidative Phosphorylation Deficiency 39	Cerebellar atrophy, Recurrent respiratory infections, Flexion contracture, Simplified gyral patte...	OMIM:618397
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hepatomegaly...	ORPHA:247585
Autoimmune Lymphoproliferative Syndrome	Colitis, Thyroid carcinoma, Lymphocytosis, Increased B cell count, Elevated proportion of CD4-neg...	ORPHA:3261
Acute Transverse Myelitis	Back pain, Dissociated sensory loss, Impaired proprioception, Upper limb muscle weakness, Priapis...	ORPHA:139417
Myhre Syndrome	Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Short philtrum, Atrial septal defec...	OMIM:139210
Osteopetrosis, Autosomal Recessive 9	Papilledema, Stage 3 chronic kidney disease, Hyperparathyroidism, Elevated circulating creatinine...	OMIM:620366
11Q22.2Q22.3 Microdeletion Syndrome	Poor head control, Abnormal social behavior, Obesity, Thick eyebrow	ORPHA:444002
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Prominent metopic ridge, Facial hypotonia, Optic nerve hypoplasia, Unilateral renal agenesis, Oli...	ORPHA:457284
Severe Acute Respiratory Syndrome	Respiratory distress, Respiratory failure requiring assisted ventilation, Diabetes mellitus, Dysp...	ORPHA:140896
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Tented upper lip vermilion, Flexion contracture, Downturned corners of mouth, Short philtrum, Wid...	ORPHA:487796
Hereditary Bullous Dystrophy, Macular Type	Pneumonia, Cryptorchidism, Heart murmur, Abnormal heart morphology, Acrocyanosis, Decreased testi...	ORPHA:1867
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Respiratory distress, Brain abscess, Central apnea, Urinary incontinence, Congestive heart failur...	OMIM:616482
Methylmalonic Aciduria, Cbla Type	Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Ketonuria, Elevated urine 3-hydroxypropionic ...	OMIM:251100
Citrullinemia Type I	Torticollis, Tachypnea, Hyperammonemia, Ankle clonus, Elevated plasma citrulline, Lethargy, Failu...	ORPHA:247525
Myotonic Dystrophy 1	Respiratory distress, Atrial flutter, Atrial fibrillation, Myotonia, First degree atrioventricula...	OMIM:160900
Phelan-Mcdermid Syndrome	Ventricular septal defect, Abnormality of the kidney, Micrognathia, Patent ductus arteriosus, Den...	OMIM:606232
Polyvalvular Heart Disease Syndrome	Tricuspid regurgitation, Abnormal heart valve morphology, Dental crowding, Micrognathia, Mitral v...	ORPHA:228410
Trichorhinophalangeal Syndrome Type 2	Joint dislocation, Thin upper lip vermilion, Recurrent urinary tract infections, Abnormality of t...	ORPHA:502
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Autoimmune hemolytic anemia, Pneumonia, Glomerulonephritis, Plasmacytosis, Lymphopenia	OMIM:247800
Encephalocraniocutaneous Lipomatosis	Dandy-Walker malformation, Ventricular septal defect, Subcutaneous lipoma, Cryptorchidism, Cerebe...	OMIM:613001
Chronic Thromboembolic Pulmonary Hypertension	Cardiac shunt, Elevated circulating C-reactive protein concentration, Pulmonary embolism, Abnorma...	ORPHA:70591
Autosomal Recessive Primary Microcephaly	Thin upper lip vermilion, Unilateral renal agenesis, Gray matter heterotopia, Vesicoureteral refl...	ORPHA:2512
Chédiak-Higashi Syndrome	Abnormal leukocyte morphology, Pancytopenia, Pericardial effusion, Thrombocytopenia, Splenomegaly...	ORPHA:167
Cutis Marmorata Telangiectatica Congenita	Retinal detachment, Multicystic kidney dysplasia, Telangiectasia of the skin, Cutis marmorata, Mi...	ORPHA:1556
9Q21.13 Microdeletion Syndrome	Craniosynostosis, Cryptorchidism, Abnormal tongue morphology, Abnormal heart morphology, Downturn...	ORPHA:531151
Naxos Disease	Sparse scalp hair, Curly hair, Sudden cardiac death, Abnormality of hair texture, Congestive hear...	ORPHA:34217
Pseudohypoparathyroidism, Type Ic	Delayed eruption of teeth, Short neck, Elevated circulating thyroid-stimulating hormone concentra...	OMIM:612462
Congenital Gerbode Defect	Crackles, Holosystolic murmur, Bacterial endocarditis, Abnormal tricuspid valve leaflet morpholog...	ORPHA:99095
Abdominal Obesity-Metabolic Syndrome 3	Hypertriglyceridemia, Myocardial infarction, Increased LDL cholesterol concentration, Hypertensio...	OMIM:615812
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Right ventr...	OMIM:618920
Illum Syndrome	Calcinosis, Apnea, Whistling appearance, Pierre-Robin sequence, Bradycardia, Arthrogryposis multi...	OMIM:208155
Thanatophoric Dysplasia Type 1	Abnormality of the kidney, Wide anterior fontanel, Increased nuchal translucency, Patent ductus a...	ORPHA:1860
Metachromatic Leukodystrophy, Adult Form	Orthostatic hypotension due to autonomic dysfunction, Decreased nerve conduction velocity, Chorea...	ORPHA:309271
Classic Galactosemia	Hepatomegaly, Decreased serum insulin-like growth factor 1, Abnormal erythrocyte enzyme level, Cr...	ORPHA:79239
Meier-Gorlin Syndrome 1	Respiratory distress, Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Flexion contractu...	OMIM:224690
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Respiratory distress, Recurrent respiratory infections, Thin upper lip vermilion, Hepatomegaly, E...	ORPHA:329178
Hemochromatosis, Type 4	Hepatomegaly, Diabetes mellitus, Increased circulating ferritin concentration, Elevated transferr...	OMIM:606069
Acute Lung Injury	Shock, Respiratory distress, Pneumonia, Elevated circulating C-reactive protein concentration, Di...	ORPHA:178320
Pontocerebellar Hypoplasia, Type 17	Secundum atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:619909
Classical-Like Ehlers-Danlos Syndrome Type 2	Joint dislocation, Micrognathia, Prominent veins on trunk, Knee dislocation, Shoulder dislocation...	ORPHA:536532
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hypersplenism, Splenomegaly, Pancytopenia	OMIM:613385
8Q12 Microduplication Syndrome	Atrial septal defect, Ventricular septal defect, Everted lower lip vermilion, Narrow mouth, Vesic...	ORPHA:228399
Seizures, Benign Familial Infantile, 3	Cyanosis, Apnea	OMIM:607745
Seizures, Benign Familial Infantile, 1	Cyanosis, Apnea	OMIM:601764
Supravalvular Aortic Stenosis	Pulmonary artery stenosis, Peripheral arterial stenosis, Pulmonic stenosis, Supravalvular aortic ...	OMIM:185500
Hydrocephaly-Low Insertion Umbilicus Syndrome	Patent ductus arteriosus, Tetralogy of Fallot, Anomalous pulmonary venous return	ORPHA:2184
Serkal Syndrome	Abnormal penis morphology, Hypoplasia of the bladder, Hypospadias, Ventricular septal defect, Con...	ORPHA:139466
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Mandibular prognathia, Ventricular septal defect, Aplasia/Hypoplasia of the cerebe...	ORPHA:1908
Char Syndrome	No permanent dentition, Patent ductus arteriosus, Ventricular septal defect, Persistence of prima...	ORPHA:46627
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Osteoarthritis, Hy...	ORPHA:1345
Brachydactyly, Type B1	Vertebral fusion, Ventricular septal defect, Wide anterior fontanel, Delayed eruption of permanen...	OMIM:113000
Hunter-Macdonald Syndrome	Aortic regurgitation, Thin upper lip vermilion, Hypospadias, Bicuspid aortic valve, Cubitus valgu...	OMIM:611962
Craniofrontonasal Dysplasia	Camptodactyly of finger, Congenital diaphragmatic hernia, Abnormality of hair texture, Widow's pe...	ORPHA:1520
Laubry-Pezzi Syndrome	Aortic valve prolapse, Bicuspid aortic valve, Abnormal coronary artery morphology, Ventricular se...	ORPHA:99094
Stuve-Wiedemann Syndrome 1	Enlarged joints, Myotonia, Apnea, Short neck, Micrognathia, Knee flexion contracture, Smooth tong...	OMIM:601559
Bundle Branch Block, Familial Isolated Complete Right	Right bundle branch block	OMIM:113950
Seckel Syndrome 9	Recurrent respiratory infections, Recurrent urinary tract infections, Ventricular septal defect, ...	OMIM:616777
Hepatic Lipase Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration, Angina pectoris	OMIM:614025
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Patent ductus arteriosus, Optic disc coloboma, Ventricular septal defect, Short neck	ORPHA:52055
Mycophenolate Mofetil Embryopathy	Ventricular septal defect, Congenital diaphragmatic hernia, Ectopic kidney, Micrognathia, Tracheo...	ORPHA:268249
Rere-Related Neurodevelopmental Syndrome	Cerebellar vermis hypoplasia, Ventricular septal defect, Hypospadias, Micrognathia, Cryptorchidis...	ORPHA:494344
Pericardial And Diaphragmatic Defect	Meckel diverticulum, Neonatal respiratory distress, Bicuspid aortic valve, Intestinal malrotation...	ORPHA:2847
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Natal tooth, Death in infancy, Cerebellar vermis hypoplasia, Ventricular septal defect, Proteinur...	OMIM:616901
Joubert Syndrome With Oculorenal Defect	Encephalocele, Renal insufficiency, Cerebellar vermis hypoplasia, Retinal dystrophy, Aganglionic ...	ORPHA:2318
Ramos-Arroyo Syndrome	Respiratory distress, Aganglionic megacolon, Carious teeth, Absent retinal pigment epithelium, Pa...	ORPHA:1051
Laryngeal Adductor Paralysis	Paralysis	OMIM:150270
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Centrally nucleated ...	OMIM:616812
Biotinidase Deficiency	Hepatomegaly, Apnea, Splenomegaly, Tachypnea, Optic atrophy, Hyperammonemia, Organic aciduria, Le...	OMIM:253260
Van Maldergem Syndrome 1	Irregular dentition, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxilla, Simplif...	OMIM:601390
Hypomandibular Faciocranial Dysostosis	Atrial septal defect, Patent ductus arteriosus, Optic disc coloboma	OMIM:241310
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Ventricular septal defect, Short neck, Bilateral cryptorchidism, Patent ductus arteriosus, Optic ...	OMIM:300472
Aortic Aneurysm, Familial Thoracic 10	Aortic arch aneurysm, Thoracic aortic aneurysm, Bicuspid aortic valve, Fusiform ascending tubular...	OMIM:617168
Pulmonary Hypertension, Primary, 1	Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc...	OMIM:178600
Sympathetic Ophthalmia	Papilledema, Retinal detachment, Vitreous floaters, Erythema, Vitritis, Retinal hemorrhage, Macul...	ORPHA:79098
Ulnar-Mammary Syndrome	Hypoplasia of penis, Ventricular septal defect, Camptodactyly of finger, Abnormality of the wrist...	ORPHA:3138
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Respiratory distress, Recurrent respiratory infections, Renal insufficiency, Neonatal respiratory...	OMIM:614748
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Cerebellar vermis hypoplasia, Hypospadias, Ventricular septal defect, Micrognathia, Hypoplasia of...	OMIM:616975
Pyruvate Dehydrogenase E2 Deficiency	Speech apraxia, Paroxysmal dystonia, Broad-based gait, Babinski sign, Hypertonia, Neurodegenerati...	ORPHA:79244
Hamamy Syndrome	Prolonged QRS complex, Microcytic anemia, Micrognathia, High palate, Atrial septal defect, Hypopa...	OMIM:611174
Cerebral Visual Impairment	Optic disc pallor, Cerebral palsy, Optic nerve hypoplasia, Optic atrophy, Clumsiness, Central ner...	ORPHA:447788
Beta-Thalassemia Major	Extramedullary hematopoiesis, Malar prominence, Hypothyroidism, Hyperplasia of the maxilla, Hypop...	ORPHA:231214
X Small Rings	Premature ovarian insufficiency, Bicuspid aortic valve, Ventricular septal defect, Short neck, Pr...	ORPHA:96201
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s...	OMIM:602522
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Failure to thrive, Telangiectasia of the skin, Cutis marmorata, Optic atrophy, Wide mouth, Chiari...	ORPHA:60040
Hydranencephaly	Stiff neck, Abnormality of fontanelles, Optic nerve hypoplasia, Abnormal internal carotid artery ...	ORPHA:2177
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Hepatomegaly, Splenomegaly, Abnormality of neuronal migration, Aplasia/Hypoplasia of the lungs, A...	ORPHA:2204
Pseudohypoparathyroidism, Type Ia	Delayed eruption of teeth, Short neck, Pseudohypoparathyroidism, Obesity, Hyperphosphatemia, Elev...	OMIM:103580
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect...	OMIM:610913
Dermatomyositis	Abnormal eosinophil morphology, Myocardial infarction, Diffuse reticular or finely nodular infilt...	ORPHA:221
Oculodentodigital Dysplasia	Mandibular prognathia, Neurogenic bladder, Median cleft lip, Ventricular septal defect, Camptodac...	ORPHA:2710
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Choroidal neovascularization, Elevated circulating C-reactive protein concentr...	ORPHA:91500
Marfan Syndrome	Decreased muscle mass, Bicuspid aortic valve, Genu recurvatum, Dental crowding, Micrognathia, Fle...	OMIM:154700
Maternal Phenylketonuria	Ventricular septal defect, Micrognathia, Esophageal atresia, Abnormal renal morphology, Abnormal ...	ORPHA:2209
Kury-Isidor Syndrome	Tented upper lip vermilion, Ventricular septal defect, Short neck, Exudative vitreoretinopathy, H...	OMIM:619762
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Renal cyst, Lobulated tongue, Molar tooth sign on MRI, Dandy-Walker malformation, Unicoronal syno...	OMIM:616300
Hemophagocytic Syndrome Associated With An Infection	Pancytopenia, Splenomegaly, Abnormal T cell subset distribution, Anemia, Hemophagocytosis, Neutro...	ORPHA:158048
Congenital Myopathy 12	Death in infancy, Small for gestational age, Respiratory insufficiency due to muscle weakness, Hi...	OMIM:612540
Anaplastic Thyroid Carcinoma	Respiratory distress, Dyspnea, Tracheoesophageal fistula, Upper airway obstruction, Lymphadenopat...	ORPHA:142
Sotos Syndrome	Mandibular prognathia, Atrial septal defect, Ventricular septal defect, Abnormality of the kidney...	OMIM:117550
Campomelic Dysplasia	Respiratory distress, Irregular dentition, Apnea, Micrognathia, Patellar hypoplasia, High palate,...	OMIM:114290
Kanzaki Disease	Peripheral axonal neuropathy, Distal muscle weakness, Telangiectasia of the oral mucosa, Axonal d...	OMIM:609242
Localized Scleroderma	Skeletal muscle atrophy, Abnormality of the kidney, Abnormality of the dentition, Raynaud phenome...	ORPHA:90289
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Bicuspid aortic valve, High, narrow palate, Coloboma, Short philtrum, High palate, Chorioretinal ...	OMIM:619475
Beck-Fahrner Syndrome	Facial hypotonia, Ventricular septal defect, Cardiomegaly	OMIM:618798
Aortic Valve Disease 2	Bicuspid aortic valve, Patent foramen ovale, Calcification of the aorta, Coarctation of aorta, As...	OMIM:614823
Metachromatic Leukodystrophy, Juvenile Form	Decreased nerve conduction velocity, Babinski sign, Optic atrophy, Spasticity, Clumsiness, Progre...	ORPHA:309263
Familial Idiopathic Dilatation Of The Right Atrium	Paroxysmal atrial fibrillation, Cardiomegaly, Midsystolic murmur, Atrioventricular block, Holosys...	ORPHA:1677
Robin Sequence With Cleft Mandible And Limb Anomalies	Microretrognathia, Small hypothenar eminence, Micrognathia, Agenesis of mandibular central inciso...	OMIM:268305
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Natal tooth, Wormian bones, Eosinophi...	OMIM:617237
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8	Lethargy	OMIM:617900
Ataxia-Telangiectasia	Recurrent respiratory infections, Skeletal muscle atrophy, Diabetes mellitus, Telangiectasia of t...	ORPHA:100
Ehlers-Danlos Syndrome, Vascular Type	Nodular pattern on pulmonary HRCT, Periodontitis, Ecchymosis, Emphysema, Premature loss of teeth,...	OMIM:130050
Exudative Vitreoretinopathy 1	Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin...	OMIM:133780
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Hypoplasia of penis, Ventricular septal defect, Micrognathia, Cryptorchidism, Renal hypoplasia	ORPHA:2256
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Recurrent respiratory infections, Ventricular septal defect, Overweight, High, narrow palate, Hem...	OMIM:619575
Opitz-Kaveggia Syndrome	Multiple joint contractures, Dental crowding, Short neck, Micrognathia, Anteriorly placed anus, H...	OMIM:305450
Brachytelephalangic Chondrodysplasia Punctata	Central apnea, Recurrent respiratory infections, Neonatal respiratory distress, Respiratory failu...	ORPHA:79345
Aneurysm-Osteoarthritis Syndrome	Osteoarthritis, Knee osteoarthritis, High palate, Abdominal aortic aneurysm, Bifid uvula, Arteria...	ORPHA:284984
Adenine Phosphoribosyltransferase Deficiency	2,8-dihydroxyadenine crystalluria, Renal insufficiency, Elevated circulating creatinine concentra...	OMIM:614723
Immunodeficiency 83, Susceptibility To Viral Infections	Lethargy	OMIM:613002
Pulmonary Non-Tuberculous Mycobacterial Infection	Respiratory distress, Crackles, Pericardial effusion, Dyspnea, Pneumothorax, Chronic pulmonary ob...	ORPHA:411703
Blau Syndrome	Xerostomia, Large vessel vasculitis, Abnormal optic nerve morphology, Nephropathy, Abnormal saliv...	ORPHA:90340
Gapo Syndrome	Prominent scalp veins, Hepatomegaly, Facial palsy, Delayed closure of the anterior fontanelle, Mi...	OMIM:230740
Pallister-Hall Syndrome	Adrenal hypoplasia, Ectopic kidney, Large for gestational age, Abnormal lung lobation, Gonadotrop...	ORPHA:672
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Thin upper lip vermilion, Macroorchidism, Ventricular septal defect, Dental crowding, Micrognathi...	OMIM:309520
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Epistaxis, Increased urinary potassium, Glucocortocoid-insensitive primary hyperaldosteronism, Ne...	ORPHA:231625
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Atrial septal defect, Hypoplasia of the bladder, Hydroureter, Bicuspid aortic valve, Thin upper l...	OMIM:300707
Cutis Laxa, Autosomal Dominant 3	Aortic regurgitation, Tortuous cerebral arteries, Unilateral renal agenesis, Hip dislocation, Wor...	OMIM:616603
Acquired Purpura Fulminans	Shock, Elevated circulating C-reactive protein concentration, Intracranial hemorrhage, Prolonged ...	ORPHA:49566
Mmep Syndrome	Mandibular prognathia, Median cleft lip, Ventricular septal defect, Cryptorchidism, Orofacial cleft	ORPHA:3434
Wild Type Abeta2M Amyloidosis	Gastrointestinal hemorrhage, Arthropathy, Intestinal pseudo-obstruction, Congestive heart failure...	ORPHA:85446
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Respiratory distress, Distal amyotrophy	OMIM:619099
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy	Atrial septal defect, Ventricular septal defect	OMIM:614249
Short Stature-Micrognathia Syndrome	Cerebellar atrophy, Failure to thrive, Ventricular septal defect, Micrognathia, Cryptorchidism, C...	OMIM:617164
Criss-Cross Heart	Cyanosis, Ventricular septal defect, Tricuspid stenosis, Respiratory insufficiency, Transposition...	ORPHA:1461
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Elevated circulating C-reactive protein concentration, Oral ulcer, Leukopenia, Hashimoto thyroidi...	OMIM:615688
Fanconi Anemia, Complementation Group P	Pancytopenia, Anemia	OMIM:613951
Acrootoocular Syndrome	Delayed eruption of teeth, Small hypothenar eminence, Small for gestational age, Decreased respon...	ORPHA:2980
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation	Ventricular septal defect, Micrognathia, Thick lower lip vermilion, Widely-spaced maxillary centr...	OMIM:608227
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures	Respiratory distress, Joint contracture	OMIM:617977
Liddle Syndrome	Renal insufficiency, Hypertension, Hypokalemia, Cerebral ischemia, Nephropathy, Arrhythmia	ORPHA:526
Peroxisome Biogenesis Disorder 8A (Zellweger)	Hepatomegaly, Death in infancy, Ventricular septal defect, Jaundice, Glossoptosis	OMIM:614876
Autosomal Recessive Faciodigitogenital Syndrome	Dry hair, Hypopigmentation of hair, Short stature, Widow's peak, Coarse hair	ORPHA:1974
Atelis Syndrome 1	Ventricular septal defect, Carious teeth, Thrombocytopenia, Bronchiectasis, Leukopenia, High pala...	OMIM:620184
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Progressive distal muscle weakness, Proximal muscle weakness, Fatty replacement of skeletal muscl...	ORPHA:397744
Myasthenia Gravis	Hemolytic anemia, Myositis, Hyperthyroidism, Pure red cell aplasia, Raynaud phenomenon, Dyspnea, ...	ORPHA:589
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Elbow flexion contractu...	OMIM:616516
King-Denborough Syndrome	Ventricular septal defect, Elevated circulating creatine kinase concentration, Short neck, Centra...	OMIM:619542
Diaphragmatic Hernia 4, With Cardiovascular Defects	Hepatomegaly, Diaphragmatic eventration, Neonatal respiratory distress, Ventricular septal defect...	OMIM:620025
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Unilateral lung agenesis, Hypoplasia of the maxilla, Simplified gyral pattern, Downturned corners...	ORPHA:500150
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities	Cleft upper lip, Abnormality of the dentition, Abnormality of the neck, Aminoaciduria, Ectodermal...	OMIM:273400
Familial Dysautonomia	Hyponatremia, Recurrent respiratory infections, Orthostatic hypotension, Renal insufficiency, Tac...	ORPHA:1764
Orofaciodigital Syndrome Vi	Failure to thrive, Cerebellar vermis hypoplasia, Renal agenesis, Accessory oral frenulum, Microgn...	OMIM:277170
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Delayed eruption of permanent teeth, Ventricular septal defect	OMIM:618506
Uremic Pruritus	Renal hypophosphatemia, Hypercalcemia, Chronic kidney disease, Hypermagnesemia, Stage 5 chronic k...	ORPHA:94059
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Reticulocytosis, Anuria, Acute colitis, Myocardial infarction, Intestinal perforati...	ORPHA:90038
Woolly Hair	Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair...	ORPHA:170
Intellectual Developmental Disorder, Autosomal Recessive 79	Ventricular septal defect, Oligomenorrhea	OMIM:620393
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypertyrosinemia, Death in infancy, Respiratory distress, 4-hydroxyphenylacetic aciduria, Conjuga...	OMIM:617156
Trichothiodystrophy	Ridged nail, Multiple joint contractures, Brittle hair, Abnormal pyramidal sign, Gait ataxia, Hyp...	ORPHA:33364
Duane-Radial Ray Syndrome	Optic disc hypoplasia, Shoulder dislocation, Atrial septal defect, Vesicoureteral reflux, Upper l...	OMIM:607323
Muscular Dystrophy, Progressive Pectorodorsal	Scapular winging, Elevated circulating creatine kinase concentration, Shoulder girdle muscle weak...	OMIM:310095
Potocki-Shaffer Syndrome	Wormian bones, Micropenis, Short philtrum, Downturned corners of mouth	OMIM:601224
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Ventricular septal defect, Nephrolithiasis, Biventricular hypertrophy, Hypertension, Hypokalemia,...	OMIM:615474
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive	Vitreous hemorrhage, Purpura, Pulmonary embolism	OMIM:612304
Trichothiodystrophy 8, Nonphotosensitive	Head titubation, Sparse eyebrow, Trichorrhexis nodosa, Babinski sign, Spastic diplegia, Ankle clo...	OMIM:619691
Trisomy 18	Congenital diaphragmatic hernia, Abnormality of the fontanelles or cranial sutures, Atrial septal...	ORPHA:3380
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hyperammonemia, Ketonuria, Apnea, Elevated urinary 3-methylcrotonylglycine level, Failure t...	OMIM:210200
Kaufman Oculocerebrofacial Syndrome	Optic disc pallor, Thin upper lip vermilion, Congenital hip dislocation, Ventricular septal defec...	OMIM:244450
Myopathy With Extrapyramidal Signs	Extremely elevated creatine kinase, Hepatomegaly, Tented upper lip vermilion, Ventricular septal ...	OMIM:615673
Biotinidase Deficiency	Respiratory distress, Apnea, Optic neuropathy, Myelopathy, Optic atrophy, Hyperammonemia, Organic...	ORPHA:79241
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Hypoplasia of the bladder, Hypospadias, Ventricular septal defect, Congenital diaphragmatic herni...	OMIM:611812
Acrofacial Dysostosis 1, Nager Type	Congenital diaphragmatic hernia, Micrognathia, Aqueductal stenosis, Cleft upper lip, Patent ductu...	OMIM:154400
Genetic Recurrent Myoglobinuria	Dark urine, Proximal muscle weakness in upper limbs, Renal insufficiency, Myositis, Recurrent myo...	ORPHA:99845
Vulto-Van Silfhout-De Vries Syndrome	Sacral dimple, Pain insensitivity, Widow's peak, Fine hair, Gait disturbance, Horizontal eyebrow	OMIM:615828
Singleton-Merten Syndrome 1	Cardiomegaly, Hypoplasia of the maxilla, Eruption failure, Joint subluxation, Subvalvular aortic ...	OMIM:182250
Goldberg-Shprintzen Syndrome	Aortic regurgitation, Ventricular septal defect, Aganglionic megacolon, Short neck, Hypoplasia of...	OMIM:609460
Cantú Syndrome	Abnormal heart valve morphology, Short neck, Cardiomegaly, Patent ductus arteriosus, Low posterio...	ORPHA:1517
Coffin-Lowry Syndrome	Short stature, Highly arched eyebrow, Kyphosis, Lumbar kyphosis, Hyperconvex fingernails, Coarse ...	OMIM:303600
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Multiple joint contractures, Hypoplasia of the pons, Simplified gyral pattern, Knee flexion contr...	ORPHA:468631
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Respiratory distress, Craniosynostosis, Cryptorchidism, Optic atrophy, Narrow palate, Cleft palat...	ORPHA:1555
Donnai-Barrow Syndrome	Retinal detachment, Ventricular septal defect, Proteinuria, Congenital diaphragmatic hernia, Reti...	ORPHA:2143
Cockayne Syndrome B	Dry hair, Abnormal peripheral myelination, Tremor, Death in childhood, Sparse hair, Ataxia, Crypt...	OMIM:133540
Renal Tubular Acidosis, Distal, 1	Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N...	OMIM:179800
Hatipoglu Immunodeficiency Syndrome	Pancytopenia, Anemia	OMIM:620331
Sudden Infant Death-Dysgenesis Of The Testes Syndrome	Death in infancy, Hypoplasia of penis, Cardiac arrest, Cryptorchidism, Arrhythmia, Abnormal patte...	ORPHA:168593
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ...	OMIM:610921
Poems Syndrome	Papilledema, Diabetes mellitus, Thrombocytosis, Polycythemia, Pericardial effusion, Abnormality o...	ORPHA:2905
Autosomal Recessive Dopa-Responsive Dystonia	Bradykinesia, Lethargy	ORPHA:101150
Hyperimmunoglobulinemia D With Periodic Fever	Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Vasculitis, Erythema, Lymphade...	ORPHA:343
Lethal Congenital Contracture Syndrome 1	Skeletal muscle atrophy, Hypoplasia of the musculature, Paucity of anterior horn motor neurons, P...	OMIM:253310
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Thin upper lip vermilion, Scapular winging, Ventricular septal defect, Dental crowding, Micrognat...	OMIM:617061
Branchiootorenal Syndrome 1	Branchial cyst, Branchial fistula	OMIM:113650
Hypoglossia With Situs Inversus	Respiratory distress, Micrognathia, Situs inversus totalis, Asplenia, Upper airway obstruction, H...	OMIM:612776
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Anemia, Leukopenia, Increased mean corpuscular volume, Bone marrow hypocellulari...	OMIM:127550
Mckusick-Kaufman Syndrome	Urethral stricture, Multicystic kidney dysplasia, Failure to thrive, Ventricular septal defect, T...	ORPHA:2473
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Cerebellar atrophy, Thin upper lip vermilion, Cerebellar vermis hypoplasia, Optic atrophy, Right ...	OMIM:618590
Silver-Russell Syndrome 1	Urethral valve, Hypospadias, Decreased response to growth hormone stimulation test, Small for ges...	OMIM:180860
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Ureteral duplication, Short neck, Micrognathia, Renal cyst, Macular degeneration, Widely spaced t...	OMIM:266920
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome	Recurrent respiratory infections, Alopecia, Sparse scalp hair, Short stature, Sparse eyebrow, Fin...	ORPHA:1882
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Sparse eyebrow, Hyperconvex fingernails...	ORPHA:1071
Carvajal Syndrome	Woolly hair, Dilated cardiomyopathy, Congestive heart failure	ORPHA:65282
Cirrhosis, Familial	Jaundice, Esophageal varix, Increased level of L-fucose in urine, Increased level of propylene gl...	OMIM:215600
Hypothyroidism, Congenital, Nongoitrous, 2	Large posterior fontanelle, Increased circulating thyroglobulin level, Thyroid agenesis, Elevated...	OMIM:218700
Sarcoidosis	Heart block, Abnormal lung morphology, Increased T cell count, Ventricular tachycardia, Nephrocal...	ORPHA:797
Cardiofaciocutaneous Syndrome 4	Absent eyebrow, Curly hair, Short stature, Optic nerve hypoplasia, Sparse eyelashes, Scoliosis, P...	OMIM:615280
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Abnormality of the knee, Congenital diaphragmatic hernia, Micrognathia, Crowded maxillary incisor...	ORPHA:2063
Brain Small Vessel Disease 2	Intracranial hemorrhage, Subcortical heterotopia, Polymicrogyria	OMIM:614483
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Respiratory distress, Hypoplasia of penis, Cyclopia, Aplasia/Hypoplasia of the cerebellum, Situs ...	ORPHA:990
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Persistence of primary teeth, Supernumerary tooth, Recurrent upper respiratory tract infections, ...	OMIM:619752
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Respiratory distress, Depression, Bradykinesia, Apathy, Axial muscle stiffness	ORPHA:240085
Feingold Syndrome Type 2	Ventricular septal defect	ORPHA:391646
Slc35A1-Cdg	Abnormal bleeding, Prolonged bleeding time, Respiratory distress, Subcutaneous hemorrhage, Pneumo...	ORPHA:238459
Glutaric Acidemia Type 3	Ketonuria, Glutaric aciduria, Abnormality of circulating enzyme level, Elevated circulating gluta...	ORPHA:35706
Benign Familial Infantile Epilepsy	Cyanosis, Apnea	ORPHA:306
Seckel Syndrome 1	Pancytopenia	OMIM:210600
D-Bifunctional Protein Deficiency	Cerebellar atrophy, Hepatomegaly, Decreased muscle mass, Failure to thrive, Micrognathia, Splenom...	OMIM:261515
Fanconi Anemia, Complementation Group F	Atrial septal defect, Failure to thrive, Pneumonia, Decreased response to growth hormone stimulat...	OMIM:603467
Flna-Related X-Linked Myxomatous Valvular Dysplasia	Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Micrognathia, Dyspnea, Pate...	ORPHA:555877
Menkes Disease	Poor head control, Brittle hair, Short stature, Alopecia, Babinski sign, Intracranial hemorrhage,...	OMIM:309400
Pentalogy Of Cantrell	Encephalocele, Absent gallbladder, Hypospadias, Abnormal pericardium morphology, Congenital diaph...	ORPHA:1335
Pearson Syndrome	Decreased response to growth hormone stimulation test, Renal cyst, Hypocalcemia, Neutropenia, Hyp...	ORPHA:699
Lmna-Related Cardiocutaneous Progeria Syndrome	Ventricular hypertrophy, Mitral valve calcification, Hypertriglyceridemia, Congestive heart failu...	ORPHA:363618
Thyroid Dyshormonogenesis 1	Macroglossia, Umbilical hernia, Hypothyroidism, Lethargy, Goiter	OMIM:274400
Cardiomyopathy, Familial Hypertrophic, 1	Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy	OMIM:192600
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome	Venous insufficiency, Congestive heart failure, Ovarian neoplasm, Excessive wrinkled skin, Arteri...	ORPHA:137608
Radio-Renal Syndrome	Respiratory distress, Multicystic kidney dysplasia, Renal agenesis, Renal hypoplasia/aplasia, Sho...	ORPHA:3015
Zimmermann-Laband Syndrome	Hepatomegaly, Micrognathia, Short neck, Splenomegaly, Supernumerary tooth, Gingival fibromatosis,...	ORPHA:3473
Igg4-Related Pachymeningitis	Abnormality of the cervical spine, Somatic sensory dysfunction, Low back pain, Abnormal spinal du...	ORPHA:449427
Van Maldergem Syndrome 2	Irregular dentition, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxilla, Downtur...	OMIM:615546
Livedoid Vasculopathy	Leukocytosis, Pancytopenia, Polycythemia, Anemia	ORPHA:542643
Neonatal Marfan Syndrome	Neonatal respiratory distress, Tricuspid regurgitation, Small for gestational age, Micrognathia, ...	ORPHA:284979
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Respiratory distress, Multiple joint contractures, Short neck, Secundum atrial septal defect, Sub...	ORPHA:99646
Mismatch Repair Cancer Syndrome 4	Gray matter heterotopia, Adenomatous colonic polyposis, Colon cancer	OMIM:619101
Lethal Acantholytic Erosive Disorder	Camptodactyly of toe, Cardiomyopathy, Oligohydramnios, Cardiomegaly	ORPHA:158687
Branchiootic Syndrome	Branchial fistula	ORPHA:52429
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Elevated urinary 3-hydroxybutyric acid, Ketonuria, Abnormal urine sebacic acid concentration, Hyp...	OMIM:615751
Hyperlysinemia	Failure to thrive, Craniosynostosis, Argininuria, Recurrent pneumonia, Hyperammonemia, Cystinuria...	ORPHA:2203
Codas Syndrome	Delayed eruption of teeth, Congenital hip dislocation, Hydroureter, Ventricular septal defect, Ab...	ORPHA:1458
19Q13.11 Microdeletion Syndrome	Recurrent respiratory infections, Failure to thrive, Congenital hip dislocation, Ventricular sept...	ORPHA:217346
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Prolong...	OMIM:609040
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Abnormal circulating aldosterone, Reduced blood urea nitrogen, Hypernatriuria, Elev...	OMIM:300539
Cranioacrofacial Syndrome	Dupuytren contracture, Ventricular septal defect, Pulmonic stenosis	OMIM:122850
Cerebrocostomandibular Syndrome	Congenital hip dislocation, Ectopic kidney, Micrognathia, Renal cyst, Anteriorly placed anus, Glo...	OMIM:117650
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Ventricular septal defect, Patent ductus arteriosus, High palate, Thick vermilion border, Pulmona...	OMIM:620113
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Spinal a...	OMIM:600376
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Villous atrophy, Reticulocytopenia, 3-Methylglutaric aciduria, Renal Fancon...	OMIM:557000
Orofaciodigital Syndrome Type 6	Failure to thrive, Cerebellar vermis hypoplasia, Renal agenesis, Apnea, Hamartoma of tongue, Rena...	ORPHA:2754
Peters Plus Syndrome	Ureteral duplication, Short neck, Micrognathia, Bicuspid pulmonary valve, Abnormal pulmonary vein...	ORPHA:709
Oculocerebrofacial Syndrome, Kaufman Type	Respiratory distress, Chorioretinal dystrophy, Failure to thrive, Micrognathia, High, narrow pala...	ORPHA:2707
Neu-Laxova Syndrome	Skeletal muscle atrophy, Micrognathia, Flexion contracture, Pterygium, Pachygyria, Bifid uvula, D...	ORPHA:2671
Coffin-Siris Syndrome 12	Failure to thrive, Hypospadias, Facial palsy, Micrognathia, Celiac disease, Cryptorchidism, Hypot...	OMIM:619325
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio...	OMIM:611528
Congenital Disorder Of Glycosylation, Type Iit	Decreased HDL cholesterol concentration, Tented upper lip vermilion, Urinary incontinence, Pineal...	OMIM:618885
Bor Syndrome	Branchial cyst	ORPHA:107
Hemochromatosis, Type 3	Hypogonadotropic hypogonadism, Increased circulating ferritin concentration, Elevated transferrin...	OMIM:604250
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Abnormality of the knee, Abnormality of upper lip vermillion, Ventricular septal defect, Dental c...	ORPHA:251028
Occipital Horn Syndrome	Thick hair, Kyphosis, Platyspondyly, Coarse hair, Scoliosis	ORPHA:198
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Atrial septal defect, Anal stenosis, Tented upper lip vermilion, Aganglionic megacolon, Cleft pal...	OMIM:614749
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Dental crowding, Anterior pituitary hypoplasia, Bilateral cryptorchidism, High, narrow palate, Ch...	ORPHA:466791
Pyruvate Dehydrogenase Deficiency	Dyspnea, Tachypnea, High palate, Long philtrum, Lethargy	ORPHA:765
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities	Secundum atrial septal defect, Abnormal EKG, Pulmonic stenosis	OMIM:178650
Isolated Klippel-Feil Syndrome	Congenital muscular torticollis, Ventricular septal defect, Spina bifida, Short neck, Low posteri...	ORPHA:2345
Sotos Syndrome	Ureteral duplication, Cerebellar vermis hypoplasia, No permanent dentition, Flexion contracture, ...	ORPHA:821
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Curly hair, Short stature, Ataxia, Hyperlordosis, Hypertonia, Gait disturbance, Scoliosis, Failur...	OMIM:300986
Hemimegalencephaly	Optic atrophy, Gray matter heterotopia, Pachygyria, Polymicrogyria, Abnormal neuron morphology	ORPHA:99802
Weill-Marchesani Syndrome 2	Ventricular septal defect, Hypoplasia of the maxilla, Congestive heart failure, Patent ductus art...	OMIM:608328
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, ...	OMIM:603554
Cardiomyopathy, Dilated, 1A	Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, P...	OMIM:115200
Intellectual Developmental Disorder, Autosomal Dominant 47	Ventricular septal defect, Increased nuchal translucency, Small for gestational age, Cryptorchidism	OMIM:617635
Trisomy 10P	Absent gallbladder, Decreased muscle mass, Wide cranial sutures, Small for gestational age, Abnor...	ORPHA:171929
Beckwith-Wiedemann Syndrome	Hepatomegaly, Adrenocortical cytomegaly, Prominent metopic ridge, Diastasis recti, Cardiomegaly, ...	OMIM:130650
Fucosidosis	Hepatomegaly, Decreased muscle mass, Failure to thrive, Abnormality of the dentition, Cardiomegal...	ORPHA:349
Hypothyroidism, Congenital, Nongoitrous, 6	Delayed eruption of teeth, Increased body mass index, Congenital hip dislocation, Increased T3/T4...	OMIM:614450
Friedreich Ataxia	Abnormal EKG, Diabetes mellitus, Congestive heart failure, Optic atrophy, Hypertrophic cardiomyop...	OMIM:229300
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatomegaly, Ketonuria, Cyanosis, Apnea, Low plasma citrulline, Optic atrophy, Renal steatosis	OMIM:261680
Cyanosis, Transient Neonatal	Reticulocytosis, Hepatomegaly, Cyanosis, Jaundice, Methemoglobinemia, Anemia	OMIM:613977
Robinow Syndrome, Autosomal Recessive 1	Tented upper lip vermilion, Dental crowding, Short neck, Micrognathia, Nephrocalcinosis, Micropen...	OMIM:268310
Tetrasomy 18P	Narrow mouth, Abnormality of neuronal migration, Syncope, Thin vermilion border, Long philtrum, A...	ORPHA:3307
Florid Cemento-Osseous Dysplasia	Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Abnormal mandib...	ORPHA:83451
Holocarboxylase Synthetase Deficiency	Tachypnea, Hyperammonemia, Organic aciduria, Lethargy, Elevated urinary 3-methylcrotonylglycine l...	OMIM:253270
Coffin-Siris Syndrome 6	Wormian bones, Micrognathia, High, narrow palate, Deep philtrum, Cleft palate, Short philtrum, At...	OMIM:617808
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	Right ventricular dilatation, Ventricular tachycardia, First degree atrioventricular block, Left ...	OMIM:615616
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Lymphopenia, Failure to thrive, Sinusitis, Absence of lymph node germinal center, Recurrent pneum...	ORPHA:277
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Hypersplenism, Pancytopenia, Neutropenia in presence of anti-neutropil antibodies, Hepatosplenome...	ORPHA:228426
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Respiratory distress, Hypoventilation, Prominent metopic ridge, Tented upper lip vermilion, Apnea...	ORPHA:314655
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Retinal detachment, Death in infancy, Subcortical heterotopia, Agyria, Elevated ci...	OMIM:614643
Alström Syndrome	Respiratory distress, Abnormality of dental color, Urinary incontinence, Decreased response to gr...	ORPHA:64
19P13.3 Microduplication Syndrome	Ventricular septal defect, Unilateral cryptorchidism, Micrognathia, Precocious puberty, Hip dislo...	ORPHA:447980
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Cyanosis, Proteinuria, Failure to thrive in infancy, Chronic kidney disease, Genu valgum, Tubuloi...	ORPHA:488627
Cryoglobulinemia, Familial Mixed	Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Hy...	OMIM:123550
Fryns Syndrome	Ureteral duplication, Ectopic pancreatic tissue, Tented upper lip vermilion, Short neck, Large fo...	OMIM:229850
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Skeletal muscle atrophy, Tricuspid regurgitation, Cleft soft palate, Patent ductus arteriosus, Ao...	OMIM:614557
Telangiectasia, Hereditary Hemorrhagic, Type 4	Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v...	OMIM:610655
Cartilage-Hair Hypoplasia	Abnormality of retinal pigmentation, Hepatomegaly, Aganglionic megacolon, Short neck, Heart block...	ORPHA:175
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Ventricular septal defect, Nephroblastoma, Cutis marmorata, Leukemia, Polymicrogyria, Smooth phil...	OMIM:602501
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To	Low plasma citrulline, Hyperammonemia, Episodic ammonia intoxication, Stroke, Lethargy, Failure t...	OMIM:237300
Idiopathic Intracranial Hypertension	Papilledema, Obesity, Lethargy, Depression	ORPHA:238624
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Papilledema, Broad-based gait, Spontaneous, recurrent epistaxis, Cachexia, Paralysis, Thoracolumb...	ORPHA:2072
Secondary Hypoparathyroidism Due To Impaired Parathormon Secretion	Abnormal circulating calcium concentration, Abnormality of the parathyroid gland, Secondary hyper...	ORPHA:140286
Familial Multiple Nevi Flammei	Pulmonary embolism, Venous insufficiency, Intracranial hemorrhage, Arteriovenous malformation, Ar...	ORPHA:624
Pallister-Killian Syndrome	Congenital hip dislocation, Tented upper lip vermilion, Congenital diaphragmatic hernia, Short ne...	OMIM:601803
Microphthalmia With Limb Anomalies	Micrognathia, Venous insufficiency, Hypoplasia of the maxilla, Camptodactyly of 2nd-5th fingers, ...	ORPHA:1106
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment	Nephropathy, Elevated circulating creatinine concentration, Decreased glomerular filtration rate	OMIM:242530
Heart-Hand Syndrome Type 2	Abnormality of the wrist, Abnormality of the dentition, Cryptorchidism, Abnormality of the elbow,...	ORPHA:1350
Citrullinemia, Classic	Hepatomegaly, Failure to thrive, Hyperglutaminemia, Hyperammonemia, Episodic ammonia intoxication...	OMIM:215700
Nipah Virus Disease	Respiratory distress, Recurrent pharyngitis, Hypotension, Cough	ORPHA:99825
Cutis Laxa, Autosomal Recessive, Type Ia	Recurrent respiratory infections, Congenital diaphragmatic hernia, Vascular tortuosity, Bladder d...	OMIM:219100
Spondyloenchondrodysplasia	Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia	ORPHA:1855
Oculopharyngodistal Myopathy 1	Respiratory distress, Paroxysmal atrial fibrillation, Autophagic vacuoles, Elevated circulating c...	OMIM:164310
Brugada Syndrome 1	Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso...	OMIM:601144
Chromosome 2Q37 Deletion Syndrome	Obesity, Subvalvular aortic stenosis, Malar flattening, Arrhythmia, Hypothyroidism	OMIM:600430
Distal Duplication 6P	Abnormal hair quantity, Sacral dimple, Short stature, Short neck, Abnormal eyelash morphology, Ab...	ORPHA:1745
Costello Syndrome	Thickened nuchal skin fold, Ventricular septal defect, Abnormal dental enamel morphology, Failure...	ORPHA:3071
Alternating Hemiplegia Of Childhood	Respiratory distress, Facial hypotonia, Exaggerated cupid's bow, Cardiac conduction abnormality, ...	ORPHA:2131
Progressive Familial Heart Block, Type Ia	Sudden cardiac death, Dyspnea, Left posterior fascicular block, Right bundle branch block, Syncop...	OMIM:113900
Marden-Walker Syndrome	Skeletal muscle atrophy, Micrognathia, Epispadias, Bifid uvula, Abnormal penis morphology, Multic...	ORPHA:2461
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To	Failure to thrive, Elevated circulating uracil concentration, Hyperglutaminemia, Low plasma citru...	OMIM:311250
Hennekam-Beemer Syndrome	Telangiectasia of the skin, Camptodactyly of finger, Pneumonia, Micrognathia, Thick lower lip ver...	ORPHA:2135
Autosomal Recessive Malignant Osteopetrosis	Delayed eruption of teeth, Recurrent respiratory infections, Hepatomegaly, Apnea, Abnormal pulmon...	ORPHA:667
Klippel-Feil Syndrome 2, Autosomal Recessive	Limited neck range of motion, Ventricular septal defect, Low posterior hairline, Short neck	OMIM:214300
Tetraamelia Syndrome 2	Microretrognathia, Absent nipple, Ventricular septal defect, Bilateral cleft lip, Hypoplastic pul...	OMIM:618021
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Renal insufficiency, Stage 5 chronic kidney disease, Gout, Hypertension, Polycystic kidney dyspla...	OMIM:618061
Glutathionuria	Gray matter heterotopia, Asthma, Urinary incontinence, Glutathionuria	OMIM:231950
Lymphedema-Distichiasis Syndrome	Ventricular septal defect, Micrognathia, Cleft upper lip, Patent ductus arteriosus, Tetralogy of ...	OMIM:153400
Hyperphenylalaninemia, Bh4-Deficient, B	Limb hypertonia, Lethargy, Hyperphenylalaninemia	OMIM:233910
Radio-Tartaglia Syndrome	Thin upper lip vermilion, Ventricular septal defect, Dental crowding, Micrognathia, Precocious pu...	OMIM:619312
Intellectual Disability, Birk-Barel Type	Tented upper lip vermilion, Foot joint contracture, Spinal muscular atrophy, Micrognathia, High, ...	ORPHA:166108
Medulloblastoma	Cerebellar calcifications, Cerebellar hemorrhage, Adenomatous colonic polyposis, Neoplasm of the ...	ORPHA:616
Coffin-Siris Syndrome 4	Atrial septal defect, Everted upper lip vermilion, Thin upper lip vermilion, Ventricular septal d...	OMIM:614609
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Skeletal muscle atrophy, Acute hyperammonemia, Ketonuria, Hyperglycinuria, Hyperammonemia, Organi...	OMIM:210210
Phakomatosis Pigmentokeratotica	Nephroblastoma, Spina bifida, Rhabdomyosarcoma, Raynaud phenomenon, Precocious puberty, Cryptorch...	ORPHA:2874
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Ketonuria, Hyperlipidemia, Glycosuria, Lethargy, Failure to thrive	ORPHA:2089
Ventriculomegaly With Cystic Kidney Disease	Renal insufficiency, Ventricular septal defect, Gray matter heterotopia, Tubular luminal dilatati...	OMIM:219730
Agnathia-Otocephaly Complex	Respiratory distress, Tracheomalacia, Micrognathia, Secundum atrial septal defect, Situs inversus...	OMIM:202650
16Q24.3 Microdeletion Syndrome	Smooth philtrum, Ventricular septal defect, Optic nerve hypoplasia, Periventricular heterotopia, ...	ORPHA:261250
Ileal Neuroendocrine Tumor	Intestinal fistula, Tricuspid stenosis, Right ventricular failure, Arterial occlusion, Dermatolog...	ORPHA:100078
Feingold Syndrome 2	Ventricular septal defect	OMIM:614326
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Mandibular prognathia, Ventricular septal defect, Short neck, Cryptorchidism, Abnormal heart morp...	ORPHA:369891
Kabuki Syndrome 1	Joint dislocation, Congenital hip dislocation, Premature thelarche, Micrognathia, High palate, At...	OMIM:147920
Acalvaria	Spina bifida, Abnormal lung lobation, Abnormality of neuronal migration, Cleft palate, Aplasia/Hy...	ORPHA:945
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Hypospadias, Hypogonadotropic hypogonadism, Diastema, Cryptorchidism, Supernumerary tooth, Agenes...	OMIM:619718
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Tricuspid regurgitation, Ventricular septal defect, Pancreatic fibrosis, Retinal dystrophy, Hamar...	OMIM:263520
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease	Diabetes mellitus, Proteinuria, Abnormal cerebellum morphology, Cerebral artery atherosclerosis, ...	OMIM:209010
Hurler Syndrome	Aortic regurgitation, Recurrent respiratory infections, Short stature, Short neck, Hypoplasia of ...	OMIM:607014
Ring Chromosome Y Syndrome	Male infertility, Streak ovary, Short stature, Unilateral cryptorchidism, Female infertility, Cry...	ORPHA:261529
Hypouricemia, Renal, 1	Hypouricemia, Proteinuria, Elevated circulating creatinine concentration, Urolithiasis, Renal tub...	OMIM:220150
Ebola Hemorrhagic Fever	Gastrointestinal hemorrhage, Abnormal bleeding, Dyspnea, Melena, Leukopenia, Cough, Lethargy, Lym...	ORPHA:319218
Trichothiodystrophy 6, Nonphotosensitive	Broad-based gait, Brittle hair, Small for gestational age, Short stature, Slow-growing hair, Mild...	OMIM:616943
Purine Nucleoside Phosphorylase Deficiency	Cerebral vasculitis, Failure to thrive, Autoimmune hemolytic anemia, Recurrent urinary tract infe...	OMIM:613179
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Cryptorchidism, Patent ductus arteriosus, Ventricular septal defect	ORPHA:77298
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple...	ORPHA:232
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Eunuchoid habitus, Small hypothenar eminence, Hypoplasia of the musculature, Cardiomegaly, Thenar...	ORPHA:2463
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome	Wormian bones, Optic atrophy	ORPHA:2773
Nijmegen Breakage Syndrome	Skeletal muscle atrophy, Short neck, Deep philtrum, Hemolytic anemia, Abnormality of neuronal mig...	ORPHA:647
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Respiratory failure requiring assisted ventilation, Anuria, Thoracic aortic aneurysm, Ileal atres...	OMIM:619351
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f...	OMIM:604400
Hypodontia-Dysplasia Of Nails Syndrome	Abnormal fingernail morphology, Hypoplastic toenails, Fine hair, Thin toenail, Ridged fingernail,...	ORPHA:2228
Spinal Arteriovenous Metameric Syndrome	Kyphoscoliosis, Paraparesis, Abnormal spinal cord morphology, Congestive heart failure, Spinal ar...	ORPHA:53721
Renal Cysts And Diabetes Syndrome	Diabetes mellitus, Hypospadias, Proteinuria, Unilateral renal agenesis, Maturity-onset diabetes o...	OMIM:137920
Kaposi Sarcoma	Generalized lymphadenopathy, Abnormal retinal morphology, Venous insufficiency, Abnormality of th...	ORPHA:33276
Tangier Disease	Accelerated atherosclerosis, Orange discolored tonsils, Hypertriglyceridemia, Chronic noninfectio...	ORPHA:31150
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema	Respiratory distress, Tongue edema, Swollen lip, Abnormal capillary physiology, Angioedema, Eryth...	ORPHA:100057
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Cerebellar vermis hypoplasia, Ventricular septal defect, Short neck, Precocious puberty, Cryptorc...	OMIM:620073
Ritscher-Schinzel Syndrome 4	Curly hair, Ataxia, Short stature, Cryptorchidism, Chorea, Athetosis, Scoliosis	OMIM:619435
Martin-Probst Syndrome	Umbilical hernia, Pancytopenia	OMIM:300519
Edinburgh Malformation Syndrome	Micrognathia, Abnormality of neuronal migration, Respiratory insufficiency, Low posterior hairlin...	ORPHA:1895
Encephalopathy, Ethylmalonic	Death in infancy, Failure to thrive, Abnormal retinal vascular morphology, Elevated circulating b...	OMIM:602473
Autosomal Recessive Spastic Paraplegia Type 77	Neurogenic bladder, Detrusor sphincter dyssynergia, Urinary incontinence, Sudden episodic apnea, ...	ORPHA:466722
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Ventricular septal defect, Abnormality of the philtrum, Renal hypoplasia/aplasia, Non-midline cle...	ORPHA:1770
Adams-Oliver Syndrome 1	Encephalocele, Bicuspid aortic valve, Ventricular septal defect, Supernumerary nipple, Cleft uppe...	OMIM:100300
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Abnormal cerebral vascular morphology, Pulmonary embolism, Venous insufficiency, Retinopathy, Sub...	ORPHA:743
Retinal Capillary Malformation	Subretinal exudate, Central fundal arteriolar microaneurysms, Vitreous floaters, Epiretinal membr...	ORPHA:71213
Lethal Recessive Chondrodysplasia	Respiratory distress, Macroglossia, Flared elbow metaphyses, Micrognathia	ORPHA:1423
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Renal insufficiency, Dysuria, Elevated circulating creatinine concentration, Gout, Hyperuricosuri...	ORPHA:79233
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Apnea, Cardiorespiratory arrest, Hypotension, Lethargy, Limb hypertonia	OMIM:608643
Trigonocephaly-Short Stature-Developmental Delay Syndrome	Ventricular septal defect, Small for gestational age, Metopic suture patent to nasal root, Premat...	ORPHA:3369
48,Xxxy Syndrome	Recurrent respiratory infections, Short neck, Tremor, Cryptorchidism, Pulmonary embolism, Obesity...	ORPHA:96263
Opitz Gbbb Syndrome	Thin upper lip vermilion, Anal atresia, Cerebellar vermis hypoplasia, Hypospadias, Ventricular se...	OMIM:300000
Dubowitz Syndrome	Abnormality of neutrophils, Micrognathia, Rectal prolapse, High palate, Spina bifida occulta, Hyp...	ORPHA:235
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency	Warfarin-induced skin necrosis, Abnormal cerebral vascular morphology, Pulmonary embolism, Venous...	ORPHA:745
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Methylmalonic acidemia, Elevated urinary 3-hydroxybutyric acid, Tented upper lip vermilion, Periv...	OMIM:614105
Hypocalcemia, Autosomal Dominant 1	Decreased circulating parathyroid hormone level, Nephrolithiasis, Hypercalciuria, Nephrocalcinosi...	OMIM:601198
Hypotonia, Infantile, With Psychomotor Retardation	Ventricular septal defect, Respiratory insufficiency due to muscle weakness, Cryptorchidism, Myop...	OMIM:616816
Folinic Acid-Responsive Seizures	Cerebellar atrophy, Apnea, Optic atrophy, Respiratory distress	ORPHA:79097
Thymoma	Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis	ORPHA:99867
Early-Onset Autosomal Dominant Alzheimer Disease	Ataxia, Parkinsonism, Hypertonia, Myoclonus, Apraxia, Oculomotor apraxia, Abnormal social behavio...	ORPHA:1020
Ear-Patella-Short Stature Syndrome	Respiratory distress, Hypoplasia of penis, Micrognathia, Hypoplasia of the maxilla, Epispadias, H...	ORPHA:2554
Developmental Delay With Variable Neurologic And Brain Abnormalities	Micrognathia, Knee flexion contracture, Gray matter heterotopia, Widely spaced teeth, Camptodacty...	OMIM:619694
Carabelli Anomaly Of Maxillary Molar Teeth	Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition	OMIM:114700
Sick Sinus Syndrome 4	Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation...	OMIM:619464
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Mandibular prognathia, Absent frontal sinuses, Widely-spaced maxillary central incisors, Micropen...	OMIM:301040
Trigonocephaly With Short Stature And Developmental Delay	Ventricular septal defect, Small for gestational age, Sagittal craniosynostosis, Premature poster...	OMIM:314320
Clouston Syndrome	Alopecia, Brittle hair, Short stature, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Spa...	OMIM:129500
Oculodentodigital Dysplasia	Neurogenic bladder, Selective tooth agenesis, Microdontia, Carious teeth, Cleft upper lip, Premat...	OMIM:164200
Noonan Syndrome 3	Juvenile myelomonocytic leukemia, Ventricular septal defect, Sagittal craniosynostosis, Cryptorch...	OMIM:609942
Maple Syrup Urine Disease	Lethargy, Increased level of hippuric acid in urine, Elevated circulating branched chain amino ac...	OMIM:248600
Intellectual Developmental Disorder, Autosomal Recessive 71	Ventricular septal defect, Unilateral renal agenesis, Cryptorchidism, Increased overbite, Micropenis	OMIM:618504
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Premature adrenar...	ORPHA:293987
Liang-Wang Syndrome	Cerebellar atrophy, Thin upper lip vermilion, Diastema, Gingival overgrowth, Downturned corners o...	OMIM:618729
Cleidocranial Dysplasia	Delayed eruption of teeth, Recurrent respiratory infections, Mandibular prognathia, Sinusitis, Ab...	ORPHA:1452
Spondyloenchondrodysplasia With Immune Dysregulation	Recurrent respiratory infections, Purpura, Pneumonia, Autoimmune thrombocytopenia, Raynaud phenom...	OMIM:607944
Lissencephaly 5	Occipital encephalocele, Cerebellar vermis hypoplasia, Subcortical band heterotopia, Optic atroph...	OMIM:615191
Hereditary Central Diabetes Insipidus	Lethargy, Diabetes insipidus, Weight loss	ORPHA:30925
Meckel Syndrome, Type 4	Encephalocele, Agenesis of cerebellar vermis, Ventricular septal defect, Meningocele, Anencephaly...	OMIM:611134
Combined Oxidative Phosphorylation Deficiency 19	Respiratory distress, Hepatomegaly, Lacticaciduria, Stridor, Increased variability in muscle fibe...	OMIM:615595
Familial Bicuspid Aortic Valve	Aortic arch aneurysm, Bicuspid aortic valve, Aortic valve calcification, Coarctation of aorta, As...	ORPHA:402075
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Prominent fingertip pads, Branchial anomaly, Brachydactyly, Short palm	ORPHA:466950
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Dehydration, Mac...	ORPHA:96191
Rubinstein-Taybi Syndrome 2	Intestinal malrotation, Micrognathia, Carious teeth, Talon cusp, Dental malocclusion, Narrow pala...	OMIM:613684
Ectodermal Dysplasia 4, Hair/Nail Type	Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod...	OMIM:602032
Congenital Myopathy 22B, Severe Fetal	Respiratory distress, Tented upper lip vermilion, Dental crowding, Short neck, Micrognathia, Flex...	OMIM:620369
Coffin-Siris Syndrome 1	Congenital diaphragmatic hernia, Ectopic kidney, Conical tooth, Short philtrum, High palate, Micr...	OMIM:135900
Familial Short Qt Syndrome	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope...	ORPHA:51083
Autosomal Dominant Spastic Paraplegia Type 10	Distal lower limb amyotrophy, Dupuytren contracture, Spastic/hyperactive bladder, Upper limb amyo...	ORPHA:100991
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Ventricular septal defect, Short neck, Cryptorchidism, Decreased body weight, Atrial septal defec...	OMIM:617452
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Cerebellar atrophy, Respiratory distress, Flexion contracture, Hypodontia, Failure to thrive	ORPHA:544503
Osteogenesis Imperfecta, Type X	Respiratory distress, Micrognathia, Pyloric stenosis, Recurrent pneumonia, Nephrolithiasis, Genu ...	OMIM:613848
Orthostatic Hypotension 2	Anemia, Orthostatic hypotension, Decreased glomerular filtration rate	OMIM:618182
Pseudopseudohypoparathyroidism	Delayed eruption of teeth, Short neck, Obesity, Pseudohypoparathyroidism, Enamel hypoplasia	OMIM:612463
Pili Torti	Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ...	ORPHA:2889
Cranioectodermal Dysplasia 3	Sagittal craniosynostosis, Micrognathia, Stage 5 chronic kidney disease, Hypoplasia of teeth, Ect...	OMIM:614099
Multiple Myeloma	Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Lymphadenopathy, Abno...	ORPHA:29073
Breath-Holding Spells	Iron deficiency anemia, Cyanosis	OMIM:607578
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Vocal cord paralysis, Optic atrophy, Increased cup-to-disc ratio, Myoclonus, Scoliosis, Dystonia,...	ORPHA:500144
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Ventricular septal defect, Hypoplastic left heart, Anencephaly, Spina bifida	ORPHA:2476
Angioma Serpiginosum, X-Linked	Sparse hair, Nail dystrophy, Fine hair	OMIM:300652
Microlissencephaly-Micromelia Syndrome	Hypoparathyroidism, Respiratory distress, Short neck, Fetal pyelectasis, Abnormal circulating cal...	ORPHA:50810
Ataxia With Vitamin E Deficiency	Skeletal muscle atrophy, Abnormality of retinal pigmentation, Diabetes mellitus, Arrhythmia, Hype...	ORPHA:96
Spondylo-Ocular Syndrome	Retinal detachment, Ventricular septal defect, Short neck, Low posterior hairline, Webbed neck	ORPHA:85194
Pfeiffer Syndrome Type 3	Respiratory distress, Intestinal malrotation, Tracheomalacia, Aqueductal stenosis, Cleft palate, ...	ORPHA:93260
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Ventricular septal defect, Cryptorchidism, Coarctation of aorta, Hypoplastic left heart, Tetralog...	OMIM:618748
American Trypanosomiasis	Hepatomegaly, Aganglionic megacolon, Myocarditis, Congestive heart failure, Splenomegaly, Dyspnea...	ORPHA:3386
Joubert Syndrome	Encephalocele, Cerebellar vermis hypoplasia, Aganglionic megacolon, Apnea, Episodic tachypnea, Ab...	ORPHA:475
Crandall Syndrome	Alopecia, Brittle hair, Fine hair, Hypogonadism, Pili torti, Abnormal testis morphology, Sparse b...	ORPHA:202
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Mandibular prognathia, Microretrognathia, Thin upper lip vermilion, Hypospadias, Ventricular sept...	ORPHA:459070
Wiedemann-Rautenstrauch Syndrome	Optic disc hypoplasia, Decreased response to growth hormone stimulation test, Congenital malforma...	ORPHA:3455
Galloway-Mowat Syndrome	Proteinuria, Camptodactyly of finger, Micrognathia, Abnormality of the dentition, Hiatus hernia, ...	ORPHA:2065
Abetalipoproteinemia	Decreased HDL cholesterol concentration, Cardiomegaly, Hypoalbuminemia, Hypocholesterolemia, Hypo...	ORPHA:14
Teebi-Shaltout Syndrome	Ureteral stenosis, Ventricular septal defect, Prominent palatine ridges, High, narrow palate, Nar...	OMIM:272950
Aneurysm Of Sinus Of Valsalva	Aortic regurgitation, Congestive heart failure, Dyspnea, Oliguria, Heart murmur, Stroke, Bacteria...	ORPHA:1054
Cardiofaciocutaneous Syndrome	Brittle hair, Short stature, Failure to thrive in infancy, Slow-growing hair, Short neck, Abnorma...	ORPHA:1340
Cushing Disease	Plethora, Adrenal hyperplasia, Myocardial infarction, Pituitary corticotropic cell adenoma, Incre...	ORPHA:96253
Ethylmalonic Encephalopathy	Abnormal brainstem MRI signal intensity, Acrocyanosis, Ethylmalonic aciduria, Retinal vascular to...	ORPHA:51188
Cardiofaciocutaneous Syndrome 2	Curly hair, Peripheral axonal neuropathy, Absent eyebrow, Fine hair, Sparse hair	OMIM:615278
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Occipital encephalocele, Optic atrophy, Gray matter heterotopia, Dysgyria, Hypoplasia of the brai...	ORPHA:352682
Cutis Laxa, Autosomal Recessive, Type Iiia	Wide cranial sutures, Congenital hip dislocation, Prominent superficial blood vessels, Cryptorchi...	OMIM:219150
Hemihyperplasia-Multiple Lipomatosis Syndrome	Telangiectasia of the skin, Abnormal cerebral vascular morphology, Abnormality of the lymphatic s...	ORPHA:276280
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Lethargy, Medium chain dicarboxylic aciduria, Hyperglycinuria, Hepatomegaly	OMIM:201450
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication	Small for gestational age, Short stature, Postnatal growth retardation, Fine hair, Long eyelashes...	ORPHA:231137
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1	Urinary incontinence, Vascular granular osmiophilic material deposition, Lacunar stroke, Varicose...	OMIM:125310
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Methylmalonic aciduria, Hyperhom...	OMIM:277410
Hawkinsinuria	Sparse hair, Failure to thrive, Fine hair	ORPHA:2118
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Respiratory distress, Micrognathia, Thin vermilion border, Short philtrum, Failure to thrive	ORPHA:261304
Vitreoretinopathy, Neovascular Inflammatory	Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po...	OMIM:193235
Rothmund-Thomson Syndrome	Calcinosis, Delayed eruption of teeth, Aplastic anemia, Telangiectasia of the skin, Abnormal dent...	ORPHA:2909
Fructose Intolerance, Hereditary	Gastrointestinal hemorrhage, Transient aminoaciduria, Hyperphosphaturia, Hepatomegaly, Jaundice, ...	OMIM:229600
Cardiofaciocutaneous Syndrome 1	Absent eyebrow, Peripheral axonal neuropathy, Curly hair, Short stature, Slow-growing hair, Short...	OMIM:115150
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Ventricular septal defect, Micrognathia, Short neck, Large fontanelles, Downturned corners of mou...	ORPHA:93267
Kniest Dysplasia	Respiratory distress, Hip contracture, Retinal detachment, Enlarged joints, Short neck, Hip dislo...	OMIM:156550
Clark-Baraitser syndrome	Exaggerated median tongue furrow, Genu recurvatum, Thick lower lip vermilion, Obesity, Genu valgu...	OMIM:300602
Down Syndrome	Redundant neck skin, Atrial septal defect, Atrioventricular canal defect, Hypothyroidism, Patent ...	OMIM:190685
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears	Sparse hair, Woolly hair	OMIM:278200
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Curly hair, Short stature, Curly eyelashes, Short neck, Multiple rows of eyelashes, Cryptorchidis...	ORPHA:163654
Donnai-Barrow Syndrome	Retinal detachment, Proteinuria, Ventricular septal defect, Congenital diaphragmatic hernia, Reti...	OMIM:222448
Proteasome-Associated Autoinflammatory Syndrome 1	Decreased HDL cholesterol concentration, Skeletal muscle atrophy, Elevated circulating C-reactive...	OMIM:256040
Mitochondrial Phosphate Carrier Deficiency	Hypertrophic cardiomyopathy, Abnormal mitochondrial shape, Respiratory insufficiency, Cyanosis	OMIM:610773
Foix-Alajouanine Syndrome	Distal lower limb amyotrophy, Neurogenic bladder, Urinary incontinence, Myelopathy, Functional ab...	ORPHA:79093
Peroxisome Biogenesis Disorder 13A (Zellweger)	Hepatomegaly, Dicarboxylic aciduria, Delayed closure of the anterior fontanelle, Micrognathia, Co...	OMIM:614887
Steinert Myotonic Dystrophy	Skeletal muscle atrophy, Handgrip myotonia, Tented upper lip vermilion, Prolonged QRS complex, De...	ORPHA:273
Restrictive Dermopathy	Ureteral duplication, Multiple joint contractures, Micrognathia, Atrial septal defect, Hypospadia...	ORPHA:1662
Autosomal Dominant Robinow Syndrome	Hypoplasia of penis, Short neck, Micrognathia, Epispadias, Abnormality of the gingiva, High, narr...	ORPHA:3107
Silver-Russell Syndrome	Decreased muscle mass, Hypospadias, Dental crowding, Cachexia, Micrognathia, Precocious puberty, ...	ORPHA:813
Sting-Associated Vasculopathy, Infantile-Onset	Recurrent respiratory infections, Skeletal muscle atrophy, Myositis, Cutis marmorata, Failure to ...	OMIM:615934
Chiari Malformation Type Ii	Cyanosis, Spina bifida, Myelomeningocele, Gray matter heterotopia, Cervical myelopathy, Chiari ma...	OMIM:207950
Niemann-Pick Disease Type C	Tremor, Chorea, Abnormal lung morphology, Abnormal pyramidal sign, Progressive gait ataxia, Aspir...	ORPHA:646
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Truncal obesity, Arrhythmia, Camptodactyly of finger, Furrowed tongue	ORPHA:2928
Thakker-Donnai Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Short neck, Narrow mouth, Tracheoesop...	ORPHA:1780
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome	Lower limb spasticity, Optic nerve hypoplasia, Fine hair, Inappropriate laughter, Intrauterine gr...	ORPHA:363686
Bangstad Syndrome	Abnormality of the dentition, Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ...	ORPHA:1227
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Lymphopenia, Hepatomegaly, Limited elbow movement, Micrognathia, Craniosynostosis, Decreased prop...	ORPHA:508533
Trichorhinophalangeal Syndrome, Type I	Recurrent respiratory infections, Scapular winging, Short stature, Thin nail, Slow-growing hair, ...	OMIM:190350
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Short stature, Slow-growing hair, Short neck, Abnormal hair morphology, Kyphosis, Cryptorchidism,...	ORPHA:3082
Pitt-Hopkins Syndrome	Failure to thrive, Aganglionic megacolon, Supernumerary nipple, Short neck, Hiatus hernia, Crypto...	ORPHA:2896
Auriculocondylar Syndrome	Respiratory distress, Abnormality of the temporomandibular joint, Dental crowding, Hamartoma of t...	ORPHA:137888
Hallermann-Streiff Syndrome	Natal tooth, Micrognathia, Abnormality of the dentition, Congestive heart failure, Cryptorchidism...	ORPHA:2108
Distal Duplication 5Q	Ventricular septal defect, Hypospadias, Dextrocardia, Micrognathia, Carious teeth, Cryptorchidism...	ORPHA:96097
Congenital Disorder Of Deglycosylation 1	Respiratory distress, Recurrent respiratory infections, Hepatomegaly, Dilation of Virchow-Robin s...	OMIM:615273
Noonan Syndrome 6	Curly hair, Short stature, Long eyebrows, Short neck, Cryptorchidism, Low posterior hairline, Gro...	OMIM:613224
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, Anterior pituitary hypoplasia, Micrognathia, Knee flexion contracture, Ant...	OMIM:151050
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Mandibular prognathia, Ventricular septal defect, Cleft palate, Downturned corners of mouth, Ecto...	ORPHA:94066
Aicardi-Goutieres Syndrome 7	Hemolytic anemia, Pancytopenia, Pericardial effusion, Splenomegaly, Anemia, Hypertrophic cardiomy...	OMIM:615846
Neurofibromatosis, Type I	Rhabdomyosarcoma, Spina bifida, Aqueductal stenosis, Genu valgum, Hypertension, Pheochromocytoma,...	OMIM:162200
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type	Arrhythmia	ORPHA:1808
Neonatal Adrenoleukodystrophy	Abnormality of retinal pigmentation, Wide anterior fontanel, Optic atrophy, Primary adrenal insuf...	ORPHA:44
Acrogeria	Telangiectasia of the skin, Short stature, Scoliosis, Fine hair	ORPHA:2500
Woolly Hair, Autosomal Recessive 3	Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa	OMIM:616760
Pseudohypoparathyroidism, Type Ib	Pseudohypoparathyroidism, Obesity, Hyperphosphatemia, Elevated circulating parathyroid hormone le...	OMIM:603233
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Ventricular septal defect, Short neck, Cryptorchidism, Decreased body weight, Atrial septal defec...	ORPHA:505237
Loeys-Dietz Syndrome	Abnormal bleeding, Joint dislocation, Cardiac arrest, Camptodactyly of finger, Arterial tortuosit...	ORPHA:60030
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Respiratory distress, Carious teeth, Retinal pigment epithelial mottling, Flat acetabular roof, T...	OMIM:617102
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Appendicular spasticity, Short neck, Synophrys, Obesity, Fine hair, Thoracic kyphosis, Long eyela...	OMIM:620250
Cutis Laxa, Autosomal Dominant 1	Aortic regurgitation, Ventricular septal defect, Prematurely aged appearance, Poor wound healing,...	OMIM:123700
Osteoglophonic Dysplasia	Delayed eruption of teeth, Mandibular prognathia, Respiratory distress, Hypospadias, Camptodactyl...	OMIM:166250
Noonan Syndrome 14	Aortic regurgitation, Scapular winging, Short neck, Cryptorchidism, High, narrow palate, Low post...	OMIM:619745
Thauvin-Robinet-Faivre Syndrome	Renal malrotation, Transient neutropenia, Ventricular septal defect, Large for gestational age, R...	OMIM:617107
Pycnodysostosis	Obtuse angle of mandible, Persistent open anterior fontanelle, Decreased response to growth hormo...	ORPHA:763
Monilethrix	Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:158000
Mccune-Albright Syndrome	Pancytopenia, Bone marrow hypocellularity	ORPHA:562
Gomez-Lopez-Hernandez Syndrome	Fusion of the cerebellar hemispheres, Bipolar affective disorder, Cerebellar vermis hypoplasia, D...	OMIM:601853
Pheochromocytoma--Islet Cell Tumor Syndrome	Tachycardia, Hypertensive retinopathy, Proteinuria, Hypercalcemia, Cerebral hemorrhage, Elevated ...	OMIM:171420
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Multicystic kidney dysplasia, Transient neutropenia, Ventricular septal defect...	ORPHA:500095
Renpenning Syndrome 1	Mandibular prognathia, Micrognathia, Coloboma, High palate, Short philtrum, Death in childhood, A...	OMIM:309500
Senior-Loken Syndrome 1	Renal insufficiency, Retinal dystrophy, Polyuria, Thickening of the tubular basement membrane, Im...	OMIM:266900
Dravet Syndrome	Limited neck range of motion, Bradykinesia, Cyanotic episode, Limited knee extension	ORPHA:33069
Carpenter Syndrome 2	Short neck, Bilateral cryptorchidism, High, narrow palate, Knee flexion contracture, High palate,...	OMIM:614976
Fanconi Renotubular Syndrome 3	Hyperphosphaturia, Elevated circulating creatinine concentration, Glycosuria, Aminoaciduria, Low-...	OMIM:615605
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Respiratory distress, Ventricular septal defect, Respiratory failure, Pulmonary hypoplasia, Long ...	OMIM:617895
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Hepatomegaly, Failure to thrive, Tachypnea, Chorioretinal atrophy, Hyperammonemia, Hyperornithine...	ORPHA:415
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Renal insufficiency, Gout, Hyperuricemia, Renal tubular atrophy, Nephropathy, Nephritis, Decrease...	OMIM:162000
Nocardiosis	Respiratory distress, Liver abscess, Lymphadenitis, Nonproductive cough, Emphysema, Brain abscess...	ORPHA:31204
Succinic Acidemia	Respiratory distress	OMIM:600335
Progressive Supranuclear Palsy-Corticobasal Syndrome	Bradykinesia, Respiratory distress	ORPHA:240103
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Ventricular septal defect, Craniosynostosis, Micrognathia, Renal cyst, Horseshoe kidney, Hypoauto...	OMIM:250410
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Wormian bones, Optic atrophy	ORPHA:2787
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hepatomegaly, Perianal erythema, Splenomegaly, Hypogeusia, Decreased serum zinc, Hypogonadism, Pe...	OMIM:201100
Ciliary Dyskinesia, Primary, 2	Respiratory distress, Recurrent respiratory infections, Sinusitis, Dextrocardia, Situs inversus t...	OMIM:606763
Yunis-Varon Syndrome	Redundant neck skin, Congenital hip dislocation, Cerebellar vermis hypoplasia, Micrognathia, Shor...	OMIM:216340
1p36 microdeletion syndrome	Delayed cranial suture closure	DECIPHER:18
Pseudohypoaldosteronism Type 2	Short stature, Periodic paralysis, Growth delay, Hypertension, Muscle weakness	ORPHA:757
Hydrolethalus Syndrome 1	Accessory spleen, Median cleft lip, Hypospadias, Ventricular septal defect, Abnormal cortical gyr...	OMIM:236680
Monilethrix	Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h...	ORPHA:573
Gaucher Disease	Pancytopenia, Mitral valve calcification, Abnormal heart valve morphology, Abnormal pericardium m...	ORPHA:355
Acromelic Frontonasal Dysostosis	Encephalocele, U-Shaped upper lip vermilion, Dilation of Virchow-Robin spaces, Remnants of the hy...	OMIM:603671
Chronic Pneumonitis Of Infancy	Respiratory distress, Cyanosis, Intercostal retractions, Ground-glass opacification, Reduced forc...	ORPHA:91359
Polymicrogyria Due To Tubb2B Mutation	Cerebellar atrophy, Hypoplasia of the pons, Perisylvian polymicrogyria, Abnormal brainstem morpho...	ORPHA:300573
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Short stature, Abnormality of hair texture, Spastic tetraplegia, Athetosis, Hypertonia, Hypogonad...	ORPHA:79351
Leber Congenital Amaurosis	Encephalocele, Abnormality of retinal pigmentation, Aplasia/Hypoplasia of the cerebellar vermis, ...	ORPHA:65
Trichothiodystrophy 1, Photosensitive	Death in infancy, Brittle hair, Small for gestational age, Short stature, Trichoschisis, Flexion ...	OMIM:601675
Incisors, Shovel-Shaped	Shovel-shaped maxillary central incisors	OMIM:147400
Pelger-Huet Anomaly	Ventricular septal defect, Abnormality of neutrophils, Abnormality of the dentition, Thrombocytop...	OMIM:169400
Jacobsen Syndrome	U-Shaped upper lip vermilion, Recurrent respiratory infections, Hypospadias, Ventricular septal d...	OMIM:147791
Cohen Syndrome	Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Short philtrum, Neutropenia, Iris c...	ORPHA:193
Zollinger-Ellison Syndrome	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Elevated circulating parathyroid hormo...	ORPHA:913
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Respiratory distress, Macrocytic anemia, Congenital diaphragmatic hernia, Micrognathia, Cleft pal...	OMIM:606164
Methemoglobinemia And Ambiguous Genitalia	Cyanosis, Scrotal hypospadias, Hypospadias, Elevated circulating luteinizing hormone level, Decre...	OMIM:250790
Desbuquois Syndrome	Ventricular septal defect, Short neck	ORPHA:1425
Proboscis Lateralis	Aplasia/Hypoplasia of the maxilla, Ventricular septal defect, Optic nerve hypoplasia, Unilateral ...	ORPHA:141099
Atrial Fibrillation, Familial, 11	Reduced left ventricular ejection fraction, Prolonged P wave, Atrial fibrillation, Prolonged QRS ...	OMIM:614049
Cerebral Cavernous Malformations 3	Cerebral hemorrhage, Paralysis	OMIM:603285
Rothmund-Thomson Syndrome, Type 2	Delayed eruption of teeth, Mandibular prognathia, Congenital hip dislocation, Small for gestation...	OMIM:268400
Branchiooculofacial Syndrome	Short neck, Micrognathia, Renal cyst, Premature graying of hair, Ectopic thymus tissue, Iris colo...	OMIM:113620
Loeys-Dietz Syndrome 2	Bicuspid aortic valve, Micrognathia, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve...	OMIM:610168
Otopalatodigital Syndrome, Type Ii	Wormian bones, Congenital hip dislocation, Hypospadias, Elbow contracture, Spina bifida, Short ne...	OMIM:304120
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K	Hand muscle atrophy, Skeletal muscle atrophy, Arrhythmia	ORPHA:99944
Alpha-Mannosidosis, Infantile Form	Umbilical hernia, Pancytopenia, Hepatosplenomegaly	ORPHA:309282
Crigler-Najjar Syndrome	Lethargy, Jaundice	ORPHA:205
Netherton Syndrome	Recurrent respiratory infections, Sparse scalp hair, Short stature, Sparse eyelashes, Sparse eyeb...	ORPHA:634
Short Qt Syndrome 2	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul...	OMIM:609621
Koolen-De Vries Syndrome	Vertebral fusion, Hypopigmentation of hair, Short stature, Abnormality of hair texture, Kyphosis,...	ORPHA:96169
2Q32Q33 Microdeletion Syndrome	Short stature, Fine hair, Growth delay, Sparse hair, Decreased testicular size	ORPHA:251019
Lateral Meningocele Syndrome	Craniofacial hyperostosis, Prominent metopic ridge, Ventricular septal defect, Dental crowding, S...	ORPHA:2789
Loeys-Dietz Syndrome 6	Ventricular hypertrophy, Carotid artery dissection, Thoracic aortic aneurysm, Knee osteoarthritis...	OMIM:619656
Tyshchenko Syndrome	Ventricular septal defect, Supernumerary nipple, Cryptorchidism, High, narrow palate, Narrow pala...	OMIM:615102
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Peripheral axonal neuropathy, Brittle hair, Sparse eyebrow, Hydrocele testis, Hypertrophic cardio...	OMIM:618810
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Liver abscess, Atelectasis, Lymphadenitis, Recurrent pneumonia, Splenomegaly, Lymph...	OMIM:306400
Osteogenesis Imperfecta, Type Xiii	Skeletal muscle atrophy, Dentinogenesis imperfecta, Enuresis nocturna, Thin vermilion border, Lon...	OMIM:614856
Autosomal Dominant Hypocalcemia	Congestive heart failure, Optic atrophy, Hypercalciuria, Depression, Nephrocalcinosis, Hyperphosp...	ORPHA:428
Aortic Valve Disease 1	Ventricular septal defect, Bicuspid aortic valve, Mitral stenosis, Mitral atresia, Aortic valve c...	OMIM:109730
Genetic Transient Congenital Hypothyroidism	Increased circulating thyroglobulin level, Abnormal radioactive iodine uptake test result, Thyroi...	ORPHA:226316
Adnp Syndrome	Respiratory distress, Thin upper lip vermilion, Recurrent urinary tract infections, Urinary incon...	ORPHA:404448
Generalized Pustular Psoriasis	Hyponatremia, Renal insufficiency, Elevated circulating C-reactive protein concentration, Overwei...	ORPHA:247353
Combined Immunodeficiency-Enteropathy Spectrum	Autoimmune hemolytic anemia, Ventricular septal defect, Intestinal malrotation, Intestinal atresi...	ORPHA:436252
Floating-Harbor Syndrome	Short neck, Glandular hypospadias, Nephrocalcinosis, Downturned corners of mouth, Short philtrum,...	OMIM:136140
Insulin-Like Growth Factor I, Resistance To	Reduced subcutaneous adipose tissue, Thin upper lip vermilion, Decreased body weight, Diabetes me...	OMIM:270450
Cushing Syndrome Due To Ectopic Acth Secretion	Plethora, Adrenal hyperplasia, Neoplasm of the stomach, Myocardial infarction, Pituitary corticot...	ORPHA:99889
Progressive Familial Heart Block, Type Ii	Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin...	OMIM:140400
Trichohepatoenteric Syndrome 2	Brittle hair, Small for gestational age, Woolly hair, Uncombable hair, Sparse hair, Intrauterine ...	OMIM:614602
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Ventricular septal defect, Small for gestational age, Large for gestational age, Large placenta, ...	ORPHA:254534
Neu-Laxova Syndrome 1	Short neck, Micrognathia, Swollen lip, Neonatal death, Pterygium, Patent foramen ovale, Dandy-Wal...	OMIM:256520
Spinocerebellar Ataxia, Autosomal Recessive 33	Dilated fourth ventricle, Cerebellar hypoplasia, Arrhythmia, Simplified gyral pattern	OMIM:620208
Osteogenesis Imperfecta, Type Vii	Death in infancy, Wide cranial sutures, Protrusio acetabuli, Hypoplastic pulmonary veins, Wide an...	OMIM:610682
Hypotrichosis Simplex Of The Scalp	Abnormal eyebrow morphology, Sparse scalp hair, Absent facial hair, Abnormality of the pubic hair...	ORPHA:90368
Drug-Induced Autoimmune Hemolytic Anemia	Abnormal urinary color, Tachycardia, Autoimmune hemolytic anemia, Congestive heart failure, Splen...	ORPHA:90037
Oculoauriculofrontonasal Syndrome	Encephalocele, Ventricular septal defect, Micrognathia, Cleft lip, Cleft palate, Narrow mouth, Br...	ORPHA:398156
Premature Ovarian Failure 6	Streak ovary, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea, Primary ...	OMIM:612310
Hereditary Fructose Intolerance	Hepatomegaly, Renal insufficiency, Jaundice, Chronic kidney disease, Hypermagnesemia, Hyperuricem...	ORPHA:469
Fg Syndrome 3	Death in infancy, Cryptorchidism, Fine hair, Frontal upsweep of hair, Sparse hair, Joint contracture	OMIM:300406
Cutis Laxa, Autosomal Recessive, Type Iib	Prominent superficial veins, Congenital hip dislocation, Decreased muscle mass, Failure to thrive...	OMIM:612940
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Lymphedema, Cardiomegaly	ORPHA:79280
Noonan Syndrome 7	Curly hair, Short stature, Short neck, Large for gestational age, Low posterior hairline, Growth ...	OMIM:613706
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Sinusitis, Micrognathia, High palate, Atrial septal defect, Abnormal dental pulp morphology, Pate...	ORPHA:363700
Angioosteohypotrophic Syndrome	Prominent superficial veins, Telangiectasia of the skin, Venous malformation	ORPHA:75508
Chromosome 15Q14 Deletion Syndrome	Tented upper lip vermilion, Ventricular septal defect, Cleft lip, Cleft palate, Short philtrum, E...	OMIM:616898
Short Qt Syndrome 1	Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync...	OMIM:609620
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Respiratory distress, Recurrent respiratory infections, Abnormality of the philtrum, Aplasia/Hypo...	ORPHA:2759
Duplication Of The Pituitary Gland	Encephalocele, Abnormal midbrain morphology, Short neck, Supernumerary tooth, Abnormality of mass...	ORPHA:314621
Osteopetrosis With Renal Tubular Acidosis	Pancytopenia, Anemia, Leukopenia, Elliptocytosis, Bone marrow hypocellularity, Thrombocytopenia	ORPHA:2785
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Curly hair, Kyphoscoliosis, Sparse eyebrow, Synophrys, Sparse hair, Parietal cortical atrophy	OMIM:620075
Brugada Syndrome 2	Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr...	OMIM:611777
Glycerol Kinase Deficiency	Adrenocortical hypoplasia, Increased urinary glycerol, Hypertriglyceridemia, Small for gestationa...	OMIM:307030
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Brittle hair, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Progressive hypotric...	OMIM:225060
Atkin-Flaitz Syndrome	Abnormality of the dentition, Obesity, Thick vermilion border, Everted lower lip vermilion, Macro...	ORPHA:1193
Brugada Syndrome 3	Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar...	OMIM:611875
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Tachycardia, Periodic paralysis, Rhabdomyolysis, Weight loss, Palpitations, Muscle weakness	OMIM:188580
Exudative Vitreoretinopathy 4	Peripheral retinal avascularization, Posterior vitreous detachment, Exudative vitreoretinopathy, ...	OMIM:601813
Hypokalemic Periodic Paralysis, Type 2	Episodic flaccid weakness, Myopathy, Periodic paralysis	OMIM:613345
Generalized Pseudohypoaldosteronism Type 1	Hyponatremia, Failure to thrive in infancy, Glucocortocoid-insensitive primary hyperaldosteronism...	ORPHA:171876
Osteopenia-Intellectual Disability-Sparse Hair Syndrome	Postnatal growth retardation, Sparse scalp hair, Fine hair	ORPHA:2324
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Recurrent urinary tract infections, Redundant neck skin, Dental crowding, Failure to thrive, Shor...	OMIM:617157
Premature Ovarian Failure 13	Oligomenorrhea, Female infertility, Amenorrhea	OMIM:617442
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant	Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Fine hair, Sparse hair	OMIM:129490
Keutel Syndrome	Peripheral pulmonary artery stenosis, Sinusitis, Ventricular septal defect, Miscarriage, Deep phi...	OMIM:245150
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Broad eyebrow, Highly arched eyebrow, Corpus callosum atrophy, Kyphosis, Cryptorchidism, Low ante...	OMIM:619244
Immunodeficiency 87 And Autoimmunity	Atrophic gastritis, Villous atrophy, Elevated circulating C-reactive protein concentration, Atria...	OMIM:619573
Isolated Permanent Neonatal Diabetes Mellitus	Prominent metopic ridge, Ketonuria, Neonatal insulin-dependent diabetes mellitus, Failure to thri...	ORPHA:99885
Fanconi Renotubular Syndrome 2	Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Renal phosphate wast...	OMIM:613388
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Ventricular septal defect, Pyloric stenosis, Asthma, Pulmonic stenosis, Camptodactyly, Atrial sep...	OMIM:614262
Larsen Syndrome	Vertebral fusion, Ventricular septal defect, Tracheomalacia, Cleft upper lip, Elbow dislocation, ...	OMIM:150250
Johanson-Blizzard Syndrome	Conjugated hyperbilirubinemia, Downturned corners of mouth, Anteriorly placed anus, Hypocalcemia,...	OMIM:243800
Wiskott-Aldrich Syndrome	Large vessel vasculitis, Iron deficiency anemia, Inflammation of the large intestine, Nephropathy...	OMIM:301000
Resistance To Thyrotropin-Releasing Hormone Syndrome	Reduced circulating prolactin concentration, Goiter, Overweight, Elevated circulating thyroid-sti...	ORPHA:99832
Temtamy Preaxial Brachydactyly Syndrome	Proximal radio-ulnar synostosis, Abnormal spaced incisors, Tarsal synostosis, Micrognathia, Hypop...	ORPHA:363417
S-Adenosylhomocysteine Hydrolase Deficiency	Poor head control, Abnormality of hair texture, Growth delay, Cardiomyopathy, Muscular dystrophy,...	ORPHA:88618
Premature Ovarian Failure 20	Secondary amenorrhea, Female infertility	OMIM:619938
Laryngotracheal Angioma	Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough	ORPHA:137935
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	Joint dislocation, Camptodactyly of finger, High, narrow palate, Submucous cleft hard palate, Abn...	ORPHA:3201
Premature Aging Syndrome, Penttinen Type	Delayed eruption of teeth, Prominent superficial veins, Failure to thrive, Prematurely aged appea...	OMIM:601812
Von Willebrand Disease	Venous insufficiency, Abnormal mitral valve morphology	ORPHA:903
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5	Cerebellar atrophy, Arrhythmia, Mildly reduced left ventricular ejection fraction, Elevated circu...	OMIM:618098
Mucolipidosis Type Ii	Aortic regurgitation, Hip contracture, Recurrent respiratory infections, Dry hair, Short stature,...	ORPHA:576
Hypokalemic Periodic Paralysis, Type 1	Episodic flaccid weakness, Myopathy, Muscle weakness, Periodic paralysis	OMIM:170400
Hypocalcemic Vitamin D-Dependent Rickets	Delayed eruption of teeth, Enlargement of the ankles, Wide cranial sutures, Enlargement of the wr...	ORPHA:289157
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Generalized muscle weakness, Hand tremor, Periodic paralysis	OMIM:609153
Coffin-Siris Syndrome 7	Thin upper lip vermilion, Ventricular septal defect, Bicuspid aortic valve, Sagittal craniosynost...	OMIM:618027
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Abnormal penis morphology, Encephalocele, Hypospadias, Abnormal cortical gyration, Epispadias, La...	ORPHA:2211
Okamoto Syndrome	Redundant neck skin, Tented upper lip vermilion, Urinary incontinence, Primum atrial septal defec...	ORPHA:2729
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Thin upper lip vermilion, Ventricular septal defect, Intestinal malrotation, Micrognathia, Crypto...	ORPHA:404440
Progeroid Syndrome, Petty Type	Brittle hair, Short stature, Abnormal hair morphology, Abnormality of the nail, Long eyelashes in...	ORPHA:2963
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe...	OMIM:263200
Renal Agenesis	Renal insufficiency, Proteinuria, Ventricular septal defect, Unilateral renal agenesis, Renal age...	ORPHA:411709
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Scapular winging, Dilation of Virchow-Robin spaces, Tricuspid regurgitation, Hypophosphaturia, Mi...	ORPHA:73223
Oculocerebrocutaneous Syndrome	Congenital hip dislocation, Cryptorchidism, Orbital encephalocele, Cleft palate, Gray matter hete...	OMIM:164180
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Retinal detachment, Tented upper lip vermilion, Exaggerated cupid's bow, Micrognathia, Periventri...	OMIM:619833
Woolly Hair Nevus	Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o...	ORPHA:79414
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Neonatal respiratory distress, Tracheomalacia, Protruding tongue, Gingival overgrowth, Wide mouth...	OMIM:618797
Atrial Septal Defect 1	Tetralogy of Fallot with pulmonary atresia, Bicuspid aortic valve, Ventricular septal defect, Sec...	OMIM:108800
Acquired Hypertrichosis Lanuginosa	Abnormal eyebrow morphology, Hypopigmentation of hair, Fine hair, Weight loss, Macroglossia, Gene...	ORPHA:2221
Xk Aprosencephaly Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:3469
Mandibulofacial Dysostosis, Guion-Almeida Type	Respiratory distress, Ventricular septal defect, Micrognathia, Esophageal atresia, Deep philtrum,...	OMIM:610536
Cartilage-Hair Hypoplasia	Lumbar hyperlordosis, Aganglionic megacolon, Absent pubertal growth spurt, Sparse facial hair, Sp...	OMIM:250250
Weiss-Kruszka Syndrome	Prominent metopic ridge, Ventricular septal defect, Bicuspid aortic valve, Exaggerated cupid's bo...	OMIM:618619
Acrofacial Dysostosis, Palagonia Type	Micrognathia, Short neck, High, narrow palate, Supernumerary tooth, Oligodontia, Unilateral cleft...	ORPHA:1787
Erythrocytosis, Familial, 2	Plethora, Cerebral hemorrhage, Increased hemoglobin, Increased red blood cell mass, Varicose vein...	OMIM:263400
Distal Renal Tubular Acidosis	Hemolytic anemia, Hyperphosphaturia, Failure to thrive, Hypocitraturia, Respiratory insufficiency...	ORPHA:18
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2	Hydrocele testis, Notched primary central incisor, Muscular ventricular septal defect	OMIM:620062
Mosaic Trisomy 20	Vertebral fusion, Ventricular septal defect, Abnormality of the kidney, Micrognathia, Long neck, ...	ORPHA:1724
Fragile X Syndrome	Macroorchidism, postpubertal, Mandibular prognathia, Periventricular heterotopia, Mitral valve pr...	OMIM:300624
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Delayed eruption of teeth, Noncompaction cardiomyopathy, Tricuspid regurgitation, Congestive hear...	ORPHA:508542
Microphthalmia, Syndromic 3	Optic nerve aplasia, Vertebral fusion, Ventricular septal defect, Hypospadias, Anterior pituitary...	OMIM:206900
Lissencephaly 6 With Microcephaly	Cerebellar atrophy, Thin upper lip vermilion, Periventricular heterotopia, Simplified gyral patte...	OMIM:616212
Hypoadrenocorticism, Familial	Hyponatremia, Cyanosis, Apnea, Adrenal hypoplasia, Hyperkalemia, Adrenal insufficiency	OMIM:240200
Choroidal Atrophy-Alopecia Syndrome	Abnormal fingernail morphology, Supernumerary nipple, Bifid nail, Fine hair, Sparse or absent eye...	ORPHA:1433
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Ventricular septal defect, Proteinuria, Cerebral hemorrhage, Hypoplastic philtrum, Precocious pub...	OMIM:616682
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Cerebellar atrophy, Brittle hair, Ataxia, Ragged-red muscle fibers, Rhabdomyolysis, Cerebral atro...	OMIM:124000
Pili Torti-Onychodysplasia Syndrome	Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Nail dystrophy, Trichodysplasia, Congen...	ORPHA:2890
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Abnormal toenail m...	ORPHA:248
Argininosuccinic Aciduria	Hepatomegaly, Failure to thrive, Hyperglutaminemia, Hyperammonemia, Episodic ammonia intoxication...	OMIM:207900
Man1B1-Cdg	Thin upper lip vermilion, Periventricular heterotopia, Short neck, Truncal obesity, Thick vermili...	ORPHA:397941
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Short neck, Low anterior hairline, Ataxia, Short stature, Hyperlordosis, Scoliosis, Sparse latera...	OMIM:619950
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Splenomegaly, Renal hypoplasia, Spinal dysraphism, Webbed neck, Nephroblastoma, Venous malformation	OMIM:612918
Mitochondrial Complex I Deficiency, Nuclear Type 9	Neonatal death, Lethargy, Breathing dysregulation, Hypoventilation	OMIM:618232
Neurocardiofaciodigital Syndrome	Dilated fourth ventricle, Atrial septal defect, Optic disc pallor, Failure to thrive, Small for g...	OMIM:619869
Chromosome 1Q41-Q42 Deletion Syndrome	Thin upper lip vermilion, Tented upper lip vermilion, Ventricular septal defect, Supernumerary ni...	OMIM:612530
Hypomelanosis Of Ito	Gray matter heterotopia, Thick lower lip vermilion, Iris coloboma, Irregularly spaced teeth	OMIM:300337
6Q Terminal Deletion Syndrome	Prominent metopic ridge, Failure to thrive, Hypospadias, Short neck, Phimosis, Periventricular he...	ORPHA:75857
Short Qt Syndrome 7	Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation	OMIM:620231
Spinocerebellar Ataxia, Autosomal Recessive 23	Hyponatremia, Arrhythmia, Neutropenia	OMIM:616949
16P13.11 Microdeletion Syndrome	Thin upper lip vermilion, Ventricular septal defect, Camptodactyly of finger, Exaggerated cupid's...	ORPHA:261236
Schinzel-Giedion Midface Retraction Syndrome	Ureteral stenosis, Hypospadias, Hydroureter, Wormian bones, Short neck, Splenopancreatic fusion, ...	OMIM:269150
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Abscess, Anal fissure, Perianal abscess, Lymphadenitis, Splenomegaly, Recurrent...	OMIM:618935
Weill-Marchesani Syndrome 1	Ventricular septal defect, Hypoplasia of the maxilla, Patent ductus arteriosus, Tooth malposition...	OMIM:277600
Short Stature And Facioauriculothoracic Malformations	Ventricular septal defect, Short neck	OMIM:609654
Purine Nucleoside Phosphorylase Deficiency	Recurrent respiratory infections, Lymphopenia, Autoimmune hemolytic anemia, Hypouricemia, Autoimm...	ORPHA:760
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Mandibular prognathia, Abnormal zygomatic bone morphology, Large fontanelles, Unilateral cleft li...	ORPHA:2511
Den Hoed-De Boer-Voisin Syndrome	Delayed eruption of teeth, Lactose intolerance, Recurrent urinary tract infections, Ventricular s...	OMIM:619229
Foodborne Botulism	Cerebral palsy, Paralysis, Respiratory insufficiency due to muscle weakness, Diaphragmatic paraly...	ORPHA:228371
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Cerebellar atrophy, Cyanosis, Apnea, Protruding tongue, Limb hypertonia	OMIM:619580
Plague	Abnormal bleeding, Chapped lip, Tachycardia, Hepatomegaly, Respiratory distress, Hematemesis, Lym...	ORPHA:707
Lambert-Eaton Myasthenic Syndrome	Small cell lung carcinoma, Progressive proximal muscle weakness, Impotence, Abnormal autonomic ne...	ORPHA:43393
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Cerebellar vermis hypoplasia, Micrognathia, Cleft palate, Short philtrum, Retinal neovascularization	OMIM:619074
Stickler Syndrome	Joint dislocation, Skeletal muscle atrophy, Micrognathia, Hypoplasia of the maxilla, Osteoarthrit...	ORPHA:828
Wrinkly Skin Syndrome	Decreased muscle mass, Congenital hip dislocation, Cerebellar vermis hypoplasia, Excessive skin w...	ORPHA:2834
Oromandibular Dystonia	Respiratory distress, Torticollis, Abnormality of the temporomandibular joint, Abnormal mandible ...	ORPHA:93958
Loeys-Dietz Syndrome 1	Bicuspid aortic valve, Micrognathia, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve...	OMIM:609192
Glioblastoma	Glioblastoma multiforme, Muscle weakness, Paralysis	ORPHA:360
Developmental And Epileptic Encephalopathy 95	Cerebellar atrophy, Hepatomegaly, Multiple joint contractures, Cardiomegaly, Hypoplasia of the po...	OMIM:618143
Spontaneous Periodic Hypothermia	Arrhythmia, Abnormal pattern of respiration	ORPHA:29822
Thoracoabdominal Syndrome	Patent ductus arteriosus, Anencephaly, Transposition of the great arteries, Ectopia cordis, Cysti...	OMIM:313850
Alport Syndrome 3A, Autosomal Dominant	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, L...	OMIM:104200
Primary Non-Essential Cutis Verticis Gyrata	Atrial septal defect, Ventricular septal defect	ORPHA:357225
Joubert Syndrome 30	Cerebellar atrophy, Retinal dystrophy, Apnea, Tachypnea, Gray matter heterotopia, Molar tooth sig...	OMIM:617622
Restrictive Dermopathy 2	Microretrognathia, Respiratory distress, Cyanosis, Rectal prolapse, Hypoplastic facial bones	OMIM:619793
Weill-Marchesani Syndrome	Ventricular septal defect, Mitral regurgitation, Aortic valve stenosis, Pulmonic stenosis	ORPHA:3449
Spondyloepiphyseal Dysplasia Congenita	Respiratory distress, Retinal detachment, Limited elbow movement, Short neck, Pierre-Robin sequen...	OMIM:183900
Poretti-Boltshauser Syndrome	Dilated fourth ventricle, Retinal atrophy, Retinal thinning, Retinal dystrophy, Cerebellar vermis...	OMIM:615960
Hereditary Mucoepithelial Dysplasia	Recurrent respiratory infections, Alopecia, Fine hair, Pulmonary fibrosis, Sparse hair	ORPHA:1839
Hypotrichosis With Juvenile Macular Degeneration	Sparse scalp hair, Brittle hair, Short stature, Fine hair, Pili torti	ORPHA:1573
Toxin-Mediated Infectious Botulism	Cerebral palsy, Paralysis, Respiratory insufficiency due to muscle weakness, Diaphragmatic paraly...	ORPHA:230800
Polysyndactyly With Cardiac Malformation	Atrial septal defect, Stillbirth, Ventricular septal defect, Renal cyst	OMIM:263630
Tsh-Secreting Pituitary Adenoma	Tremor, Male hypogonadism, Periodic hypokalemic paresis, Hypogonadotropic hypogonadism, Internal ...	ORPHA:91347
Leopard Syndrome 2	Curly hair, Hypertrophic cardiomyopathy, Short stature, Short neck	OMIM:611554
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive	Respiratory distress, Failure to thrive, Lymphocytic interstitial pneumonia, Decreased response t...	OMIM:245590
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Thyroid dysgenesis, Recurrent respiratory infections, Failure to thrive, Ventricular septal defec...	ORPHA:3047
Cerebellofaciodental Syndrome	Ventricular septal defect, Short neck, Hypoplasia of the pons, Cryptorchidism, Dental malocclusio...	OMIM:616202
Autosomal Recessive Cutis Laxa Type 2A	Abnormal bleeding, Dilated fourth ventricle, Persistent open anterior fontanelle, Congenital hip ...	ORPHA:357058
Multiple Endocrine Neoplasia, Type Iib	Colonic diverticula, Aganglionic megacolon, Failure to thrive in infancy, High, narrow palate, Th...	OMIM:162300
Hec Syndrome	Abnormal retinal vascular morphology, Vaginal hydrocele, Respiratory insufficiency, Cardiomyopath...	ORPHA:2119
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Recurrent respiratory infections, Lower limb spasticity, Multiple joint contractures, Clonus, Hai...	ORPHA:447997
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Hypoventilation, Apnea, Urinary incontinence, Sinus bradycardia, Hypopnea, Restrictive ventilator...	OMIM:619482
Nance-Horan Syndrome	Mandibular prognathia, Retinal detachment, Supernumerary tooth, Abnormality of the dentition	ORPHA:627
Revesz Syndrome	Aplastic anemia, Bone marrow hypocellularity	OMIM:268130
Roberts-Sc Phocomelia Syndrome	Short neck, Micrognathia, Knee flexion contracture, Coloboma, High palate, Atrial septal defect, ...	OMIM:268300
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Brittle hair, Kyphoscoliosis, Myocardial infarction, Scoliosis, Biconcave vertebral bodies, Failu...	OMIM:236200
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Curly hair, Short stature, Highly arched eyebrow, Low posterior hairline, Scoliosis, Camptodactyl...	OMIM:617360
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Respiratory distress, Hepatomegaly, Neutrophilia, Failure to thrive in infancy, Abscess, Elevated...	OMIM:612852
Osteogenesis Imperfecta, Type I	Mitral valve prolapse, Wormian bones, Bruising susceptibility, Dentinogenesis imperfecta, Aortic ...	OMIM:166200
Laryngomalacia	Respiratory distress, Congenital laryngeal stridor	OMIM:150280
Isolated Cleft Lip	Macrodontia, Bilateral cleft lip, Small for gestational age, Situs inversus totalis, Velopharynge...	ORPHA:199302
Thyroid Lymphoma	Respiratory distress, Broad neck, Hyperthyroidism, Dyspnea, Upper airway obstruction, Lymphadenop...	ORPHA:97285
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Elevated circulating C-reactive protein concentration, Cervical lymphadenopathy, Vasculitis, Recu...	OMIM:617718
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Short stature, Short neck, Postnatal growth retardation, Optic atrophy, Fine hair, Thick eyebrow	OMIM:614800
Central Neurocytoma	Lethargy, Depression	ORPHA:73256
Tricho-Retino-Dento-Digital Syndrome	Abnormality of retinal pigmentation, Supernumerary tooth, Oligodontia, Abnormality of the dentition	ORPHA:1264
Enlarged Parietal Foramina	Occipital encephalocele, Craniosynostosis, Cleft lip, Myelomeningocele, Cleft palate, Abnormal ce...	ORPHA:60015
Holt-Oram Syndrome	Secundum atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic l...	OMIM:142900
Ebstein Anomaly	Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ebstein anomaly of the tricuspid va...	OMIM:224700
Van Esch-O'Driscoll Syndrome	Cerebellar atrophy, Ventricular septal defect, Hypogonadotropic hypogonadism, Esophageal atresia,...	OMIM:301030
Benign Familial Neonatal Epilepsy	Circumoral cyanosis, Apnea	ORPHA:1949
Trichothiodystrophy 3, Photosensitive	Brittle hair, Short stature, Bilateral cryptorchidism, Hypertonia, Intrauterine growth retardatio...	OMIM:616395
Ciliary Dyskinesia, Primary, 30	Recurrent respiratory infections, Ventricular septal defect, Dextrocardia, Situs inversus totalis...	OMIM:616037
Susac Syndrome	Lethargy, Apathy	ORPHA:838
Dyskeratosis Congenita, X-Linked	Acute myeloid leukemia, Pancytopenia, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocyt...	OMIM:305000
Intellectual Developmental Disorder, Autosomal Dominant 54	Cerebellar atrophy, Lower limb spasticity, Poor head control, Ataxia, Short stature, Small for ge...	OMIM:617799
Intellectual Developmental Disorder, Autosomal Dominant 53	Ventricular septal defect, Intestinal malrotation, Cryptorchidism, Genu valgum, Wide mouth, Micro...	OMIM:617798
Multiple Endocrine Neoplasia Type 4	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir...	ORPHA:276152
Warsaw Breakage Syndrome	Optic disc coloboma, Tetralogy of Fallot, Ventricular septal defect	OMIM:613398
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Congenital muscular torticollis, Thin upper lip vermilion, Congenital hip dislocation, Bicuspid a...	ORPHA:457279
Frank-Ter Haar Syndrome	Thin upper lip vermilion, Redundant neck skin, Ventricular septal defect, Wormian bones, Microgna...	OMIM:249420
Congenital Laryngeal Web	Respiratory distress, Stridor, Abnormal cardiac septum morphology	ORPHA:2374
Porphyria, Acute Intermittent	Tachycardia, Paralysis, Hypertension, Respiratory paralysis, Paresthesia, Muscle weakness	OMIM:176000
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Carious teeth, Telangiectasia, Livedo, Conical incisor, Facial telangiectasia, Enamel hypoplasia	OMIM:614564
Cornelia De Lange Syndrome	Hypoplasia of penis, Congenital diaphragmatic hernia, Short neck, Micrognathia, Downturned corner...	ORPHA:199
Nicolaides-Baraitser Syndrome	Recurrent respiratory infections, Dry hair, Absent eyebrow, Short stature, Sparse scalp hair, Spa...	OMIM:601358
Oculodentodigital Dysplasia, Autosomal Recessive	Delayed eruption of teeth, Wide cranial sutures, Dental crowding, Micrognathia, Hypoplasia of the...	OMIM:257850
Abnormal Hair, Joint Laxity, And Developmental Delay	Tricuspid regurgitation, Sinus bradycardia, Mitral regurgitation, Increased carrying angle, Micro...	OMIM:261990
Uncombable Hair Syndrome 3	Uncombable hair, Curly hair, Brittle hair, Pili canaliculi	OMIM:617252
Paramyotonia Congenita Of Von Eulenburg	Handgrip myotonia, Myotonia of the upper limb, Myotonia, Facial muscle hypertrophy, Myotonia of t...	ORPHA:684
Episodic Ataxia Type 1	Cerebellar atrophy, Calf muscle hypertrophy, Myotonia, Respiratory distress	ORPHA:37612
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a...	ORPHA:300751
Common Variable Immunodeficiency	Recurrent respiratory infections, Hemolytic anemia, Failure to thrive in infancy, Pneumonia, Auto...	ORPHA:1572
Thymic Carcinoma	Neoplasm of the thymus, Mediastinal lymphadenopathy, Dyspnea, Weight loss, Cough, Abnormal vena c...	ORPHA:99868
Cerebrocostomandibular Syndrome	Death in infancy, Multicystic kidney dysplasia, Neonatal respiratory distress, Ventricular septal...	ORPHA:1393
Zellweger-Like Syndrome Without Peroxisomal Anomalies	Alopecia, Brittle hair, Short stature, Intrauterine growth retardation, Failure to thrive	ORPHA:50812
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Respiratory distress, Thin upper lip vermilion, Handgrip myotonia, Tented upper lip vermilion, Fa...	ORPHA:438216
Subependymal Nodular Heterotopia	Occipital encephalocele, Myelomeningocele, Meningocele, Abnormality of neuronal migration, Gray m...	ORPHA:101030
Congenital Lobar Emphysema	Respiratory distress, Emphysema	ORPHA:1928
Grant Syndrome	Joint dislocation, Micrognathia, Open bite, Large fontanelles, Wormian bones, Abnormal palate mor...	ORPHA:2097
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Curly hair, Diastasis recti, Large for gestational age, Cryptorchidism, Gait disturbance	ORPHA:457485
Fibrochondrogenesis 1	Short neck, Wide anterior fontanel, Narrow mouth, Cleft palate, Widely patent coronal suture, Sti...	OMIM:228520
Vater/Vacterl Association	Renal dysplasia, Occipital encephalocele, Failure to thrive, Hypospadias, Ventricular septal defe...	OMIM:192350
Congenital Diaphragmatic Hernia	Respiratory distress, Intestinal malrotation, Congenital diaphragmatic hernia, Aplasia/Hypoplasia...	ORPHA:2140
Cardiofacioneurodevelopmental Syndrome	Cerebellar vermis hypoplasia, Ventricular septal defect, Micrognathia, Asplenia, Cryptorchidism, ...	OMIM:619123
46,Xx Sex Reversal 5	Ventricular septal defect, Secundum atrial septal defect, Aplasia of the left hemidiaphragm, Hypo...	OMIM:618901
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Death in early adulthood, Alopecia, Sparse eyelashes, Sparse eyebrow, Congestive heart failure, D...	OMIM:605676
Leopard Syndrome 3	Curly hair, Short stature, Short neck, Low posterior hairline, Growth delay	OMIM:613707
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Cerebral vasculitis, Abnormal autonomic nervous system physiology, Paralysis	ORPHA:83601
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia	Unilateral renal atrophy, Torticollis, Cryptorchidism, Pyelonephritis, Oligozoospermia, Varicose ...	OMIM:314300
Botulism	Xerostomia, Arrhythmia, Urinary retention, Respiratory insufficiency	ORPHA:1267
2Q31.1 Microdeletion Syndrome	Prominent metopic ridge, Ventricular septal defect, Camptodactyly of finger, Short neck, Microgna...	ORPHA:251014
Holoprosencephaly 13, X-Linked	Septo-optic dysplasia, Ventricular septal defect, Optic nerve hypoplasia, Patent ductus arteriosu...	OMIM:301043
Hypotrichosis 7	Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor...	OMIM:604379
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Tremor, Tachycardia, Periodic paralysis, Weight loss	OMIM:613239
Primary Intestinal Lymphangiectasia	Pericardial effusion, Abnormal lymphatic vessel morphology, Intestinal lymphangiectasia, Reduced ...	ORPHA:90362
Chitayat Syndrome	Respiratory distress, Recurrent respiratory infections, Abnormal pulmonary interstitial morpholog...	OMIM:617180
Cutis Laxa, Autosomal Recessive, Type Iiib	Cryptorchidism, Flexion contracture, Elbow flexion contracture, Fine hair, Athetosis, Sparse hair...	OMIM:614438
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Urethral stricture, Hypospadias, Urinary incontinence, Ventricular septal defect, Renal agenesis,...	OMIM:619522
Trichodental Dysplasia	Sparse hair, Brittle hair, Slow-growing hair, Fine hair	OMIM:601453
Naegeli-Franceschetti-Jadassohn Syndrome	Flexion contracture of finger, Abnormal dental morphology, Interphalangeal joint contracture of f...	ORPHA:69087
Bilateral Perisylvian Polymicrogyria	Lower limb spasticity, Paraparesis, Flexion contracture, Oromotor apraxia, Spastic tetraplegia, D...	ORPHA:98889
Intellectual Disability, Buenos-Aires Type	Abnormal fingernail morphology, Short stature, Hyperconvex thumb nails, Spastic gait, Fine hair, ...	ORPHA:3079
Congenital Disorder Of Glycosylation, Type Iia	Mandibular prognathia, Failure to thrive, Ventricular septal defect, Macrodontia, Short neck, Dia...	OMIM:212066
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Respiratory distress, Intestinal perforation, Xerostomia, Cough, Neutropenia, Generalized abnorma...	ORPHA:95455
Brachycephaly, Trichomegaly, And Developmental Delay	Supernumerary tooth, Submucous cleft hard palate, Thick lower lip vermilion, Thin vermilion borde...	OMIM:617412
Pulmonary Alveolar Proteinosis, Acquired	Recurrent respiratory infections, Brain abscess, Lung abscess, Cyanosis, Pneumonia, Dyspnea, Intr...	OMIM:610910
Netherton Syndrome	Recurrent respiratory infections, Sparse scalp hair, Brittle hair, Brittle scalp hair, Sparse eye...	OMIM:256500
Rothmund-Thomson Syndrome Type 1	Leukemia, Aplastic anemia, Anemia, Neutropenia	ORPHA:221008
Brugada Syndrome 4	Shortened QT interval, Syncope, Atrial fibrillation	OMIM:611876
Inhalational Anthrax	Respiratory distress, Abnormal sweat gland morphology, Dyspnea, Hypotension, Internal hemorrhage	ORPHA:247257
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Respiratory distress, Short neck, Flat acetabular roof, Stillbirth, Pulmonary hypoplasia	OMIM:151210
Myopathy, X-Linked, With Excessive Autophagy	Skeletal muscle atrophy, Myotonia, Elevated circulating creatine kinase concentration, Flexion co...	OMIM:310440
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Ventricular septal defect, Anterior encephalocele	OMIM:601357
Ichthyosis, Congenital, Autosomal Recessive 2	Alopecia, Thin nail, Paralysis, Abnormal hair morphology, Growth delay, Small nail	OMIM:242100
Fusariosis	Myositis, Sinusitis, Abnormality of the spleen, Air crescent sign, Neutropenia, Brain abscess, Ab...	ORPHA:228119
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Cerebellar atrophy, Micrognathia, Hypoplasia of the pons, Interstitial emphysema, Bronchiectasis,...	OMIM:619708
Osteoporosis-Pseudoglioma Syndrome	Retinal detachment, Isosexual precocious puberty, Abnormal vitreous humor morphology, Exudative r...	ORPHA:2788
Temtamy Preaxial Brachydactyly Syndrome	Tarsal synostosis, Diastema, Deep philtrum, Talon cusp, Optic atrophy, Cleft palate, Radioulnar s...	OMIM:605282
Odontotrichoungual-Digital-Palmar Syndrome	Nail dystrophy, Nail dysplasia, Abnormality of hair texture	OMIM:601957
Eosinophilic Fasciitis	Myositis, Abnormal eosinophil morphology, Eosinophilia, Weight loss, Arthritis, Muscular edema, A...	ORPHA:3165
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Decreased testicular size, Occipital encephalocele, Multicystic kidney dysplasia, Agenesis of cer...	OMIM:615287
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome	Micrognathia, Nephrogenic diabetes insipidus, Carious teeth, Supernumerary tooth, Hypoplasia of t...	ORPHA:3145
Band Heterotopia	Gray matter heterotopia, Subcortical band heterotopia, Polymicrogyria	OMIM:600348
Woodhouse-Sakati Syndrome	Decreased serum testosterone concentration, Streak ovary, Decreased response to growth hormone st...	ORPHA:3464
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Ventricular septal defect, Dextrotransposition of the great arteries	OMIM:619995
Short Qt Syndrome 3	Shortened QT interval, Tachycardia, Palpitations	OMIM:609622
Hypotrichosis 6	Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Pili torti	OMIM:607903
Osteogenesis Imperfecta, Type Xii	Delayed eruption of teeth, Micrognathia, High palate, Narrow mouth, Wormian bones, Malar flatteni...	OMIM:613849
Leber Optic Atrophy	Optic neuropathy, Central retinal vessel vascular tortuosity, Optic atrophy, Myopathy, Leber opti...	OMIM:535000
Cleidocranial Dysplasia 1	Respiratory distress, Persistent open anterior fontanelle, Neonatal respiratory distress, Delayed...	OMIM:119600
Pontocerebellar Hypoplasia, Type 8	Tented upper lip vermilion, Ventricular septal defect, Hypoplasia of the brainstem, Cerebellar hy...	OMIM:614961
Woods Syndrome	Ventricular septal defect, Supernumerary nipple, Optic atrophy, Thin vermilion border, Limited el...	OMIM:615236
Mandibuloacral Dysplasia	Hypertriglyceridemia, Dental crowding, Increased subcutaneous truncal adipose tissue, Increased c...	ORPHA:2457
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Death in infancy, Thymus hyperplasia, Neonatal respiratory distress, Micrognathia, Type 1 muscle ...	OMIM:619036
Rothmund-Thomson Syndrome Type 2	Leukemia, Aplastic anemia, Anemia, Neutropenia	ORPHA:221016
Normokalemic Periodic Paralysis	Periodic paralysis	OMIM:170600
Nance-Horan Syndrome	Supernumerary maxillary incisor, Screwdriver-shaped incisors, Mulberry molar, Diastema	OMIM:302350
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Multiple pulmonary cysts, Microretrognathia, Hypertriglyceridemia, Ventricular ...	OMIM:619418
Ichthyosis, Congenital, Autosomal Recessive 11	Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Sparse body hair, Sp...	OMIM:602400
Autosomal Recessive Axonal Neuropathy With Neuromyotonia	Hand muscle atrophy, Distal lower limb amyotrophy, Handgrip myotonia, Myotonia, Elevated circulat...	ORPHA:324442
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Aortic regurgitation, Duplicated collecting system, Ventricular septal defect, Short neck, Large ...	OMIM:607721
Pheochromocytoma/Paraganglioma Syndrome 1	Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Tachycardia, ...	OMIM:168000
Trichorhinophalangeal Syndrome Type 1	Camptodactyly of finger, Micrognathia, Abnormality of the dentition, Supernumerary tooth, High pa...	ORPHA:77258
Lissencephaly 9 With Complex Brainstem Malformation	Cerebellar vermis hypoplasia, Ventricular septal defect, Hypoplasia of the pons, Hypoplasia of th...	OMIM:618325
Choanal Atresia	Respiratory distress, Recurrent respiratory infections, Cyanosis, Craniosynostosis, Upper airway ...	ORPHA:137914
Hand-Foot-Genital Syndrome	Recurrent urinary tract infections, Ventricular septal defect, Hypospadias, Miscarriage, Abnormal...	ORPHA:2438
Weaver Syndrome	Deep-set nails, Diastasis recti, Thin nail, Kyphosis, Cryptorchidism, Slurred speech, Fine hair, ...	OMIM:277590
Peripheral Motor Neuropathy-Dysautonomia Syndrome	Skeletal muscle atrophy, Achalasia, Acrocyanosis	ORPHA:2400
Dubowitz Syndrome	Acute lymphoblastic leukemia, Aplastic anemia	OMIM:223370
Combined Oxidative Phosphorylation Deficiency 15	Wolff-Parkinson-White syndrome, Optic disc pallor, Ventricular septal defect, Shortened PR interv...	OMIM:614947
Omodysplasia 1	Ventricular septal defect, Short neck, Micrognathia, Cryptorchidism, Pulmonary artery stenosis, L...	OMIM:258315
Trichorhinophalangeal Syndrome, Type Iii	Thin upper lip vermilion, Dental crowding, Supernumerary tooth, Long philtrum, Smooth philtrum	OMIM:190351
Jansen-De Vries Syndrome	Thin upper lip vermilion, Ventricular septal defect, Bicuspid aortic valve, Central diaphragmatic...	OMIM:617450
Wolf-Hirschhorn Syndrome	Decreased muscle mass, Micrognathia, Orofacial cleft, Downturned corners of mouth, Short philtrum...	OMIM:194190
Osteogenesis Imperfecta, Type Ii	Small for gestational age, Congestive heart failure, Large fontanelles, Respiratory insufficiency...	OMIM:166210
Smith-Kingsmore Syndrome	Curly hair, Rhizomelia, Diastasis recti, Large for gestational age, Cryptorchidism	OMIM:616638
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypoparathyroidism, Renal dysplasia, Renal insufficiency, Diabetes mellitus, Unilateral renal age...	ORPHA:2237
Woodhouse-Sakati Syndrome	Decreased serum testosterone concentration, Decreased serum insulin-like growth factor 1, Diabete...	OMIM:241080
Laryngotracheoesophageal Cleft	Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Coug...	ORPHA:2004
Cryptococcosis	Respiratory distress, Lymphoid leukemia, Pneumonia, Nodular pattern on pulmonary HRCT, Abnormal r...	ORPHA:1546
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Decreased thyroid-stimulating hormone level, Anterior pituitary hypoplasia, Reduced circulating p...	OMIM:613038
Lenz-Majewski Hyperostotic Dwarfism	Abnormal penis morphology, Mandibular prognathia, Hypospadias, Facial palsy, Abnormal dental enam...	ORPHA:2658
Craniosynostosis 2	Cleft soft palate, Craniosynostosis, Unicoronal synostosis, Supernumerary tooth, Metopic synostos...	OMIM:604757
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Brittle hair, Ataxia, Cerebral atrophy, Growth delay, Cardiomyopathy	OMIM:616084
Palmoplantar Keratoderma And Woolly Hair	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Woolly hair, Sparse body hair	OMIM:616099
Dysosteosclerosis	Delayed eruption of teeth, Optic atrophy, Ventricular septal defect	ORPHA:1782
Genitopatellar Syndrome	Congenital hip dislocation, Micrognathia, Knee flexion contracture, Anteriorly placed anus, Atria...	OMIM:606170
Rajab Interstitial Lung Disease With Brain Calcifications 1	Pancytopenia, Anemia	OMIM:613658
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac...	OMIM:607450
Cooper-Jabs Syndrome	Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia, Respiratory ...	ORPHA:1488
Parietal Foramina 1	Encephalocele, Wormian bones, Cleft palate, Cleft upper lip	OMIM:168500
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Renal salt wasting, Increased urin...	OMIM:613090
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy	Skeletal muscle atrophy, Limb muscle weakness, Paralysis	OMIM:612300
16P11.2P12.2 Microdeletion Syndrome	Microretrognathia, Tricuspid regurgitation, Camptodactyly of finger, Orofacial cleft, Arrhythmia,...	ORPHA:261211
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii	Cerebellar atrophy, Hip contracture, Thick upper lip vermilion, Thin upper lip vermilion, Hypospa...	OMIM:210730
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Joint dislocation, Arthropathy, Genu recurvatum, Short neck, Flexion contracture, Knee dislocatio...	OMIM:143095
Ulbright-Hodes Syndrome	Abnormal penis morphology, Respiratory distress, Maternal diabetes, Short neck, Micrognathia, Cry...	ORPHA:3404
Bartter Syndrome, Type 1, Antenatal	Hyperparathyroidism, Increased serum prostaglandin E2, Renal salt wasting, Nephrocalcinosis, Incr...	OMIM:601678
Rapp-Hodgkin Syndrome	Sparse eyelashes, Short stature, Supernumerary nipple, Slow-growing hair, Sparse eyebrow, Fine ha...	OMIM:129400
Nijmegen Breakage Syndrome	Conjunctival telangiectasia, Premature ovarian insufficiency, Glioma, Short stature, Rhabdomyosar...	OMIM:251260
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Dilated cardiomyopathy, Ventricular tachycardia, Leukonychia, Syncope, Nail dystrophy, Woolly hai...	OMIM:615821
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Bicuspid aortic valve, Short neck, Micrognathia, Flexion contracture, High palate, Atrial septal ...	OMIM:271640
Blepharophimosis, Ptosis, And Epicanthus Inversus	Premature ovarian insufficiency, Highly arched eyebrow, Female infertility, Sparse pubic hair, Ir...	OMIM:110100
Björnstad Syndrome	Alopecia, Brittle hair, Hypogonadism	ORPHA:123
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect	Ventricular septal defect	OMIM:235750
Thanatophoric Dysplasia, Type I	Neonatal respiratory distress, Short neck, Gray matter heterotopia, Pulmonary hypoplasia, Neonata...	OMIM:187600
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Cyanosis, Methemoglobinemia, Polycythemia, Exertional dyspnea	OMIM:250800
Uveal Melanoma	Retinal detachment, Vitreous hemorrhage, Abnormal fundus morphology	ORPHA:39044
Impacted Teeth, Multiple	Supernumerary tooth, Multiple impacted teeth	OMIM:308280
Achondroplasia	Respiratory distress, Death in infancy, Upper airway obstruction, Brain stem compression, Pulmona...	OMIM:100800
Early Infantile Epileptic Encephalopathy	Cerebellar atrophy, Failure to thrive, Ventricular septal defect, Precocious puberty, Cleft palat...	ORPHA:1934
Sarcoidosis, Susceptibility To, 1	Pericardial effusion, Splenomegaly, Pancytopenia	OMIM:181000
Laryngeal Abductor Paralysis	Stridor, Cyanosis	OMIM:150260
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome	Supernumerary tooth, Abnormal dental enamel morphology, Enamel hypoplasia	ORPHA:3196
Split Cord Malformation	Back pain, Abnormal thoracic spine morphology, Low back pain, Tethered cord, Kyphoscoliosis, Hype...	ORPHA:573278
Chromosome 13Q14 Deletion Syndrome	Thin upper lip vermilion, Ventricular septal defect, Supernumerary nipple, Micrognathia, Iris col...	OMIM:613884
Deafness-Enamel Hypoplasia-Nail Defects Syndrome	Diabetes mellitus, Abnormal dental enamel morphology, Camptodactyly of finger, Abnormality of the...	ORPHA:3220
Osteogenesis Imperfecta, Type Iii	Protrusio acetabuli, Micrognathia, Wide anterior fontanel, Wormian bones, Pulmonary arterial hype...	OMIM:259420
Obesity-Hypoventilation Syndrome	Hypoventilation, Cyanosis, Obesity	OMIM:257500
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Mandibular prognathia, Thin upper lip vermilion, Cerebellar vermis hypoplasia, Ventricular septal...	OMIM:620330
Chromosome 16P13.3 Duplication Syndrome	Smooth philtrum, Thin upper lip vermilion, Tented upper lip vermilion, Facial hypotonia, Ventricu...	OMIM:613458
Lysinuric Protein Intolerance	Skeletal muscle atrophy, Short stature, Intraalveolar phospholipid accumulation, Fine hair, Trunc...	OMIM:222700
Intellectual Developmental Disorder, Autosomal Dominant 38	Hair-pulling, Ataxia, Cerebral atrophy	OMIM:616393
Ectodermal Dysplasia 13, Hair/Tooth Type	Brittle hair, Sparse eyelashes, Low anterior hairline, Thin eyebrow	OMIM:617392
Wrinkly Skin Syndrome	Congenital hip dislocation, Neonatal wrinkled skin of hands and feet, High palate, Microdontia, M...	OMIM:278250
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Parathyroid agenesis, Hypercalciuria, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Congenital...	ORPHA:2239
Filippi Syndrome	Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Optic atrophy, Thin vermilion bo...	ORPHA:3255
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Alopecia, Cryptorchidism, Fine hair, Hypogonadism, Intrauterine growth retardation	ORPHA:228390
Multicentric Osteolysis, Nodulosis, And Arthropathy	Delayed eruption of teeth, Hip contracture, Wide cranial sutures, Interphalangeal joint contractu...	OMIM:259600
Congenital Disorder Of Deglycosylation 2	Cerebellar vermis hypoplasia, Genu recurvatum, Hamartoma of tongue, Micrognathia, Gray matter het...	OMIM:619775
Hypophosphatemic Rickets And Hyperparathyroidism	Hyperparathyroidism, Hypercalcemia, Parathyroid hyperplasia, Renal phosphate wasting, Chiari type...	OMIM:612089
Primary Dystonia, Dyt4 Type	Eunuchoid habitus, Respiratory distress, Torticollis, Movement abnormality of the tongue, Open mouth	ORPHA:98805
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Arthropathy, Patent ductus arteriosus, Erythema, Large fontanelles, Arthritis, High palate, Wormi...	OMIM:259100
Familial Acute Necrotizing Encephalopathy	Abnormal brainstem MRI signal intensity, Choroid hemorrhage, Abnormal brainstem morphology, Abnor...	ORPHA:88619
Hereditary Angioedema Type 1	Respiratory distress, Tongue edema, Intestinal edema, Abnormal soft palate morphology, Dyspnea, U...	ORPHA:100050
Aprosencephaly Syndrome	Aprosencephaly, Anencephaly, Hand oligodactyly	OMIM:207770
Diamond-Blackfan Anemia 5	Macrocytic anemia, Ventricular septal defect, Hypospadias, Erythroid hypoplasia, Reticulocytopeni...	OMIM:612528
Pachyonychia Congenita	Respiratory distress, Natal tooth, Angular cheilitis, Advanced eruption of teeth, Failure to thri...	ORPHA:2309
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Thin upper lip vermilion, Asthma, Nasal flaring, Obesity, Wide mouth, Downturned corners of mouth...	ORPHA:466943
Autosomal Recessive Kenny-Caffey Syndrome	Delayed cranial suture closure, Carious teeth, Hypocalcemia, Hypocalcemic tetany, Congenital hypo...	ORPHA:93324
Palmoplantar Keratoderma And Congenital Alopecia 1	Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair	OMIM:104100
Orofaciodigital Syndrome Type 3	Abnormality of hair texture, Thoracic kyphosis, Myoclonus, Oculomotor apraxia, Spasticity	ORPHA:2752
Pheochromocytoma/Paraganglioma Syndrome 3	Extraadrenal pheochromocytoma, Tachycardia, Vocal cord paralysis, Chemodectoma, Adrenal pheochrom...	OMIM:605373
Bruck Syndrome 2	Wormian bones, Flexion contracture, Elbow flexion contracture, Knee flexion contracture, Hydroxyp...	OMIM:609220
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Short stature, Fine hair, Pulmonary hypoplasia, Nail dysplasia, Sparse hair, Aplasia/Hypoplasia o...	OMIM:614091
Holoprosencephaly 14	Cerebellar atrophy, Median cleft lip, Ventricular septal defect, Cyclopia, Periventricular hetero...	OMIM:619895
Hereditary Sensory And Autonomic Neuropathy Type 2	Abnormality of the knee, Skeletal muscle atrophy, Wormian bones, Abnormality of the ankle	ORPHA:970
Diets-Jongmans Syndrome	Thin upper lip vermilion, Hypospadias, Ventricular septal defect, Congenital diaphragmatic hernia...	OMIM:618846
3Q29 Microduplication Syndrome	Ventricular septal defect, Craniosynostosis, Short neck, Abnormality of the dentition, Deep philt...	ORPHA:251038
Hypotrichosis 12	Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho...	OMIM:615885
Ectodermal Dysplasia 7, Hair/Nail Type	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa...	OMIM:614929
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency	Skeletal muscle atrophy, Myotonia, Increased muscle glycogen content, Hyperuricemia, Anemia	ORPHA:371
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Large posterior fontanelle, Anal atresia, Hypospadias, Abnormal dental enamel morphology, Tarsal ...	ORPHA:85199
Aromatase Deficiency	Eunuchoid habitus, Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism...	ORPHA:91
Cntnap2-Related Developmental And Epileptic Encephalopathy	Hepatomegaly, Intermittent hyperventilation, Abnormal neuron morphology, Precocious puberty, Abno...	ORPHA:163681
Townes-Brocks Syndrome 1	Chorioretinal coloboma, Atrial septal defect, Vesicoureteral reflux, Hypothyroidism, Multicystic ...	OMIM:107480
Wolff-Parkinson-White Syndrome	Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com...	OMIM:194200
Mandibuloacral Dysplasia With Type A Lipodystrophy	Calcinosis, Reduced subcutaneous adipose tissue, Hepatomegaly, Dental crowding, Micrognathia, Hyp...	OMIM:248370
Kufor-Rakeb Syndrome	Urinary incontinence, Bradykinesia, Apathy, Leg muscle stiffness, Difficulty in tongue movements,...	ORPHA:306674
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Recurrent respiratory infections, Disproportionate short stature, Fine hair, Truncal obesity, Sco...	ORPHA:2637
Aicardi Syndrome	Retinal detachment, Prominence of the premaxilla, Cerebellar vermis hypoplasia, Block vertebrae, ...	OMIM:304050
Milroy Disease	Hydrocele testis, Varicose veins, Abnormal venous morphology, Ankle swelling	ORPHA:79452
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Skeletal muscle atrophy, Optic disc pallor, Short neck, Flexion contracture, High palate, Wormian...	OMIM:300232
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation	Ventricular septal defect	OMIM:209770
Cdags Syndrome	Anal atresia, Hypospadias, Sagittal craniosynostosis, Rectourethral fistula, Large fontanelles, C...	OMIM:603116
X-Linked Intellectual Disability, Golabi-Ito-Hall Type	Dry hair, Brittle hair, Short stature, Spastic diplegia, Growth delay, Macroglossia, Nail dystrop...	ORPHA:93947
Marshall Syndrome	Retinal detachment, Thick upper lip vermilion, Micrognathia, Absent frontal sinuses, Knee osteoar...	OMIM:154780
Dysostosis, Stanescu Type	Persistent open anterior fontanelle, Abnormal dental enamel morphology, Short neck, Hypoplasia of...	ORPHA:1798
Alg11-Cdg	Failure to thrive, Gray matter heterotopia, Long philtrum, Retrognathia, Limb hypertonia	ORPHA:280071
Osteogenesis Imperfecta, Type Xxii	Abnormal circulating calcium concentration, Abnormal blood phosphate concentration, Decreased cir...	OMIM:619795
Genitopatellar Syndrome	Hip contracture, Sparse scalp hair, Short stature, Cryptorchidism, Knee flexion contracture, Fine...	ORPHA:85201
Primrose Syndrome	Skeletal muscle atrophy, Bilateral cryptorchidism, Synophrys, Flexion contracture, Knee flexion c...	OMIM:259050
Pfeiffer Syndrome Type 2	Respiratory distress, Intestinal malrotation, Aqueductal stenosis, Cleft palate, Chiari malformat...	ORPHA:93259
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc c...	OMIM:120200
Ulnar-Mammary Syndrome	Ectopic posterior pituitary, Anal stenosis, Ventricular septal defect, Anterior pituitary hypopla...	OMIM:181450
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A	Spastic ataxia, Cerebral palsy, Generalized dystonia, Spastic tetraparesis, Paraparesis, Dystonia...	OMIM:620358
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Accessory spleen, Thin upper lip vermilion, Dilated fourth ventricle, Cerebellar vermis hypoplasi...	OMIM:619306
Non-Progressive Cerebellar Ataxia With Intellectual Disability	Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmetria, Positive Romberg sign, Nonprogressive ...	ORPHA:314647
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Hyponatremia, Death in infancy, Cerebellar atrophy, Cyanosis, Respiratory distress, Apnea, Neonat...	OMIM:618426
Craniofrontonasal Syndrome	Ridged nail, Split nail, Curly hair, Short stature, Congenital diaphragmatic hernia, Short neck, ...	OMIM:304110
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations	Cerebellar vermis hypoplasia, Periventricular heterotopia, Simplified gyral pattern, Hypoplasia o...	OMIM:618273
Lyme Disease	Arthritis, Arrhythmia, Joint swelling, Atrioventricular block	ORPHA:91546
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Short stature, Highly arched eyebrow, Short neck, Postnatal growth retardation, Cryptorchidism, L...	OMIM:613563
Trichothiodystrophy 7, Nonphotosensitive	Tiger tail banding, Brittle hair	OMIM:618546
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Elevated circulating parathyroid hormone level, Hypocalcemia, Pseudohypoparath...	OMIM:203330
Capillary Malformation-Arteriovenous Malformation	Cerebral arteriovenous malformation	ORPHA:137667
Female Restricted Epilepsy With Intellectual Disability	Abnormal social behavior	ORPHA:101039
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts	Wormian bones, Stillbirth	OMIM:259410
Craniosynostosis 6	Cerebellar atrophy, Dandy-Walker malformation, Delayed cranial suture closure, Craniosynostosis, ...	OMIM:616602
Witteveen-Kolk Syndrome	Branchial fistula, Toe syndactyly, Overlapping toe, Arachnodactyly, Proximal placement of thumb, ...	OMIM:613406
Ectodermal Dysplasia-Blindness Syndrome	Recurrent respiratory infections, Abnormal fingernail morphology, Short stature, Fine hair, Spars...	ORPHA:1806
Orotic Aciduria	Failure to thrive, Orotic acid crystalluria, Ventricular septal defect, Anisocytosis, Folate-unre...	OMIM:258900
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Respiratory distress, Everted upper lip vermilion, Absent nipple, Abnormal oral mucosa morphology...	OMIM:305100
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Hip contracture, Vertebral fusion, Ventricular septal defect, Elbow contracture, Multiple pterygi...	OMIM:178110
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Optic atrophy, Simplified gyral pattern, Gray matter heterotopia, Lissencephaly, Macular hypoplas...	OMIM:615219
Antley-Bixler Syndrome	Camptodactyly of finger, Craniosynostosis, Abnormal renal morphology, Cleft palate, Hypoplasia of...	ORPHA:83
Osteogenesis Imperfecta, Type V	Wormian bones, Anterior radial head dislocation, Dentinogenesis imperfecta, Limited pronation/sup...	OMIM:610967
Ayme-Gripp Syndrome	Mandibular prognathia, Smooth philtrum, Pericarditis, Thin upper lip vermilion, Abnormality of th...	OMIM:601088
Myotonia, Potassium-Aggravated	Skeletal muscle atrophy, Handgrip myotonia, Myotonia, Elevated circulating creatine kinase concen...	OMIM:608390
Pulmonary Hypertension, Primary, 4	Atrial flutter, Pulmonary arterial hypertension with lack of acute response to NO challenge, Firs...	OMIM:615344
Peeling Skin Syndrome 1	Onycholysis, Brittle hair, Short stature, Nail dystrophy	OMIM:270300
Lambotte Syndrome	Retrognathia, Ventricular septal defect, Narrow mouth	OMIM:245552
Tooth Agenesis, Selective, 3	Microdontia, Oligodontia of primary teeth, Agenesis of permanent molar, Oligodontia	OMIM:604625
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Supernumerary nipple, Cryptorchidism, Aplastic/hypoplastic toenail, Fine hair, Gait disturbance, ...	ORPHA:1812
Neurodevelopmental Disorder With Language Delay And Seizures	Cryptorchidism, Ventricular septal defect	OMIM:619908
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Aplasia/Hypoplasia of the cerebellum, Abnormality of retinal pigmentation, Optic atrophy, Abnorma...	ORPHA:2518
Inhalational Botulism	Muscle weakness, Paralysis	ORPHA:254504
Myotonia Congenita, Autosomal Dominant	Handgrip myotonia, Myotonia, Skeletal muscle hypertrophy, Percussion myotonia, Myotonia with warm...	OMIM:160800
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Wormian bones, Dentinogenesis imperfecta	ORPHA:166277
Gjc2-Related Late-Onset Primary Lymphedema	Ankle swelling, Venous insufficiency, Abnormal lymphatic vessel morphology, Varicose veins, Hypop...	ORPHA:568051
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Elbow dislocation, Anterior vertebral fusion, Shoulder dislocation, Radioulnar synostosis, Long p...	OMIM:171480
Craniometadiaphyseal Dysplasia	Mandibular prognathia, Natal tooth, Dental crowding, Microdontia, Carious teeth, Wide anterior fo...	OMIM:269300
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy	Myotonia, Elevated circulating creatine kinase concentration, Proximal amyotrophy, Upper limb mus...	ORPHA:209335
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Myotonia, Thin vermilion border, Lymphopenia, Abnormality of the dentition	ORPHA:391307
Monosomy 22Q13.3	Sacral dimple, Impaired pain sensation, Hypoplastic toenails, Hair-pulling, Obesity, Long eyelash...	ORPHA:48652
Secondary Intestinal Lymphangiectasia	Lymphopenia, Intestinal obstruction, Intestinal lymphedema, Right ventricular failure, Celiac dis...	ORPHA:90363
Cerebral Palsy, Spastic Quadriplegic, 3	Gray matter heterotopia	OMIM:617008
Delpire-Mcneill Syndrome	Ventricular septal defect	OMIM:619083
Orofaciodigital Syndrome Xvi	Apnea, Hamartoma of tongue, Gray matter heterotopia, Molar tooth sign on MRI, Retrognathia, Retin...	OMIM:617563
Developmental And Epileptic Encephalopathy 68	Respiratory distress, Failure to thrive, Flexion contracture	OMIM:618201
Myotonia Congenita, Autosomal Recessive	Myotonia, Skeletal muscle hypertrophy, Percussion myotonia, Myotonia with warm-up phenomenon, Mus...	OMIM:255700
Osteogenesis Imperfecta, Type Ix	Wormian bones, Dentinogenesis imperfecta	OMIM:259440
Dihydropyrimidine Dehydrogenase Deficiency	Short nail, Short neck, Inability to walk, Cerebral atrophy, Hypertonia, Long eyelashes, Abnormal...	ORPHA:1675
Myotonia Permanens	Myotonia, Dyspnea, Asthma, Generalized muscle hypertrophy, Skeletal muscle hypertrophy	ORPHA:99735
Hyperkalemic Periodic Paralysis	Episodic flaccid weakness, Periodic hyperkalemic paralysis	OMIM:170500
Carney Triad	Gastrointestinal hemorrhage, Tachycardia, Gastrointestinal stroma tumor, Mediastinal lymphadenopa...	ORPHA:139411
15Q14 Microdeletion Syndrome	Ventricular septal defect, Abnormality of the dentition, Cleft palate, Short philtrum, Long philt...	ORPHA:261190
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Hip dislocation, Bladder diverticulum, Joint subluxation, Wormian bones, Bruising susceptibility,...	OMIM:617821
Isolated Anencephaly	Thymus hyperplasia, Adrenal hypoplasia, Congenital diaphragmatic hernia, Maternal diabetes, Cleft...	ORPHA:563609
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Smooth philtrum, Thin upper lip vermilion, Ventricular septal defect, Dental crowding, Congenital...	OMIM:301044
Cole-Carpenter Syndrome 2	Microretrognathia, Wide cranial sutures, High palate, Lambdoidal craniosynostosis, Wormian bones,...	OMIM:616294
Familial Adenomatous Polyposis	Duodenal polyposis, Congenital hypertrophy of retinal pigment epithelium, Multiple gastric polyps...	ORPHA:733
Mend Syndrome	Sacral dimple, Short stature, Abnormal auditory evoked potentials, Kyphosis, Cryptorchidism, Abno...	ORPHA:401973
Spondylometaphyseal Dysplasia, Sedaghatian Type	Myocarditis, Atrioventricular block, Respiratory insufficiency, Cardiorespiratory arrest, Cerebel...	ORPHA:93317
Cleidocranial Dysplasia 2	Delayed eruption of primary teeth, Hypoplasia of the maxilla, Wide anterior fontanel, Supernumera...	OMIM:620099
Genitourinary And/Or Brain Malformation Syndrome	Streak ovary, Hypospadias, Jejunal atresia, Ileal atresia, Micrognathia, Cryptorchidism, Gray mat...	OMIM:618820
Frontonasal Dysplasia 2	Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Bilateral cryptorchidism, Fine hair, Sparse h...	OMIM:613451
Kasabach-Merritt Syndrome	Respiratory distress, Reticulocytosis, Petechiae, Thrombocytopenia, Abnormal lymphatic vessel mor...	ORPHA:2330
Orofaciodigital Syndrome Iii	Supernumerary tooth, Tongue nodules, Microdontia, Bifid tongue, Bifid uvula	OMIM:258850
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Exaggerated median tongue furrow, Prominent metopic ridge, Tented upper lip vermilion, Ventricula...	OMIM:608670
Ovarian Dysgenesis 3	Primary amenorrhea, Female infertility, Delayed puberty	OMIM:614324
Singleton-Merten Syndrome 2	Joint subluxation, Aortic valve calcification, Arrhythmia, Aortic valve stenosis	OMIM:616298
Myotonia With Skeletal Abnormalities And Mental Retardation	Skeletal muscle hypertrophy, Myotonia, Firm muscles, Genu valgum	OMIM:255710
Brody Disease	Skeletal muscle hypertrophy, Percussion myotonia, Myotonia, Flexion contracture	OMIM:601003
Liposarcoma	Varicose veins, Abnormality of the kidney, Weight loss	ORPHA:69078
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Abnormal dental morphology, Abnormality of the wrist, Deep philtrum, Long philtrum, Arrhythmia	ORPHA:2878
Penile Agenesis	Urethral atresia, male, Hydroureter, Ventricular septal defect, Maternal diabetes, Rectal fistula...	ORPHA:49
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome	Fine hair	ORPHA:3236
Acetazolamide-Responsive Myotonia	Skeletal muscle hypertrophy, Myotonia, Hypothyroidism	ORPHA:99736
Gardner Syndrome	Neoplasm of the pancreas, Duodenal polyposis, Abnormality of the dentition, Adrenocortical carcin...	ORPHA:79665
Geroderma Osteodysplasticum	Mandibular prognathia, Progeroid facial appearance, Hypoplasia of the maxilla, Neonatal wrinkled ...	OMIM:231070
Aase-Smith Syndrome I	Death in infancy, Ventricular septal defect, Flexion contracture, Cleft palate, Open mouth, Dandy...	OMIM:147800
Amelo-Onycho-Hypohidrotic Syndrome	Hypoplastic toenails, Onycholysis, Abnormal fingernail morphology, Fine hair	ORPHA:1028
Pseudohypoaldosteronism, Type Iia	Periodic hyperkalemic paralysis, Hypertension	OMIM:145260
Odontoonychodermal Dysplasia	Ridged nail, Sparse scalp hair, Dry hair, Thin nail, Short nail, Sparse eyebrow, Fine hair, Nail ...	OMIM:257980
Cleft Larynx, Posterior	Aspiration, Cyanosis	OMIM:215800
Saethre-Chotzen Syndrome	Proximal radio-ulnar synostosis, Craniosynostosis, Hypoplasia of the maxilla, Cryptorchidism, Ope...	ORPHA:794
Neuroocular Syndrome	Hypoplasia of the fovea, Scapular winging, Remnants of the hyaloid vascular system, Genu recurvat...	OMIM:619539
Friedreich Ataxia 2	Abnormal EKG, Abnormal medulla oblongata morphology, Congestive heart failure, Concentric hypertr...	OMIM:601992
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Cerebral arteriovenous malformation	OMIM:175050
Trichodermodysplasia-Dental Alterations Syndrome	Sparse scalp hair, Brittle hair, Hyperlordosis, Fine hair, Sparse or absent eyelashes, Scoliosis,...	ORPHA:3353
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Macrodontia of permanent maxillary central incisor, Open mouth, Thick vermilion border, Depression	OMIM:620114
Neurofibromatosis, Familial Spinal	Symmetric spinal nerve root neurofibromas, Paraparesis, Neurofibroma, Plexiform neurofibroma, Low...	OMIM:162210
Codas Syndrome	Delayed eruption of teeth, Congenital hip dislocation, Ventricular septal defect, Cryptorchidism,...	OMIM:600373
Rodrigues Blindness	Sparse hair, Short stature, Fine hair	OMIM:268320
Grant Syndrome	Wormian bones, Micrognathia	OMIM:138930
Holoprosencephaly 2	Median cleft lip and palate, Remnants of the hyaloid vascular system, Aplasia of the premaxilla, ...	OMIM:157170
Norrie Disease	Retinal detachment, Diabetes mellitus, Abnormal chorioretinal morphology, Remnants of the hyaloid...	ORPHA:649
Chronic Graft Versus Host Disease	Pancytopenia	ORPHA:99921
Focal Dermal Hypoplasia	Ridged nail, Brittle hair, Short stature, Diastasis recti, Congenital diaphragmatic hernia, Super...	OMIM:305600
Muscular Dystrophy, Barnes Type	Myopathy, Myotonia, Muscular dystrophy	OMIM:158800
Stüve-Wiedemann Syndrome	Respiratory distress, Apnea, Camptodactyly of finger, Abnormality of the dentition, Trismus, Asth...	ORPHA:3206
Sabinas Brittle Hair Syndrome	Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:211390
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant...	ORPHA:91495
Craniosynostosis And Dental Anomalies	Delayed eruption of teeth, Papilledema, Mandibular prognathia, Prominent metopic ridge, Dental cr...	OMIM:614188
Lacrimoauriculodentodigital Syndrome 1	Absence of Stensen duct, Renal agenesis, Delayed eruption of primary teeth, Aplasia of the paroti...	OMIM:149730
Copper Deficiency, Familial Benign	Curly hair, Failure to thrive, Early balding	OMIM:121270
Myopathy, Granulovacuolar Lobular, With Electrical Myotonia	Skeletal muscle atrophy, Myotonia	OMIM:254950
Saethre-Chotzen Syndrome	Hypoplasia of the maxilla, Cleft of chin, Narrow palate, Abnormal heart morphology, Cleft palate,...	OMIM:101400
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Hypercalcemia, Achilles tendon calcification, Hyperphosphatemia, Elevated circulating parathyroid...	OMIM:617994
Nasolacrimal Duct Cyst	Intercostal retractions, Episodic respiratory distress, Stridor, Paroxysmal dyspnea, Abnormal bre...	ORPHA:141083
Paget Disease Of Bone 2, Early-Onset	Paraparesis, Vertebral compression fracture, Sandwich appearance of vertebral bodies, Tetraparesis	OMIM:602080
Familial Adenomatous Polyposis 1	Duodenal polyposis, Carious teeth, Adrenocortical carcinoma, Supernumerary tooth, Adenomatous col...	OMIM:175100
Ivic Syndrome	Leukocytosis, Radioulnar synostosis, Rectovaginal fistula, Anal atresia, Arrhythmia, Thrombocytop...	ORPHA:2307
Spondylometaphyseal Dysplasia, Sedaghatian Type	Large posterior fontanelle, Short neck, Myocarditis, Flat acetabular roof, Atrial septal defect, ...	OMIM:250220
Hypotrichosis 13	Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology	OMIM:615896
Phace Syndrome	Cerebral arteriovenous malformation	ORPHA:42775
Pyruvate Dehydrogenase E1-Beta Deficiency	Periventricular heterotopia, Hypoplasia of the brainstem, Cerebellar hypoplasia, Decreased body w...	ORPHA:255138
Olmsted Syndrome 2	Sparse hair, Woolly hair, Alopecia universalis, Flexion contracture of digit	OMIM:619208
Mandibuloacral Dysplasia With Type A Lipodystrophy	Prematurely aged appearance, Progeroid facial appearance, Abnormality of the dentition, Hyperlipi...	ORPHA:90153
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Thick lower lip vermilion, Obesity, Gray matter heterotopia, Narrow mouth, Thick upper lip vermilion	OMIM:608624
Ankyloglossia With Or Without Tooth Anomalies	Supernumerary tooth, Ankyloglossia	OMIM:106280
Curry-Jones Syndrome	Bicoronal synostosis, Anal stenosis, Intestinal pseudo-obstruction, Intestinal malrotation, Lip p...	OMIM:601707
Meige Disease	Varicose veins, Pleural effusion, Lymph node hypoplasia, Absence of lymph node germinal center	ORPHA:90186
Autosomal Dominant Kenny-Caffey Syndrome	Papilledema, Delayed cranial suture closure, Persistence of primary teeth, Carious teeth, Anemia,...	ORPHA:93325
Cystinosis, Adult Nonnephropathic	Elevated circulating creatinine concentration, Abnormal retinal morphology	OMIM:219750
Adult Syndrome	Sparse scalp hair, Alopecia, Absent nipple, Breast hypoplasia, Nail pits, Fine hair, Fingernail d...	ORPHA:978
Uncombable Hair Syndrome 1	Uncombable hair, Dry hair, Pili canaliculi	OMIM:191480
Pycnodysostosis	Persistent open anterior fontanelle, Delayed eruption of primary teeth, Micrognathia, Absent fron...	OMIM:265800
Pachyonychia Congenita 2	Sparse scalp hair, Dry hair, Subungual hyperkeratosis, Sparse eyebrow, Nail dystrophy, Nail dyspl...	OMIM:167210
Erythrokeratodermia Variabilis Et Progressiva 7	Woolly hair, Dystrophic toenail	OMIM:619209
Osteogenesis Imperfecta, Type Xvi	Microretrognathia, Prolonged bleeding time, Small for gestational age, Tooth agenesis, Wormian bo...	OMIM:616229
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Highly arched eyeb...	ORPHA:572333
Full Nf2-Related Schwannomatosis	Remnants of the hyaloid vascular system, Facial palsy, Retinal hamartoma, Myelopathy, Epiretinal ...	ORPHA:637
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Spasticity, Low anterior hairline, Intrinsic hand muscle atrophy, Dry hair	OMIM:618569
Ulna Hypoplasia-Intellectual Disability Syndrome	Elbow dislocation, Large fontanelles, Delayed cranial suture closure	ORPHA:2249
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Hepatomegaly, Aganglionic megacolon, Splenomegaly, Ileus, Premature graying of hair, Hypogonadism...	ORPHA:163746
Distal Deletion 19P	Umbilical hernia, Pulmonary valve atresia, Ventricular septal defect, Tricuspid valve prolapse	ORPHA:96129
Bruck Syndrome	Wormian bones, Arthrogryposis multiplex congenita, Pterygium, Respiratory insufficiency	ORPHA:2771
Scalp-Ear-Nipple Syndrome	Short stature, Sparse axillary hair, Sparse pubic hair, Congestive heart failure, Fine hair, Supr...	OMIM:181270
Osteogenesis Imperfecta, Type Xx	Mandibular prognathia, Tented upper lip vermilion, Narrow palate, Agenesis of permanent teeth, Hi...	OMIM:618644
Clapo Syndrome	Varicose veins, Capillary malformation of the lip, Lymphangioma, Failure to thrive, Venous malfor...	ORPHA:168984
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Remnants of the hyaloid vascular system, Hyphema, Retinal nonattachment, Retinal fold, Iris coloboma	OMIM:221900
Trichotillomania	Hair-pulling, Alopecia	OMIM:613229
Episodic Ataxia, Type 2	Myotonia, Cerebellar vermis atrophy	OMIM:108500
Apc-Related Attenuated Familial Adenomatous Polyposis	Neoplasm of the pancreas, Duodenal polyposis, Adrenocortical carcinoma, Supernumerary tooth, Aden...	ORPHA:247806
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Curly hair, Vertebral arch anomaly	ORPHA:85184
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Recurrent respiratory infections, White hair, Aganglionic megacolon, Fine hair	ORPHA:935
Renal Tubular Acidosis Iii	Periodic paralysis	OMIM:267200
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	Apnea, Delayed cranial suture closure, Micrognathia	ORPHA:1129
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Wormian bones, Wide anterior fontanel	OMIM:601356
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Remnants of the hyaloid vascular system, Retinal dystrophy, Posterior lenticonus, Chorioretinal c...	ORPHA:231736
Limb Body Wall Complex	Encephalocele, Ventricular septal defect, Diastasis recti, Spina bifida, Congenital diaphragmatic...	ORPHA:2369
Pineoblastoma	Lethargy, Papilledema, Paralysis	ORPHA:251909
Cole-Carpenter Syndrome	Delayed eruption of teeth, Wormian bones, Abnormal dental enamel morphology, Micrognathia	ORPHA:2050
Thoracic Outlet Syndrome	Varicose veins	ORPHA:97330
Proximal Myotonic Myopathy	Myotonia	ORPHA:606
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Pancreatic fibrosis, Ventricular septal defect, Acetabular spurs, Pulmonary hypoplasia, Failure t...	OMIM:615503
Cole-Carpenter Syndrome 1	Micrognathia, Wormian bones, Microdontia, Coronal craniosynostosis, Dentinogenesis imperfecta, Or...	OMIM:112240
Myasthenic Syndrome, Congenital, 21, Presynaptic	Cyanosis, Apnea, Meconium ileus, Respiratory insufficiency, Knee flexion contracture, Weakness of...	OMIM:617239
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Thomsen And Becker Disease	Myotonia	ORPHA:614
Hypoplastic Left Heart Syndrome 2	Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia	OMIM:614435
Phacoanaphylactic Uveitis	Hyphema, Abnormal vitreous humor morphology, Vitritis, Retinal arteritis, Macular edema, Vitreore...	ORPHA:209959
Osteopetrosis, Autosomal Recessive 3	Periodic hypokalemic paresis, Optic nerve compression, Short stature	OMIM:259730
Spondylometaphyseal Dysplasia, Pagnamenta Type	Wormian bones	OMIM:619638
Chand Syndrome	Curly hair, Nail dysplasia	OMIM:214350
Osteogenesis Imperfecta, Type Xviii	Wormian bones, Umbilical hernia, Abnormality of the dentition, Micrognathia	OMIM:617952
Reynolds Syndrome	Calcinosis, Gastrointestinal hemorrhage, Hepatomegaly, Raynaud phenomenon, Splenomegaly, Jaundice...	OMIM:613471
Cranioectodermal Dysplasia 1	Recurrent respiratory infections, Rhizomelia, Short nail, Thin nail, Slow-growing hair, Fine hair...	OMIM:218330
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Remnants of the hyaloid vascular system, High, narrow palate, Asthma, Cleft p...	ORPHA:2714
Trichorhinophalangeal Syndrome, Type Ii	Cerebral arteriovenous malformation	OMIM:150230
Diamond-Blackfan Anemia 12	Ventricular septal defect	OMIM:615550
Familial Cerebral Cavernous Malformation	Retinal cavernous angioma, Cerebral hemorrhage, Focal T2 hyperintense brainstem lesion, Focal T2 ...	ORPHA:221061
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant	Sparse hair, Brittle hair, Absent nipple, Absent hair	OMIM:614940
Osteogenesis Imperfecta, Type Xi	Protrusio acetabuli, Wormian bones, Dentinogenesis imperfecta	OMIM:610968
Glomuvenous Malformation	Abnormal renal morphology, Oral mucosa nodule, Gastrointestinal arteriovenous malformation, Arter...	ORPHA:83454
Retinoblastoma	Vitritis, Cleft palate, Retinal calcification, Vitreous hemorrhage, Retinoblastoma, Leukemia, Pin...	OMIM:180200
Childhood Absence Epilepsy	Limb myoclonus, Abnormal social behavior	ORPHA:64280
Varicose Veins	Varicose veins	OMIM:192200
Ectodermal Dysplasia And Immunodeficiency 1	Conical incisor, Ectodermal dysplasia, Aplasia of the eccrine sweat glands	OMIM:300291
Optic Nerve Hypoplasia, Bilateral	Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo...	OMIM:165550
Ablepharon Macrostomia Syndrome	Absent eyebrow, Camptodactyly of finger, Abnormal hair pattern, Absent eyelashes, Fine hair, Grow...	ORPHA:920
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia	Conical tooth, Micrognathia, Supernumerary tooth, Widely spaced teeth, Hypodontia, Microdontia	ORPHA:90024
Juvenile Polyposis Syndrome	Cerebral arteriovenous malformation	ORPHA:2929
Juvenile Xanthogranuloma	Abnormal oral mucosa morphology, Hyphema, Myeloproliferative disorder	ORPHA:158000
Oculopalatocerebral Syndrome	Remnants of the hyaloid vascular system, Cleft palate	OMIM:257910
Spondyloarthropathy, Susceptibility To, 1	Aortic regurgitation, Oligoarthritis, Sacroiliac arthritis, Inflammation of the large intestine, ...	OMIM:106300
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth	Varicose veins, Capillary malformation of the lip, Venous malformation	OMIM:613089
Onychotrichodysplasia And Neutropenia	Curly hair, Curly eyelashes, Concave nail, Sparse pubic hair, Short eyelashes, Trichorrhexis nodo...	OMIM:258360
Glycine Encephalopathy	Lethargy, Respiratory acidosis, Hyperglycinemia, Breathing dysregulation	ORPHA:407
Mismatch Repair Cancer Syndrome 1	Rhabdomyosarcoma, Adenomatous colonic polyposis, Gray matter heterotopia, Adenocarcinoma of the s...	OMIM:276300
Osteogenesis Imperfecta, Type Xxi	Wormian bones	OMIM:619131
Craniotubular Dysplasia, Ikegawa Type	Ventricular septal defect, Optic neuropathy, Thick lower lip vermilion, Optic atrophy, Long philt...	OMIM:619727
Periventricular Nodular Heterotopia 9	Prominent metopic ridge, Everted upper lip vermilion, Hypoplastic philtrum, Gingival overgrowth, ...	OMIM:618918
Osteogenesis Imperfecta, Type Viii	Wormian bones, Wide anterior fontanel, Dentinogenesis imperfecta	OMIM:610915
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia	Conical tooth, Micrognathia, Widely spaced teeth, Peg-shaped maxillary lateral incisors, Microdontia	OMIM:610706
Aprosencephaly And Cerebellar Dysgenesis	Aprosencephaly, Talipes equinovarus	OMIM:601374
Isolated Arrhinia	Respiratory distress, Hypoplasia of the nasal bone	ORPHA:1134
Osteoporosis-Pseudoglioma Syndrome	Retinal calcification, Exudative retinopathy, Vitreoretinopathy, Ventricular septal defect	OMIM:259770
Osteogenesis Imperfecta, Type Iv	Wormian bones, Dentinogenesis imperfecta	OMIM:166220
Tooth Agenesis, Selective, 4	Peg-shaped maxillary lateral incisors, Tooth agenesis, Abnormality of primary teeth, Agenesis of ...	OMIM:150400

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Vegfa

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Vegfa.

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

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MGI Allele	Allele Type	Produced
Vegfa^{tm271408(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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