Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

insulin-like growth factor 2 receptor
IGF-II/CI-MPR,  Mpr300,  CI-MPR,  M6P/IGF2R,  mannose-6-phosphate receptor, cation independent,  CD222

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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 Igf2r mutations

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

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

The table below shows human diseases associated to Igf2r by orthology or direct annotation.

Disease Similarity of
Matching phenotypes Source
Hepatocellular Carcinoma
Subacute progressive viral hepatitis, Micronodular cirrhosis, Hepatocellular carcinoma OMIM:114550

The table below shows human diseases predicted to be associated to Igf2r by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies
Distal arthrogryposis, Decreased muscle mass, Respiratory insufficiency, Arthrogryposis multiplex... OMIM:208081
Brachydactyly, Type C
Short middle phalanx of finger, Talipes equinovarus, Short 1st metacarpal, Brachydactyly, Pseudoe... OMIM:113100
Syndactyly Type 2
2-3 toe syndactyly, 3-4 finger syndactyly, Symphalangism affecting the phalanges of the hand, San... ORPHA:93403
Congenital Absence Of Upper Arm And Forearm With Hand Present
Polydactyly, Abnormal heart morphology, Stillbirth, Abnormal thorax morphology, Syndactyly, Upper... ORPHA:294975
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Limited elbow flexion, Pelvic girdle muscle weakness, Abnormal respiratory system physiology, Res... ORPHA:266
Peripartum Cardiomyopathy
Dilated cardiomyopathy, Myocarditis, Left atrial enlargement, Right ventricular failure, Abnormal... ORPHA:563
Spinal Muscular Atrophy, Type I
Proximal amyotrophy, Proximal muscle weakness in lower limbs, Ventricular septal defect, Respirat... OMIM:253300
Metatropic Dysplasia
Abnormal metaphyseal vascular invasion, Flared humeral metaphysis, Respiratory insufficiency, Lon... OMIM:156530
Sternum, Premature Obliteration Of Sutures Of
Short sternum, Abnormal heart morphology, Micrognathia, Premature sternal synostosis OMIM:184800
Lethal Congenital Contracture Syndrome 3
Skeletal muscle atrophy, Respiratory insufficiency, Neonatal death, Arthrogryposis multiplex cong... OMIM:611369
Multiple Synostoses Syndrome 1
Short lower limbs, 2-3 toe syndactyly, Cutaneous finger syndactyly, Lower limb undergrowth, Cubit... OMIM:186500
Bardet-Biedl Syndrome 1
Foot polydactyly, Micropenis, Syndactyly, Nephrogenic diabetes insipidus, Diabetes mellitus, Hype... OMIM:209900
Idiopathic/Heritable Pulmonary Arterial Hypertension
Hepatomegaly, Syncope, Right ventricular dilatation, Palpitations, Elevated jugular venous pressu... ORPHA:422
Coronary Arterial Fistula
Bicuspid aortic valve, Syncope, Abnormal EKG, Abnormal left ventricular function, Aortic valve st... ORPHA:2041
Renal-Hepatic-Pancreatic Dysplasia 2
Hypertrophic cardiomyopathy, Hepatomegaly, Cystic renal dysplasia, Truncus arteriosus, Pulmonary ... OMIM:615415
Renal Hypodysplasia/Aplasia 1
Hypertension, Renal agenesis, Talipes equinovarus, Renal dysplasia, Vaginal atresia, Bicornuate u... OMIM:191830
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Pulmonary lymphangiectasia, Hepatomegaly, Ventricular septal defect, Hydronephrosis, Ascites, Pol... ORPHA:1655
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Hypoplastic labia majora, Fused labia minora, Femoral bowing, Rocker bottom foot, Narrow pelvis b... OMIM:207410
Familial Dilated Cardiomyopathy
Right ventricular dilatation, Atrial fibrillation, Mitral regurgitation, Ventricular arrhythmia, ... ORPHA:217607
Short ribs, Absent frontal sinuses, Progressive bowing of long bones, Abnormal metaphyseal trabec... OMIM:224300
Synpolydactyly 1
4-5 toe syndactyly, 3-4 finger syndactyly, 2nd-5th toe middle phalangeal hypoplasia, Finger synda... OMIM:186000
Death in infancy, Cardiomegaly OMIM:227150
Meckel Syndrome, Type 1
Ambiguous genitalia, female, Splenomegaly, Ambiguous genitalia, male, Accessory spleen, Adrenal h... OMIM:249000
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Ventricular septal defect, Overgrowth, Small for gestational age, Abnormal heart morphology, Poly... ORPHA:254534
Spondylometaphyseal Dysplasia, X-Linked
Hip contracture, Pectus carinatum, Short finger, Tapered finger, Respiratory insufficiency, Knee ... OMIM:313420
Mosaic Trisomy 16
Hypospadias, Horseshoe kidney, Ventricular septal defect, Maternal diabetes, Preeclampsia, Intrau... ORPHA:1708
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Micrognathia, Skeletal muscle atrophy, Talipes equinovarus, Hand clenching, Respiratory insuffici... OMIM:618291
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Pectus excavatum, Respiratory insufficiency, Talipes equinovarus, Facial palsy, Respiratory failu... OMIM:614399
Meacham Syndrome
Anomalous pulmonary venous return, Hydrometrocolpos, Aortic valve stenosis, Ventricular septal de... ORPHA:3097
Hydatidiform Mole
Preeclampsia, Enlarged uterus, Spontaneous abortion, Menometrorrhagia, Hyperthyroidism ORPHA:99927
Trichohepatoenteric Syndrome 1
Hypospadias, Abnormalities of placenta or umbilical cord, Large placenta, Jaundice, Ventricular s... OMIM:222470
Infantile Sialic Acid Storage Disease
Hepatomegaly, Ascites, Nephrotic syndrome, Failure to thrive, Premature birth, Vacuolated lymphoc... OMIM:269920
Hemochromatosis, Type 2B
Secondary amenorrhea, Hepatomegaly, Hepatic fibrosis, Anemia, Cardiomyopathy, Splenomegaly, Hypog... OMIM:613313
Asbestos Intoxication
Wheezing, Cor pulmonale, Lung adenocarcinoma, Pleural thickening, Exertional dyspnea, Restrictive... ORPHA:2302
Hemochromatosis, Type 2A
Dilated cardiomyopathy, Hepatomegaly, Infertility, Amenorrhea, Azoospermia, Hypogonadotropic hypo... OMIM:602390
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Narrow chest, Polydactyly, Lateral clavicle hook, Brachydactyly OMIM:617405
Congenital Tricuspid Valve Dysplasia
Hypoxemia, Hepatomegaly, Pericardial effusion, Tachypnea, Right ventricular hypertrophy, Prematur... ORPHA:555874
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Micrognathia, Ventricular septal defect, Truncus arteriosus, Respiratory insufficiency, Neonatal ... OMIM:228940
Atrial Septal Defect, Ostium Primum Type
Left atrial enlargement, Syncope, Third heart sound, Clubbing of toes, Clubbing of fingers, Abnor... ORPHA:99106
Congenital Radioulnar Synostosis
Limited pronation/supination of forearm, Polydactyly, Talipes equinovarus, Abnormal morphology of... ORPHA:3269
Lethal Congenital Contracture Syndrome 4
Distal arthrogryposis, Skeletal muscle atrophy, Respiratory insufficiency, Flexion contracture, M... OMIM:614915
Muscular Dystrophy, Congenital, 1B
Generalized muscle hypertrophy, Achilles tendon contracture, Facial palsy, Shoulder girdle muscle... OMIM:604801
Syndactyly, Type Iv
1-5 finger syndactyly, 2-3 toe syndactyly, Triphalangeal thumb, Polydactyly, Postaxial polydactyl... OMIM:186200
Hemochromatosis, Type 1
Testicular atrophy, Hepatomegaly, Telangiectasia, Amenorrhea, Azoospermia, Ascites, Hepatocellula... OMIM:235200
Camptosynpolydactyly, Complex
Cutaneous syndactyly, Syndactyly, Polydactyly, Camptodactyly OMIM:607539
Broad ischia, Talipes equinovarus, Abnormal left ventricular outflow tract morphology, Hypoplasia... ORPHA:79328
Atrial Septal Defect, Sinus Venosus Type
Left-to-right shunt, Right ventricular dilatation, Atrial fibrillation, Systolic heart murmur, Ca... ORPHA:99105
Congenital Arthrogryposis With Anterior Horn Cell Disease
Skeletal muscle atrophy, Talipes equinovarus, Rocker bottom foot, Hand clenching, Facial diplegia... OMIM:611890
Fibrodysplasia Ossificans Progressiva
Broad femoral neck, Hallux valgus, Ectopic ossification in muscle tissue, Respiratory insufficien... OMIM:135100
Congenital Muscular Dystrophy, Ullrich Type
Micrognathia, Abnormal muscle fiber morphology, Adducted thumb, Torticollis, Generalized amyotrop... ORPHA:75840
Endocardial Fibroelastosis
Congestive heart failure, Endocardial fibroelastosis, Cardiomyopathy, Cryptorchidism OMIM:226000
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Limb muscle weakness, Hypoplasia of the capital femoral epiphysis, Respiratory failure, Hand musc... OMIM:600561
Pontocerebellar Hypoplasia, Type 1C
Skeletal muscle atrophy, Respiratory insufficiency, Flexion contracture, Respiratory failure, Spi... OMIM:616081
Surfactant Metabolism Dysfunction, Pulmonary, 3
Desquamative interstitial pneumonitis, Neonatal respiratory distress, Death in infancy, Nonspecif... OMIM:610921
Nemaline Myopathy 8
Death in infancy, Myofibrillar myopathy, Facial palsy, Flexion contracture, Respiratory failure, ... OMIM:615348
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Intrauterine growth retardation, Failure to thrive, Ventricular hypertrophy, Bradyc... OMIM:619048
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Respiratory insufficiency, Apnea, Muscular dystrophy, Flexion contracture, Respiratory failure OMIM:613869
Renal Dysplasia-Limb Defects Syndrome
Fibular aplasia, Micrognathia, Intrauterine growth retardation, Thin ribs, Talipes equinovarus, P... OMIM:266910
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Hepatomegaly, Horseshoe kidney, Short clavicles, Atrioventricular canal defect, Short long bone, ... OMIM:617088
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Hypertrophic cardiomyopathy, Hypospadias, Hepatomegaly, Death in infancy, Intrauterine growth ret... ORPHA:1194
Endocardial Fibroelastosis
Endocardial fibroelastosis, Restrictive cardiomyopathy, Sandal gap, Congestive heart failure, Ant... ORPHA:2022
Tarp Syndrome
Micrognathia, Pectus excavatum, Intrauterine growth retardation, Talipes equinovarus, Postaxial p... OMIM:311900
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Portal hypertension, Hepatomegaly, Hypertension, Pancreatic cysts, Neonatal death, Hepatic cysts,... OMIM:263200
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Thoracic hypoplasia, Horizontal ribs, Ventricular septal defect, Lateral clavicle hook, Postaxial... OMIM:617895
Nephronophthisis 16
Hypertrophic cardiomyopathy, Hepatic fibrosis, Situs inversus totalis, Nephronophthisis, Pulmonic... OMIM:615382
Aa Amyloidosis
Hepatomegaly, Adrenal insufficiency, Nephrotic syndrome, Abnormality of the kidney, Abnormal hear... ORPHA:85445
Arthrogryposis Multiplex Congenita 6
Death in infancy, Adducted thumb, Neonatal death, Arthrogryposis multiplex congenita, Increased v... OMIM:619334
Premature Ovarian Failure 19
Secondary amenorrhea, Female infertility, Irregular menstruation, Premature ovarian insufficiency OMIM:619245
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Upper limb undergrowth, Epiphyseal stippling, Prominent calcaneus, Hepatosplenomegaly, Short 1st ... ORPHA:96334
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hypertrophic cardiomyopathy, Hepatomegaly, Failure to thrive, Macrovesicular hepatic steatosis, C... OMIM:618234
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Long-chain dicarboxylic aciduria, Elbow flexion contracture, Hepatic calc... OMIM:608836
Hyperekplexia 4
Distal arthrogryposis, Adducted thumb, Talipes equinovarus, Flexion contracture, Camptodactyly, R... OMIM:618011
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Tetraamelia-Multiple Malformations Syndrome
Aplasia/Hypoplasia of the lungs, Abnormal lung lobation, Missing ribs, Vaginal atresia, Aplasia/H... ORPHA:3301
Symptomatic Form Of Hemochromatosis Type 1
Cholangiocarcinoma, Splenomegaly, Diabetes mellitus, Portal hypertension, Infertility, Hypogonado... ORPHA:465508
Endometriosis, Susceptibility To, 1
Endometriosis, Dysmenorrhea, Decreased fertility OMIM:131200
Triphalangeal Thumb, Nonopposable
Triphalangeal thumb, Polydactyly OMIM:190600
Immunodeficiency, Common Variable, 6
Macroscopic hematuria, Hepatomegaly, Hydronephrosis, Mesangial Immune complex deposition, Glomeru... OMIM:613496
Meacham Syndrome
Bicuspid aortic valve, Death in infancy, Neonatal death, Accessory spleen, Septate vagina, Blind ... OMIM:608978
Mucopolysaccharidosis-Plus Syndrome
Neutropenia, Splenomegaly, Recurrent respiratory infections, Hypertrophic cardiomyopathy, Nephrot... OMIM:617303
Mitochondrial Complex I Deficiency, Nuclear Type 30
Respiratory failure, Neonatal death, Intrauterine growth retardation OMIM:301021
Beckwith-Wiedemann Syndrome
Congenital megaureter, Splenomegaly, Nephropathy, Hypercalciuria, Large placenta, Umbilical herni... ORPHA:116
Klippel-Trénaunay Syndrome
Hepatomegaly, Ascites, Abnormality of the menstrual cycle, Abnormal tricuspid valve morphology, E... ORPHA:90308
Meckel Syndrome 12
Renal hypoplasia, Renal agenesis, Intrauterine growth retardation, Rocker bottom foot, Vaginal at... OMIM:616258
Placental Insufficiency
Eclampsia, Preeclampsia, Intrauterine growth retardation, Maternal hypertension, Spontaneous abor... ORPHA:439167
Bronchopulmonary Dysplasia
Wheezing, Central apnea, Hyperoxemia, Abnormal respiratory system physiology, Tracheobronchomalac... ORPHA:70589
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Pelvic girdle muscle weakness, Myofibrillar myopathy, Achilles tendon contracture, Shoulder girdl... OMIM:603689
Sandhoff Disease
Hepatomegaly, Failure to thrive, Splenomegaly, Congestive heart failure, Recurrent respiratory in... ORPHA:796
Mckusick-Kaufman Syndrome
Hydronephrosis, Pulmonary hypoplasia, Hydroureter, Rectovaginal fistula, Vesicovaginal fistula, E... OMIM:236700
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Ventricular arrhythmia, Left ventricular hypertroph... OMIM:601493
Interstitial Pneumonitis, Desquamative, Familial
Cor pulmonale, Desquamative interstitial pneumonitis, Tachypnea, Cough, Respiratory distress, Rec... OMIM:263000
Rudiger Syndrome
Death in infancy, Bicornuate uterus, Micropenis, Flexion contracture, Short digit, High axial tri... OMIM:268650
Surfactant Metabolism Dysfunction, Pulmonary, 1
Desquamative interstitial pneumonitis, Neonatal respiratory distress, Death in infancy, Tachypnea... OMIM:265120
Retinitis Pigmentosa 59
Hepatomegaly, Intrauterine growth retardation, Failure to thrive, Micropenis, Cystoid macular ede... OMIM:613861
Mulibrey Nanism
Hepatomegaly, Pericardial constriction, Intrauterine growth retardation, Ascites, Thickened corte... OMIM:253250
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Right ventricular hypertrophy, Right ventricular dilatation, Pneumonia OMIM:253700
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Nonimmune hydrops fetalis, Death in infancy, Intrauterine growth retardation, Cardi... OMIM:608540
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hypertrophic cardiomyopathy, Hepatomegaly ORPHA:79281
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Dilated cardiomyopathy, Dysphagia, Myopathy, Ragged-red muscle fibers, Weakness of facial muscula... ORPHA:352447
Marshall-Smith Syndrome
Pectus excavatum, Recurrent aspiration pneumonia, Obstructive sleep apnea, Large sternal ossifica... OMIM:602535
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory failure, Central apnea, Death in infancy, Respiratory insufficiency OMIM:611722
Nephronophthisis 2
Pulmonary insufficiency, Hypertension, Chronic tubulointerstitial nephritis, Situs inversus total... OMIM:602088
Congenital Muscular Dystrophy With Intellectual Disability
Respiratory insufficiency, Skeletal muscle hypertrophy, Facial palsy, Reduced muscle fiber alpha ... ORPHA:370968
Cardiac Lipidosis, Familial
Congestive heart failure, Death in infancy, Cardiomyopathy OMIM:212080
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Cough, Upper limb muscle weakness, Respiratory failure, Dyspnea, Respiratory failure requiring as... ORPHA:90117
Bardet-Biedl Syndrome 11
Hypogonadism, Obesity OMIM:615988
3-Methylglutaconic Aciduria, Type V
Dilated cardiomyopathy, Hypospadias, Microvesicular hepatic steatosis, Prolonged QT interval, Non... OMIM:610198
Intermediate Nemaline Myopathy
Skeletal muscle atrophy, Facial diplegia, Facial palsy, Arthrogryposis multiplex congenita, Multi... ORPHA:171433
Surfactant Metabolism Dysfunction, Pulmonary, 2
Desquamative interstitial pneumonitis, Nonspecific interstitial pneumonia, Spontaneous pneumothor... OMIM:610913
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormality of blood circulation, Levotransposition of the great arteries, Anomalous pulmonary ve... ORPHA:860
Bardet-Biedl Syndrome 5
Polydactyly, External genital hypoplasia, Hypogonadism, Micropenis, Syndactyly, Brachydactyly OMIM:615983
Ring Chromosome Y Syndrome
Hypospadias, Unilateral cryptorchidism, Bifid scrotum, Streak ovary, Azoospermia, Abnormality of ... ORPHA:261529
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Aplasia of the uterus, Hypoparathyroidism, Hydronephrosis, Abnormal heart morphology, Renal dyspl... ORPHA:2237
Vaginal Atresia
Imperforate hymen, Vaginal hematocele, Uterus didelphys, Abnormality of the uterus, Vaginal atres... ORPHA:65681
Short Rib-Polydactyly Syndrome
Hypospadias, Abnormal ilium morphology, Short ribs, Reduced bone mineral density, Urogenital sinu... ORPHA:1505
Atrial Septal Defect, Ostium Secundum Type
Right ventricular failure, Syncope, Left-to-right shunt, ST segment depression, Transient ischemi... ORPHA:99103
Cardiomyopathy, Familial Hypertrophic, 15
Hypertrophic cardiomyopathy, Congestive heart failure, Endocardial fibrosis OMIM:613255
Oocyte Maturation Defect 9
Zygotic cleavage failure, Female infertility, Oocyte arrest at metaphase I OMIM:619011
Apert Syndrome
Cutaneous finger syndactyly, Cervical C5/C6 vertebrae fusion, Broad distal hallux, Ventricular se... OMIM:101200
Chromosome 6Q24-Q25 Deletion Syndrome
Right ventricular dilatation, Mitral valve prolapse, Dysplastic tricuspid valve, Intrauterine gro... OMIM:612863
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Pulmonary hypoplasia, Asplenia, Hepatic fibrosis, Pancreatic cysts, Bile duct proli... OMIM:208540
Kaposiform Lymphangiomatosis
Epidural hemorrhage, Pericardial effusion, Pancreatic cysts, Abnormality of femur morphology, Sub... ORPHA:464329
Familial Atrial Myxoma
Bacterial endocarditis, Cardiac myxoma, Ascites, Cardiomegaly, Tricuspid regurgitation, Jaundice,... ORPHA:615
Morbid Obesity And Spermatogenic Failure
Oligospermia, Hypertension, Infertility, Type II diabetes mellitus, Azoospermia, Myocardial infar... OMIM:615703
Cardiomyopathy, Dilated, 1R
Dilated cardiomyopathy, Ventricular arrhythmia, Restrictive cardiomyopathy, Left ventricular hype... OMIM:613424
Congenital Generalized Lipodystrophy
Hypertrophic cardiomyopathy, Hepatomegaly, Precocious puberty in females, Oligomenorrhea, Amenorr... ORPHA:528
Lethal Osteosclerotic Bone Dysplasia
Micrognathia, Intrauterine growth retardation, Mandibular aplasia, Respiratory distress, Respirat... ORPHA:1832
Bardet-Biedl Syndrome 12
Hypogonadism, Obesity OMIM:615989
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Abnormal vagina morphology, Ascites, Premature birth, Anemia, Polyhydramnios, Renal... ORPHA:2123
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Dilated cardiomyopathy, Myopathy, Respiratory insufficiency due to muscle weakness, Facial palsy,... OMIM:300580
Loeffler Endocarditis
Left atrial enlargement, Eosinophilia, Aortic valve stenosis, Pericarditis, Mitral regurgitation,... ORPHA:75566
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Neonatal respiratory distress, Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Multi... OMIM:616867
Tarp Syndrome
Micrognathia, Pectus excavatum, Intrauterine growth retardation, Rocker bottom foot, Postaxial po... ORPHA:2886
Congenital Toxoplasmosis
Hepatomegaly, Failure to thrive in infancy, Intrauterine growth retardation, Ascites, Premature b... ORPHA:858
Jeune Syndrome
Toe syndactyly, Aplasia/Hypoplasia of the lungs, Cone-shaped epiphysis, Respiratory insufficiency... ORPHA:474
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Preeclampsia, Pericarditis, Anemia, Abnormal hemoglobin, Polyhydramnios, Splenomega... ORPHA:163596
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Horizontal ribs, Lateral clavicle hook, Respiratory insufficiency, Postaxial polydactyly, Narrow ... OMIM:615633
Developmental And Epileptic Encephalopathy 71
Respiratory failure, Respiratory insufficiency OMIM:618328
Syndactyly Type 4
Toe syndactyly, 1-5 finger syndactyly, Triphalangeal thumb, Foot polydactyly, Camptodactyly of fi... ORPHA:93405
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Premature ventricular contraction, Right ventricular dilatation, Ventricular tachycardia, Palpita... OMIM:618920
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Dilated cardiomyopathy, Ventricular tachycardia, Edema, Palmoplantar keratoderma, Cardiomyocyte h... OMIM:605676
Uterine Anomalies
Abnormality of the uterus, Bicornuate uterus OMIM:192000
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydronephrosis, Atrioventricular canal defect, Urethral atresia, Proximal placement of thumb, Abs... OMIM:314390
Bardet-Biedl Syndrome 10
Polydactyly, Renal cyst, Hypogonadism, Obesity, Renal insufficiency, Abnormality of the kidney OMIM:615987
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Cardiomegaly, Congestive heart failure OMIM:300886
Pontocerebellar Hypoplasia, Type 4
Respiratory failure, Death in infancy, Congenital contracture OMIM:225753
Syndromic X-Linked Intellectual Disability 7
Hypogonadism, Micropenis, Obesity, Cryptorchidism, Hypoplasia of penis ORPHA:85274
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Dilated cardiomyopathy, Abnormality of the shoulder girdle musculature, Left ventricular hypertro... ORPHA:206546
Cardiomyopathy, Dilated, 1J
Dilated cardiomyopathy, Abnormal left ventricular function, Congestive heart failure, Sudden card... OMIM:605362
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Testicular dysgenesis, Gonadal dysgenesis with female appearance, male, Abnormal vagina morpholog... ORPHA:168563
Vacterl Association With Hydrocephalus
Radial club hand, Respiratory insufficiency, Abnormal heart morphology, Stillbirth, Absent thumb,... OMIM:276950
Pparg-Related Familial Partial Lipodystrophy
Hypertrophic cardiomyopathy, Secondary amenorrhea, Eclampsia, Maternal diabetes, Dysmenorrhea, Ol... ORPHA:79083
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Hypertrophic cardiomyopathy, Respiratory distress, Cyanosis, Myopathy ORPHA:91130
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Cardiomegaly, Congestive heart failure OMIM:618654
Bardet-Biedl Syndrome 16
Hypogonadism, Respiratory distress, External genital hypoplasia OMIM:615993
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypertrophic cardiomyopathy, Dysphagia, Obstructive sleep apnea, Abnormal reproductive system mor... ORPHA:70472
Congenital Pulmonary Lymphangiectasia
Chylopericardium, Hepatomegaly, Ascites, Pulmonary arterial hypertension, Tricuspid regurgitation... ORPHA:2414
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Hallux valgus, Pectus excavatum, Adducted thumb, Postaxial polydactyly, Short thumb, Overlapping ... OMIM:618167
Renal, Genital, And Middle Ear Anomalies
Vaginal atresia OMIM:267400
Hepatomegaly, Leukopenia, Clinodactyly of the 5th toe, Splenomegaly, Myocardial infarction, Conge... ORPHA:108
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Premature birth, Abnormal tricuspid valve morphology, Maternal diabetes ORPHA:1208
Postsynaptic Congenital Myasthenic Syndromes
Thoracic kyphoscoliosis, Restrictive ventilatory defect, Skeletal muscle atrophy, Weakness of the... ORPHA:98913
Greenberg Dysplasia
Epiphyseal stippling, Neonatal death, Short ribs, Abnormal bone structure, Multiple prenatal frac... OMIM:215140
Microphthalmia, Syndromic 12
Ventricular septal defect, Hypoplastic left atrium, Congenital diaphragmatic hernia, Bicornuate u... OMIM:615524
Severe Congenital Nemaline Myopathy
Hypospadias, Skeletal muscle atrophy, Adducted thumb, Thin ribs, Facial diplegia, Facial palsy, A... ORPHA:171430
Bardet-Biedl Syndrome 2
Dilated cardiomyopathy, Bicuspid aortic valve, External genital hypoplasia, Hypogonadism, Atrial ... OMIM:615981
Bardet-Biedl Syndrome 6
Hypospadias, Polydactyly, External genital hypoplasia, Renal cyst, Syndactyly, Diabetes mellitus,... OMIM:605231
Carnitine Deficiency, Systemic Primary
Hypertrophic cardiomyopathy, Hepatomegaly, Decreased carnitine level in liver, Failure to thrive,... OMIM:212140
Ovarian Dysgenesis 2
Secondary amenorrhea, Delayed puberty, Abnormality of the uterus, Primary amenorrhea, Premature o... OMIM:300510
Cirrhotic Cardiomyopathy
Left atrial enlargement, Ventricular arrhythmia, Third heart sound, Pulmonary edema, Jaundice, Gl... ORPHA:57777
Santos Syndrome
Metatarsus adductus, Polydactyly, Talipes equinovarus, Postaxial polydactyly, Genu valgum, Preaxi... OMIM:613005
Heart Defects-Limb Shortening Syndrome
Ventricular septal defect, Death in infancy, Abnormal mitral valve morphology, Abnormal tricuspid... ORPHA:1354
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Atrial fibrillation, Mi... OMIM:604169
Neurogenic Arthrogryposis Multiplex Congenita
Ankle flexion contracture, Skeletal muscle atrophy, Hip contracture, Abnormal heart morphology, R... ORPHA:1143
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Long palm, Missing ribs, Arachnodactyly, Respiratory distress, Recurrent respiratory infections, ... ORPHA:2759
Silver-Russell Syndrome Due To A Point Mutation
Hypospadias, Dysmenorrhea, Bifid scrotum, Small for gestational age, Polydactyly, Intrauterine gr... ORPHA:397590
Turnpenny-Fry Syndrome
Torticollis, Recurrent respiratory infections, Long thorax, Intrauterine growth retardation, Pect... OMIM:618371
Otopalatodigital Syndrome, Type Ii
Nonossified fifth metatarsal, Hypospadias, Undulate clavicles, Short metatarsal, Short ribs, Broa... OMIM:304120
Wild Type Attr Amyloidosis
Hypertrophic cardiomyopathy, Hepatomegaly, Orthostatic hypotension due to autonomic dysfunction, ... ORPHA:330001
Acropectoral Syndrome
Pectus excavatum, Triphalangeal thumb, Pectus carinatum, Preaxial polydactyly, Partial duplicatio... OMIM:605967
Restrictive Dermopathy 1
Hypospadias, Short umbilical cord, Ureteral duplication, Premature rupture of membranes, Overtubu... OMIM:275210
Oocyte Maturation Defect 8
Zygotic cleavage failure, Female infertility OMIM:619009
Xq27.3Q28 Duplication Syndrome
Intrauterine growth retardation, Failure to thrive, Truncal obesity, Hypogonadism, Premature ovar... ORPHA:261483
Gillessen-Kaesbach-Nishimura Syndrome
Ulnar deviation of the hand, Abnormal lung lobation, Short long bone, Abnormal heart morphology, ... OMIM:263210
Cardiomyopathy, Dilated, 1P
Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure, Ventricular arrhythmia OMIM:609909
Diethylstilbestrol Syndrome
Testicular dysgenesis, Hypospadias, Central apnea, Preeclampsia, Abnormal reproductive system mor... ORPHA:1916
Familial Partial Lipodystrophy, Dunnigan Type
Hypertrophic cardiomyopathy, Secondary amenorrhea, Eclampsia, Hepatomegaly, Dysmenorrhea, Polycys... ORPHA:2348
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Hydronephrosis, Intrauterine growth retardation, Polyhydramnios, Wrist flexion contracture, Long ... ORPHA:254528
Sensorineural Deafness With Dilated Cardiomyopathy
Dilated cardiomyopathy, Congestive heart failure, Abnormal cardiac ventricular function ORPHA:217622
Orofaciodigital Syndrome Iii
Short sternum, Pectus excavatum, Postaxial foot polydactyly, Postaxial hand polydactyly OMIM:258850
Isolated Right Ventricular Hypoplasia
Right ventricular failure, Systolic heart murmur, Bidirectional shunt, Right bundle branch block,... ORPHA:439
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I ORPHA:488191
Polydactyly, Postaxial, Type A1
Triphalangeal thumb, Preaxial polydactyly, Syndactyly, Postaxial hand polydactyly, Broad thumb OMIM:174200
Joubert Syndrome 18
Ventricular septal defect, Intrauterine growth retardation, Polydactyly, Camptodactyly, Joint laxity OMIM:614815
Peroxisome Biogenesis Disorder 8A (Zellweger)
Hepatomegaly, Ventricular septal defect, Death in infancy, Epiphyseal stippling, Elevated circula... OMIM:614876
Hypospadias, Sex reversal, Ulnar deviation of the hand, Ulnar deviation of the hand or of fingers... OMIM:612651
Ceroid Lipofuscinosis, Neuronal, 10
Respiratory insufficiency, Neonatal death, Apnea, Split hand, Respiratory failure OMIM:610127
Tricuspid Atresia
Ventricular septal defect, Tricuspid atresia, Hypoplasia of right ventricle, Transposition of the... ORPHA:1209
H Syndrome
Facial telangiectasia, Hallux valgus, Amenorrhea, Azoospermia, Bronchiectasis, Abnormality of the... ORPHA:168569
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum, Supraumbilical raphe OMIM:140850
Cystic renal dysplasia, Intrauterine growth retardation, Talipes equinovarus, Hammertoe, Narrow p... OMIM:608022
Cardiac-Urogenital Syndrome
Dextrocardia, Patent urachus, Ventricular septal defect, Aplasia of the uterus, Bifid scrotum, Dy... OMIM:618280
Cardiomyopathy, Dilated, 1L
Dilated cardiomyopathy, Congestive heart failure, Reduced systolic function OMIM:606685
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Congestive heart failure, Reduced systolic function OMIM:604765
Cardiomyopathy, Dilated, 1U
Dilated cardiomyopathy, Syncope, Congestive heart failure OMIM:613694
Cardiomyopathy, Dilated, 1V
Dilated cardiomyopathy, Syncope, Congestive heart failure OMIM:613697
Barth Syndrome
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Neutropenia, Talipes equinovarus, Failure to... OMIM:302060
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Hypertension, Left ventricular hypertrophy, Congestive heart failure, Diabetes mellitus, Wolff-Pa... OMIM:540000
Maternally-Inherited Diabetes And Deafness
Hypertrophic cardiomyopathy, Hypertension, Type II diabetes mellitus, Congestive heart failure, G... ORPHA:225
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Myopathy, Skeletal muscle atrophy, Respiratory insufficiency, Weakness of facial musculature, Res... ORPHA:254875
Prune Belly Syndrome
Talipes equinovarus, Urogenital sinus anomaly, Recurrent respiratory infections, Abnormality of t... ORPHA:2970
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Hydrocolpos, Dysmenorrhea, Premature birth, Metrorrhagia, Uterus didelphys, Dyspareunia, Partial ... ORPHA:3411
Sinusitis, Arthralgia/arthritis, Bronchial breath sound, Pericarditis, Abnormal respiratory syste... ORPHA:449280
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Respiratory insufficiency, Decreased fetal movement, Rimmed vacuoles, Skeletal muscle autophagoso... OMIM:619518
Perching Syndrome
Respiratory distress, Dysphagia, Flexion contracture, Camptodactyly OMIM:617055
Acute Interstitial Pneumonia
Reticulonodular pattern on pulmonary HRCT, Hypoxemia, Crackles, Pericardial effusion, Bronchiecta... ORPHA:79126
Cardiomyopathy, Dilated, 1B
Dilated cardiomyopathy, Impaired myocardial contractility, Congestive heart failure, Ventricular ... OMIM:600884
Primary Ciliary Dyskinesia
Wheezing, Pulmonary situs ambiguus, Neonatal respiratory distress, Recurrent sinopulmonary infect... ORPHA:244
Atrial Septal Defect, Coronary Sinus Type
Right ventricular failure, Syncope, Left-to-right shunt, Right ventricular dilatation, Pneumonia,... ORPHA:99104
Hand-Foot-Genital Syndrome
Hypospadias, Ventricular septal defect, Recurrent urinary tract infections, Spontaneous abortion,... ORPHA:2438
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Hepatomegaly, Death in infancy, Respiratory ... OMIM:614299
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Intrauterine growth retardation, Ascites, Talipes equinovarus, Failure to thrive, A... OMIM:608104
Scarf Syndrome
Pectus carinatum, Craniosynostosis, Short sternum, Diastasis recti, Joint hyperflexibility ORPHA:3134
Polydactyly, Preaxial Iv
3-4 finger syndactyly, Preaxial polydactyly, Duplication of thumb phalanx, 1-5 toe syndactyly, Dy... OMIM:174700
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Intrauterine growth retardation, Talipes equinovarus, Limb muscle weakness, Tachypnea, Ventilator... OMIM:604320
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Myopathy, Type 1 muscle fiber predominance, Triceps weakness, Generalized amyotrophy, Cough, Card... ORPHA:86812
Acquired Idiopathic Sideroblastic Anemia
Hepatomegaly, Leukocytosis, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythro... ORPHA:75564
Momo Syndrome
Abnormal bone ossification, Large hands, Congenital pseudoarthrosis of the clavicle, Short sternu... ORPHA:2563
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Nephrotic syndrome, Cardiomegaly, Cardiomyopathy, Left ventricular hypertrophy, Oli... OMIM:617713
Proximal Spinal Muscular Atrophy
Neonatal respiratory distress, Quadriceps muscle weakness, Restrictive ventilatory defect, Respir... ORPHA:70
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Bacterial endocarditis, Syncope, Mitral regurgi... ORPHA:3092
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Hypospadias, Bicuspid aortic valve, Neonatal respiratory distress, Dysplastic tricuspid valve, Ne... OMIM:265380
Renal Dysplasia
Abnormal renal calyx morphology, Chronic kidney disease, Hypertension, Abnormal nephron morpholog... ORPHA:93108
Carvajal Syndrome
Dilated cardiomyopathy, Patchy palmoplantar hyperkeratosis, Congestive heart failure ORPHA:65282
Autosomal Dominant Polycystic Kidney Disease
Hypertension, Mitral valve prolapse, Pancreatic cysts, Reduced sperm motility, Pituitary growth h... ORPHA:730
Cardiomyopathy, Dilated, 1Kk
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Atrial fibrillation, Mitral regurgitation, V... OMIM:615248
Cardiomyopathy, Dilated, 1Dd
Dilated cardiomyopathy, Congestive heart failure, Sudden cardiac death OMIM:613172
Combined Oxidative Phosphorylation Deficiency 51
Respiratory failure, Neonatal respiratory distress, Intrauterine growth retardation, Aspiration p... OMIM:619057
Epilepsy, Pyridoxine-Dependent
Respiratory distress, Neonatal respiratory distress, Fetal distress, Prenatal movement abnormality OMIM:266100
Alstrom Syndrome
Dilated cardiomyopathy, Tubulointerstitial nephritis, Insulin-resistant diabetes mellitus, Hypert... OMIM:203800
Idiopathic Pulmonary Hemosiderosis
Restrictive ventilatory defect, Hepatomegaly, Crackles, Cardiomegaly, Cough, Respiratory failure,... ORPHA:99931
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Hypospadias, Ventricular septal defect, Hydronephrosis, Intrauterine... OMIM:616897
Maternal Uniparental Disomy Of Chromosome X
Rocker bottom foot, Azoospermia, Cubitus valgus, Ambiguous genitalia, Gonadal tissue inappropriat... ORPHA:261519
Fraser Syndrome 1
Hypospadias, Cutaneous finger syndactyly, Renal hypoplasia, Myelomeningocele, Aplasia/Hypoplasia ... OMIM:219000
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Dilated cardiomyopathy, Hepatomegaly, Nonimmune hydrops fetalis, Fetal akinesia sequence, Ascites... ORPHA:367
Ulbright-Hodes Syndrome
Fibular aplasia, Severe intrauterine growth retardation, Micrognathia, Abnormal forearm bone morp... ORPHA:3404
Restrictive Dermopathy
Dextrocardia, Hypospadias, Short umbilical cord, Ureteral duplication, Premature delivery because... ORPHA:1662
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Hypertrophic cardiomyopathy, Respiratory distress, Death in infancy OMIM:604377
Attrv122I Amyloidosis
Hypertrophic cardiomyopathy, Cardiac amyloidosis, Reduced ejection fraction, Angina pectoris, Res... ORPHA:85451
Oocyte Maturation Defect 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
Combined Oxidative Phosphorylation Deficiency 23
Congestive heart failure, Intrauterine growth retardation, Arrhythmia, Cardiomyopathy OMIM:616198
Cornelia De Lange Syndrome 1
Micrognathia, 2-3 toe syndactyly, Hand oligodactyly, Ventricular septal defect, Pneumonia, Phocom... OMIM:122470
African Iron Overload
Hepatomegaly, Hepatic fibrosis, Abnormal thyroid morphology, Elevated hepatic iron concentration,... ORPHA:139507
Gm1-Gangliosidosis, Type I
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Hepatomegaly, Death in infancy, Intrauterine... OMIM:230500
Schinzel-Giedion Midface Retraction Syndrome
Long clavicles, Tibial bowing, Aplasia/Hypoplasia of the pubic bone, Hypoplasia of first ribs, Ta... OMIM:269150
Scarf Syndrome
Pectus carinatum, Short sternum, Diastasis recti, Barrel-shaped chest, Coronal craniosynostosis, ... OMIM:312830
Premature Ovarian Failure 6
Secondary amenorrhea, Streak ovary, Elevated circulating follicle stimulating hormone level, Fema... OMIM:612310
Thanatophoric Dysplasia, Type Ii
Small abnormally formed scapulae, Short greater sciatic notch, Respiratory insufficiency, Wide-cu... OMIM:187601
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Paroxysmal atrial tachycardia, Megaloblastic anemia, Atrial septal def... ORPHA:49827
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Dysphagia, Myopathy, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic ap... OMIM:605809
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Obesity, Cryptorchidism OMIM:309585
Myasthenic Syndrome, Congenital, 6, Presynaptic
Dysphagia, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic apnea, Type ... OMIM:254210
Distal Monosomy 19P13.3
Ventricular septal defect, Tricuspid valve prolapse, Pulmonary valve atresia, Vaginal hernia, Umb... ORPHA:96129
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Atrial fibrillation, Left ventricular hypertrophy, Congestive heart failu... OMIM:601494
Butyrylcholinesterase Deficiency
Respiratory failure, Respiratory failure requiring assisted ventilation ORPHA:132
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Abnormal left ventricular function, Mitral regurgitation, Congestive hear... OMIM:615373
Myopathy, Centronuclear, X-Linked
Neonatal respiratory distress, Facial palsy, Arachnodactyly, Diaphragmatic eventration, Flexion c... OMIM:310400
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory insufficiency, Limb undergrowth, Short ribs, Narrow chest, Respiratory failure, Thora... OMIM:273730
Complete Atrioventricular Septal Defect
Right ventricular failure, Left-to-right shunt, Third heart sound, Abnormal EKG, Abnormal P wave,... ORPHA:1329
Congenital Fibrinogen Deficiency
Hemorrhagic ovarian cyst, Opisthotonus, Right ventricular hypertrophy, Subcutaneous hemorrhage, L... ORPHA:335
Cardiac Valvular Defect, Developmental
Tricuspid atresia, Mitral valve prolapse, Mitral stenosis, Tricuspid valve prolapse, Urethral div... OMIM:212093
Hand-Foot-Genital Syndrome
Hypospadias, Longitudinal vaginal septum, Bifid scrotum, Uterus didelphys, Proximal placement of ... OMIM:140000
Diastrophic Dysplasia
Symphalangism affecting the phalanges of the hand, Proximal placement of thumb, Increased bone mi... ORPHA:628
Congenital Gerbode Defect
Right ventricular failure, Constrictive pericarditis, Ventricular septal defect, Bacterial endoca... ORPHA:99095
Pediatric-Onset Graves Disease
Increased circulating T4 level, Goiter, Neutropenia in presence of anti-neutropil antibodies, Spl... ORPHA:525731
Premature Ovarian Failure 7
Secondary amenorrhea, Elevated circulating follicle stimulating hormone level, Clitoral hypertrop... OMIM:612964
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Aspiration pneumonia, Upper airway obstruction ORPHA:141152
Cardiomyopathy, Familial Hypertrophic, 4
Hypertrophic cardiomyopathy, Hepatomegaly, Syncope, Pericardial effusion, Ascites, Ventricular hy... OMIM:115197
Beckwith-Wiedemann Syndrome
Renal cortical cysts, Adrenocortical carcinoma, Adrenocortical cytomegaly, Hepatomegaly, Gonadobl... OMIM:130650
Timothy Syndrome
Ventricular septal defect, Prolonged QT interval, Pneumonia, Cardiomegaly, Bradycardia, Syndactyl... OMIM:601005
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Metaphyseal spurs, Absent tibia, Cone-shaped epiphysis, Talipes equinovarus, Postaxial polydactyl... OMIM:613091
Heart-Hand Syndrome Type 2
Abnormality of the ulna, Short 5th metacarpal, Abnormality of the elbow, Aplasia/Hypoplasia of th... ORPHA:1350
Cednik Syndrome
Nephrotic syndrome, Hypogonadism, Congestive heart failure, Proteinuria, Diffuse palmoplantar hyp... ORPHA:66631
Orofaciodigital Syndrome Type 3
Pectus excavatum, Short sternum, Thoracic kyphosis, Postaxial foot polydactyly, Postaxial hand po... ORPHA:2752
Coffin-Lowry Syndrome
Broad palm, Pectus excavatum, Pectus carinatum, Tapered finger, Bifid sternum, Narrow iliac wing,... OMIM:303600
Cyanosis And Hepatic Disease
Cyanosis, Dyspnea OMIM:219400
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Gastrointestinal hemorrhage, Aortic valve stenosis, Ventricular septal def... ORPHA:363705
Carpenter Syndrome
Toe syndactyly, Polydactyly, Talipes equinovarus, Abnormal reproductive system morphology, Extern... ORPHA:65759
Attrv30M Amyloidosis
Atrioventricular block, Weight loss, Abnormal renal physiology, Cardiomegaly, Cardiomyopathy, Imp... ORPHA:85447
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Macroorchidism, Mitral valve prolapse, Mitral regurgitation, Cardiomegaly, Tricuspid regurgitatio... ORPHA:324410
Cardiomyopathy, Familial Hypertrophic, 8
Hypertrophic cardiomyopathy, Left atrial enlargement, Endocardial fibrosis, Palpitations, Restric... OMIM:608751
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Respiratory failure, Dysphagia, Weakness of facial musculature, Tremor OMIM:618637
Ovarian Dysgenesis 7
Delayed puberty, Primary amenorrhea, Hypoplasia of the uterus OMIM:618117
Neuraminidase Deficiency
Hepatomegaly, Ascites, Epiphyseal stippling, Vacuolated lymphocytes, Cardiomegaly, Cardiomyopathy... OMIM:256550
Myotubular Myopathy With Abnormal Genital Development
Hypospadias, Myopathy, Unilateral cryptorchidism, Bifid scrotum, Death in infancy, Neonatal death... OMIM:300219
Ovarian Dysgenesis 9
Decreased antimullerian hormone level, Elevated circulating follicle stimulating hormone level, H... OMIM:619665
Hereditary Amyloidosis With Primary Renal Involvement
Oligospermia, Tubulointerstitial nephritis, Decreased glomerular filtration rate, Tubulointerstit... ORPHA:85450
Fabry Disease
Hypertension, Abnormality of the hand, Lipiduria, Angina pectoris, Urinary mulberry cells, Anemia... OMIM:301500
Gaucher Disease Type 2
Hepatomegaly, Dysphagia, Abnormal pattern of respiration, Cough, Splenomegaly, Respiratory distre... ORPHA:77260
Toe syndactyly, Ulnar deviation of finger, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Se... ORPHA:1319
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Large for gestational age OMIM:240900
Mucocutaneous Ulceration, Chronic
Vaginal mucosal ulceration OMIM:618287
Criss-Cross Heart
Ventricular septal defect, Respiratory insufficiency, Tricuspid stenosis, Abnormal mitral valve m... ORPHA:1461
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Abnormality of the elbow, Uterus didelphys, Split hand, Abnormality of the wrist, Postaxial hand ... ORPHA:2491
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Wheezing, Hypoxemia, Ventricular septal defect, Neonatal respiratory distress, Congenital hypothy... OMIM:610978
Cardiomyopathy, Familial Hypertrophic, 1
Arrhythmia, Congestive heart failure, Asymmetric septal hypertrophy, Subvalvular aortic stenosis OMIM:192600
Nemaline Myopathy 5
Proximal amyotrophy, Myopathy, Shoulder flexion contracture, Z-band streaming, Hip contracture, P... OMIM:605355
Microphthalmia, Syndromic 9
Truncus arteriosus, Single ventricle, Bilateral lung agenesis, Ventricular septal defect, Renal m... OMIM:601186
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus, Death in infancy, Genu varum, Talipes equinovarus, Phocomelia, Bilateral r... OMIM:274000
Mucolipidosis Ii Alpha/Beta
Talipes equinovarus, Splenomegaly, Palpebral edema, Short long bone, Flat acetabular roof, Carpal... OMIM:252500
Congenital Multicore Myopathy With External Ophthalmoplegia
Abnormal respiratory system physiology, Abnormal skeletal muscle morphology, Internally nucleated... ORPHA:98905
Neu-Laxova Syndrome 1
Joint contracture of the hand, Small placenta, Finger syndactyly, Camptodactyly, Generalized edem... OMIM:256520
Chronic Thromboembolic Pulmonary Hypertension
Right ventricular failure, Syncope, Right ventricular dilatation, Abnormal T-wave, Palpitations, ... ORPHA:70591
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Mitral valve prolapse, Hypogonadism, Abnormal testis morphology, Obesity, Decreased fertility ORPHA:2233
Bardet-Biedl Syndrome 4
Polydactyly, External genital hypoplasia, Renal cyst, Hypogonadism, Syndactyly, Obesity, Cryptorc... OMIM:615982
Cardiomyopathy, Dilated, 1Hh
Dilated cardiomyopathy, Congestive heart failure OMIM:613881
Cardiomyopathy, Dilated, 2A
Dilated cardiomyopathy, Congestive heart failure OMIM:611880
Fraser Syndrome
Hypospadias, Toe syndactyly, Abnormal vagina morphology, Death in infancy, Renal hypoplasia, Myel... ORPHA:2052
Combined Oxidative Phosphorylation Deficiency 17
Hypertrophic cardiomyopathy, Congestive heart failure, Failure to thrive OMIM:615440
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Hepatomegaly, Pericarditis, Abnormal mitral ... ORPHA:732
Acromesomelic Dysplasia 3
Tarsal synostosis, Fibular aplasia, Talipes equinovarus, Short finger, Short toe, Short phalanx o... OMIM:609441
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Respiratory insufficiency, Premature birth, Ebstein anomaly of t... ORPHA:1880
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Micropenis, Cryptorchidism, Death in childhood OMIM:615597
Polycystic Ovary Syndrome 1
Obesity, Amenorrhea, Oligomenorrhea, Enlarged polycystic ovaries OMIM:184700
Simpson-Golabi-Behmel Syndrome, Type 1
Short greater sciatic notch, Neonatal respiratory distress, Talipes equinovarus, Broad toe, Short... OMIM:312870
Myopathy And Diabetes Mellitus
Proximal amyotrophy, Pelvic girdle muscle weakness, Weakness of facial musculature, Skeletal myop... ORPHA:2596
Fibrodysplasia Ossificans Progressiva
Hallux valgus, Ectopic ossification in muscle tissue, Aplasia/Hypoplasia of the phalanges of the ... ORPHA:337
Anemia, Congenital Dyserythropoietic, Type Iv
Hypertrophic cardiomyopathy, Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Reticuloc... OMIM:613673
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure, Ragged-red muscle fibers, Decreased fetal movement, Polyhydramnios OMIM:616794
Bone Dysplasia, Lethal Holmgren Type
Hypertrophic cardiomyopathy, Hepatomegaly, Metaphyseal dysplasia, Abnormality of femur morphology... ORPHA:1842
Cholesterol Pneumonia
Death in infancy, Pneumonia, Tachypnea, Cough, Cyanosis OMIM:215030
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Deep palmar crease, Hepatosplenomegaly, Recurrent respiratory infections, Hypertrophic cardiomyop... ORPHA:505248
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Right ventricular dilatation ORPHA:369847
Lethal Congenital Contracture Syndrome 10
Stiff neck, Micrognathia, Ventricular septal defect, Intrauterine growth retardation, Adducted th... OMIM:617022
Pulmonary Alveolar Microlithiasis
Testicular microlithiasis, Mitral valve calcification, Pleural thickening, Exertional dyspnea, Re... ORPHA:60025
Primary Lipodystrophy
Hypertension, Type II diabetes mellitus, Polycystic ovaries, Menometrorrhagia, Cardiomyopathy, Sp... ORPHA:90970
Infant Acute Respiratory Distress Syndrome
Hypoxemia, Pneumonia, Tachypnea, Abnormal thorax morphology, Respiratory tract infection, Pulmona... ORPHA:70587
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Bicuspid aortic valve, Aplasia/Hypoplasia of the lungs, Triphalangeal thumb, Respiratory insuffic... ORPHA:1120
Transaldolase Deficiency
Telangiectasia, Biventricular hypertrophy, Edema, Anemia, Cirrhosis, Hepatosplenomegaly, Atrial s... ORPHA:101028
Lymphoid Interstitial Pneumonia
Subpleural interstitial thickening, Hepatomegaly, Bronchiectasis, Failure to thrive, Weight loss,... ORPHA:79128
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Hereditary Motor And Sensory Neuropathy, Type Iic
Intercostal muscle weakness, Stridor, Obstructive sleep apnea, Hammertoe, Shoulder girdle muscle ... OMIM:606071
Apnea, Central Sleep
Cyanosis, Sleep apnea, Irregular respiration, Abnormal pattern of respiration OMIM:207720
Hepatomegaly, Adducted thumb, Small for gestational age, Failure to thrive, Abnormal heart morpho... ORPHA:79333
Tyrosinemia, Type I
Hypertrophic cardiomyopathy, Hepatomegaly, Renal Fanconi syndrome, Ascites, Hepatocellular carcin... OMIM:276700
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Neonatal respiratory distress, Death in infancy, Respiratory insufficiency, Skeletal muscle atrop... OMIM:245400
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the ovary, Decreased serum estradiol, Micropenis, Pr... OMIM:614841
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight OMIM:613375
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin-resistant diabetes mellitus, Polycystic ovaries, Elevated circulating growth hormone conc... ORPHA:90301
Tetraamelia Syndrome 1
Renal agenesis, Asplenia, Urethral atresia, Adrenal gland agenesis, Hypoplasia of the fallopian t... OMIM:273395
Igg4-Related Kidney Disease
Tubulointerstitial nephritis, Pleuritis, Abnormal lung morphology, Chronic kidney disease, Eosino... ORPHA:449395
Combined Oxidative Phosphorylation Defect Type 23
Hypertrophic cardiomyopathy, Paroxysmal dyspnea, Stridor, Right ventricular hypertrophy, Left ven... ORPHA:444013
Ulnar Hemimelia
Limited elbow flexion, Radial club hand, Metacarpal synostosis, Short forearm, Ulnar deviated clu... ORPHA:93320
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
Vaginal fistula, Myopathy, Skeletal muscle atrophy ORPHA:2597
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Failure to thrive in infancy, Death in infancy, Pulmonary arterial hypertension, Ca... OMIM:619064
Mosaic Trisomy 9
Talipes equinovarus, Renal dysplasia, Camptodactyly of finger, Finger clinodactyly, Hydrops fetal... ORPHA:99776
Refsum Disease, Classic
Abnormal renal physiology, Cardiomegaly, Cardiomyopathy, Congestive heart failure, Short fourth m... OMIM:266500
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hypertrophic cardiomyopathy, Secondary amenorrhea, Hepatomegaly, Dysmenorrhea, Ventricular arrhyt... ORPHA:280365
Complete Androgen Insensitivity Syndrome
Increased antimullerian hormone level, Aplasia of the uterus, Aplasia/Hypoplasia of the fallopian... ORPHA:99429
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Increased hepatic glycogen content, Tubulointerstitial fibrosis, Hypertension, Menorrhagia, Nephr... ORPHA:79259
Cantu Syndrome
Bicuspid aortic valve, Pericardial effusion, Metaphyseal widening, Broad first metatarsal, Cardio... OMIM:239850
Lethal Acantholytic Erosive Disorder
Intrauterine growth retardation, 3-4 finger syndactyly, Cardiomegaly, Cardiomyopathy, 4-5 finger ... ORPHA:158687
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Failure to thrive, Decreased fetal movement, Splenomegaly, Recurrent urinary tract ... OMIM:618495
Ovarian Fibrothecoma
Abnormality of the endometrium, Abnormality of the ovary, Increased serum testosterone level, Met... ORPHA:314478
Atelosteogenesis, Type Ii
Thoracic hypoplasia, Micrognathia, Short middle phalanx of finger, Short greater sciatic notch, R... OMIM:256050
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Intrauterine growth retardation, Premature birth, Polyhydramnios, Splenomegaly OMIM:618541
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cardiomyopathy OMIM:609016
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Micrognathia, Ventricular septal defect, Skeletal muscle atrophy, Arthrog... OMIM:607598
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Hypochromia, Azoospermia, Anemia, Splenomegaly, Hypogonadism, Poikilocytosis, Decre... OMIM:615234
Poland Syndrome
Abnormality of the ulna, Aplasia/Hypoplasia of the thumb, Abnormal sternum morphology, Asymmetry ... ORPHA:2911
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Hypertrophic cardiomyopathy, Hypertension, Abnormal heart valve morphology, Congestive heart fail... ORPHA:1345
Bardet-Biedl Syndrome 7
2-3 toe syndactyly, Polydactyly, Postaxial polydactyly, Hypogonadism, Clinodactyly OMIM:615984
Beta-Thalassemia Intermedia
Adrenal insufficiency, Splenomegaly, Hepatosplenomegaly, Diabetes mellitus, Jaundice, Anemia of i... ORPHA:231222
Neuralgic Amyotrophy
Acrocyanosis, Scapular winging, Respiratory insufficiency ORPHA:2901
Hepatomegaly, Pectus excavatum, Respiratory insufficiency, Tapered finger, Abnormality of epiphys... ORPHA:2746
Microphthalmia With Linear Skin Defects Syndrome
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Hypospadias, Abnormal penis morphology, Mitr... ORPHA:2556
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Combined Oxidative Phosphorylation Deficiency 15
Ventricular septal defect, Obesity, Wolff-Parkinson-White syndrome, Ventricular septal hypertrophy OMIM:614947
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Martsolf Syndrome 1
Metatarsus adductus, Slender ulna, Talipes equinovarus, Hypogonadotropic hypogonadism, Cardiomyop... OMIM:212720
Brain-Lung-Thyroid Syndrome
Hypospadias, Neonatal respiratory distress, Elevated circulating thyroid-stimulating hormone conc... ORPHA:209905
46,Xy Partial Gonadal Dysgenesis
Hypospadias, Adrenal insufficiency, Elevated circulating follicle stimulating hormone level, Urog... ORPHA:251510
Congenital Tracheomalacia
Wheezing, Neonatal respiratory distress, Apnea, Single ventricle, Decreased peak expiratory flow,... ORPHA:95430
Infantile-Onset X-Linked Spinal Muscular Atrophy
Interphalangeal joint contracture of finger, Abnormal muscle fiber morphology, Ankle flexion cont... ORPHA:1145
Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Exertional dyspnea, Multiple pulm... ORPHA:723
Johanson-Blizzard Syndrome
Dextrocardia, Hypospadias, Abnormal vagina morphology, Death in infancy, Hydronephrosis, Intraute... ORPHA:2315
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Absent ossification of cervical vertebral bodies, Neonatal death, Sclerotic scapulae, Lytic defec... OMIM:601376
Muscular Dystrophy, Duchenne Type
Dilated cardiomyopathy, Respiratory insufficiency, Cardiomyopathy, Muscular dystrophy, Hypoventil... OMIM:310200
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Hepatomegaly, Myopathy, Increased muscle lipid content, Ragged-red muscle fibers, Macroglossia, R... ORPHA:254864
Orofaciodigital Syndrome Xviii
Short middle phalanx of finger, Postaxial polydactyly, Genu valgum, Sandal gap, Preaxial polydact... OMIM:617927
Combined Oxidative Phosphorylation Deficiency 52
Respiratory failure, Adrenal insufficiency, Death in infancy, Hypertrophic cardiomyopathy OMIM:619386
Acrocephalopolydactylous Dysplasia
Cystic renal dysplasia, Hepatomegaly, Micromelia, Hepatic fibrosis, Ascites, Extrapulmonary seque... OMIM:200995
Congenital Neuronal Ceroid Lipofuscinosis
Neonatal respiratory distress, Apnea, Central sleep apnea, Split hand, Respiratory failure ORPHA:168486
Cortisone Reductase Deficiency 1
Obesity, Infertility, Precocious puberty, Oligomenorrhea OMIM:604931
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Hypospadias, Increased circulating progesterone, Aplasia of the uterus, Bifid scrotum, Elevated c... ORPHA:90793
Bardet-Biedl Syndrome 8
Hypospadias, Polydactyly, Situs inversus totalis, Renal dysplasia, Hypogonadism, Obesity OMIM:615985
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Talipes equinovarus, Abnormal femoral torsion, Abnormal right ventricle morphology, Long hallux, ... ORPHA:500095
Transaldolase Deficiency
Hepatomegaly, Ventricular septal defect, Telangiectasia, Intrauterine growth retardation, Hepatic... OMIM:606003
Gm1 Gangliosidosis
Abnormal diaphysis morphology, Ventricular septal defect, Failure to thrive, Abnormal heart morph... ORPHA:354
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypospadias, Elevated circulating follicle stimulating hormone level, Ambiguous genitalia, male, ... ORPHA:90796
Acro-Renal-Mandibular Syndrome
Intrauterine growth retardation, Thin ribs, Hypoplastic scapulae, Abnormal lung lobation, Pectus ... ORPHA:958
Partial Androgen Insensitivity Syndrome
Hypospadias, Increased antimullerian hormone level, Aplasia of the uterus, Increased serum testos... ORPHA:90797
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Myopathy, Cardiomyopathy ORPHA:26792
Bardet-Biedl Syndrome 17
Dextrocardia, Polydactyly, Situs inversus totalis, Renal cyst, Stage 5 chronic kidney disease, Me... OMIM:615994
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Autosomal Recessive Polycystic Kidney Disease
Abnormality of the intrahepatic bile duct, Cholangitis, Cholangiocarcinoma, Splenomegaly, Biliary... ORPHA:731
Omphalocele-Cleft Palate Syndrome, Lethal
Bicornuate uterus, Death in infancy OMIM:258320
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Decreased calvarial ossification, Long thorax, Horizontal ribs, Complete atrioventricular canal d... OMIM:617925
Seizures, Benign Familial Infantile, 3
Cyanosis, Apnea OMIM:607745
Congenital Disorder Of Glycosylation, Type Iil
Hepatomegaly, Ventricular septal defect, Death in infancy, Intrauterine growth retardation, Peau ... OMIM:614576
Noonan Syndrome 3
Hypertrophic cardiomyopathy, Ventricular septal defect, Mitral valve prolapse, Tricuspid valve pr... OMIM:609942
Multiple Mitochondrial Dysfunctions Syndrome 3
Respiratory failure, Intrauterine growth retardation, Arthrogryposis multiplex congenita, Respira... OMIM:615330
Erdheim-Chester Disease
Hydronephrosis, Diabetes insipidus, Abnormal aortic valve morphology, Abnormality of epiphysis mo... ORPHA:35687
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Skeletal muscle atrophy, Respiratory insufficiency, Increased variability i... ORPHA:238329
Ehlers-Danlos Syndrome, Classic-Like
Proximal amyotrophy, Mitral valve prolapse, Quadricuspid aortic valve, Ambiguous genitalia, femal... OMIM:606408
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Azoospermia, Hypogonadotropic hypogonadism, Gonadotropin deficiency, Micropenis, Primary amenorrh... OMIM:614837
Premature Ovarian Failure 18
Secondary amenorrhea, Decreased antimullerian hormone level, Elevated circulating follicle stimul... OMIM:619203
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Limb muscle weakness, Proximal ... OMIM:613954
Seizures, Benign Familial Infantile, 1
Cyanosis, Apnea OMIM:601764
American Trypanosomiasis
Myocarditis, Hepatomegaly, Edema, Cardiomyopathy, Splenomegaly, Congestive heart failure, Periorb... ORPHA:3386
Hypertrophic cardiomyopathy, Central hypothyroidism, Hepatomegaly, Hypercalciuria, Severe intraut... ORPHA:508
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Dysphagia, Recurrent aspiration pneumonia, Respiratory insufficiency due to muscle weakness, Trem... ORPHA:2590
Primary Pulmonary Hypoplasia
Abnormal breath sound, Hypoxemia, Dextrocardia, Neonatal respiratory distress, Abnormal hemidiaph... ORPHA:2257
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Postaxial polydactyly, Short metatarsal, Limb undergrowth, Short thorax, Sandal gap, Respiratory ... OMIM:617102
Bardet-Biedl Syndrome 19
Hypogonadism, Obesity, External genital hypoplasia OMIM:615996
Atrial Standstill
Syncope, Abnormal P wave, Atrial standstill, Ventricular escape rhythm, Reduced ejection fraction... ORPHA:1344
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Respiratory distress, Distal amyotrophy OMIM:619099
46,Xy Sex Reversal 11
Gonadal dysgenesis with female appearance, male, Vanishing testis, Aplasia of the uterus, Decreas... OMIM:273250
Oocyte Maturation Defect 11
Female infertility OMIM:619643
Oocyte Maturation Defect 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Preimplantation Embryonic Lethality 1
Female infertility OMIM:616814
Oocyte Maturation Defect 7
Female infertility OMIM:618550
Peroxisome Biogenesis Disorder 4A (Zellweger)
Respiratory failure, Hepatomegaly, Death in infancy, Epiphyseal stippling OMIM:614862
Beta-Thalassemia Major
Dilated cardiomyopathy, Adrenal insufficiency, Anisopoikilocytosis, Splenomegaly, Hepatosplenomeg... ORPHA:231214
3-Methylglutaconic Aciduria, Type Viii
Respiratory failure, Apnea, Death in infancy, Tremor OMIM:617248
Obesity, Increased waist to hip ratio OMIM:601665
Sandestig-Stefanova Syndrome
Intrauterine growth retardation, Rocker bottom foot, Perimembranous ventricular septal defect, Bi... OMIM:618804
Congenital diaphragmatic hernia, Bifid sternum, Sirenomelia ORPHA:63260
Combined Oxidative Phosphorylation Deficiency 41
Nonimmune hydrops fetalis, Intrauterine growth retardation, Premature birth, Anemia, Cardiomegaly... OMIM:618838
Donnai-Barrow Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia, Abnormality of the uterus, Bicornuate... ORPHA:2143
Congenital finger flexion contractures, Short toe, Syndactyly, Septate vagina, Hand polydactyly, ... OMIM:114150
Cardiomyopathy, Familial Restrictive, 6
Pulmonary insufficiency, Hepatomegaly, Death in infancy, Ascites, Restrictive cardiomyopathy, Tri... OMIM:619433
Immunodeficiency 54
Hepatomegaly, Intrauterine growth retardation, Respiratory insufficiency, Splenomegaly, Respirato... OMIM:609981
Central Precocious Puberty
Overgrowth, Isosexual precocious puberty, Premature thelarche, Prenatal maternal abnormality, Obe... ORPHA:759
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Diabetes insipidus, Nephrocalcinosis, Failure to thrive, Polyhydramnios, Atrial septal defect, Co... ORPHA:500533
Bilateral Striopallidodentate Calcinosis
Abnormality of the liver, Hepatomegaly, Intrauterine growth retardation, Thrombocytopenia ORPHA:1980
Incessant Infant Ventricular Tachycardia
Cardiac rhabdomyoma, Abnormal P wave, Histiocytoid cardiomyopathy, Ventricular tachycardia, Supra... ORPHA:45453
Laryngotracheal Angioma
Wheezing, Stridor, Apnea, Cough, Respiratory distress, Cyanosis, Intercostal retractions ORPHA:137935
Multiple Mitochondrial Dysfunctions Syndrome 1
Respiratory failure, Pulmonary arterial hypertension, Respiratory insufficiency OMIM:605711
Hemochromatosis, Type 4
Hepatomegaly, Anemia, Cardiomyopathy, Cirrhosis, Hepatic steatosis, Diabetes mellitus, Impotence,... OMIM:606069
Immunodeficiency 48
Failure to thrive, Hepatomegaly, Pneumonia, Splenomegaly OMIM:269840
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus, Genu varum, Phocomelia, Finger syndactyly, Tibial torsion, Aplasia/Hypopla... ORPHA:3320
Synpolydactyly 2
Tarsal synostosis, Toe syndactyly, Polydactyly, Metacarpal synostosis, Carpal synostosis, Metatar... OMIM:608180
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Bifid scrotum, Respiratory insufficiency, Thin ribs, Penoscrotal hypospadias, Joint hypermobility... ORPHA:456328
Roifman Syndrome
Hepatomegaly, Ventricular septal defect, Single transverse palmar crease, Intrauterine growth ret... OMIM:616651
Kagami-Ogata Syndrome
Premature birth, Hepatoblastoma, Polyhydramnios, Large for gestational age, Coxa valga, Large pla... ORPHA:254519
Histiocytosis-Lymphadenopathy Plus Syndrome
Facial telangiectasia, Hallux valgus, Pancreatic hypoplasia, Splenomegaly, Micropenis, Hepatosple... OMIM:602782
Hydrops Fetalis, Nonimmune
Nonimmune hydrops fetalis, Anemia, Congestive heart failure, Hydrops fetalis OMIM:236750
Fatco Syndrome
Tarsal synostosis, Respiratory insufficiency, Finger syndactyly, Absent hand, Split hand, Abnorma... ORPHA:2492
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Obesity, Cryptorchidism, Hypoplasia of penis, Aplasia/Hypoplasia of the testes ORPHA:3055
Fanconi Anemia
Hypospadias, Aplasia/Hypoplasia of fingers, Abnormality of the ulna, Triphalangeal thumb, Aplasia... ORPHA:84
Dominant Beta-Thalassemia
Dilated cardiomyopathy, Adrenal insufficiency, Splenomegaly, Hepatosplenomegaly, Hypersplenism, D... ORPHA:231226
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy OMIM:616341
Normosmic Congenital Hypogonadotropic Hypogonadism
Secondary amenorrhea, Azoospermia, Hypogonadotropic hypogonadism, Absence of pubertal development... ORPHA:432
Ciliary Dyskinesia, Primary, 2
Sinusitis, Dextrocardia, Infertility, Ciliary dyskinesia, Bronchiectasis, Situs inversus totalis,... OMIM:606763
16P13.11 Microduplication Syndrome
Pectus excavatum, Ventricular septal defect, Craniosynostosis, Arachnodactyly, Transposition of t... ORPHA:261243
Melnick-Needles Syndrome
Micrognathia, Short clavicles, Respiratory insufficiency, Bowing of the long bones, Short thorax,... ORPHA:2484
Secondary amenorrhea, Hepatomegaly, Oligomenorrhea, Decreased serum insulin-like growth factor 1,... ORPHA:352
Congenital Fiber-Type Disproportion Myopathy
Cor pulmonale, Pelvic girdle muscle weakness, Hip contracture, Talipes equinovarus, Respiratory f... ORPHA:2020
Perrault Syndrome 6
Secondary amenorrhea, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Irregula... OMIM:617565
Cardiomyopathy, Dilated, 2E
Dilated cardiomyopathy, Death in infancy, Ebstein anomaly of the tricuspid valve, Death in childhood OMIM:619492
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Severe intrauterine growth retardation, Intrauterine growth retardation, Small for gestational ag... ORPHA:73272
Cryptogenic Organizing Pneumonia
Wheezing, Hypoxemia, Bronchial breath sound, Crackles, Pneumothorax, Cough, Respiratory distress,... ORPHA:1302
Meconium Aspiration Syndrome
Wheezing, Hypoxemia, Fetal distress, Maternal diabetes, Premature rupture of membranes, Atelectas... ORPHA:70588
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Ventricular septal defect, Intrauterine growth retardation, Postaxial polydactyly, Preaxial polyd... OMIM:618142
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Hepatic Veno-Occlusive Disease
Respiratory failure, Hepatomegaly, Jaundice ORPHA:890
Perrault Syndrome 4
Secondary amenorrhea, Oligomenorrhea, Hypoplasia of the ovary, Increased circulating gonadotropin... OMIM:615300
Chromosome 18Q Deletion Syndrome
Hypospadias, Toe syndactyly, Ventricular septal defect, Failure to thrive in infancy, Umbilical h... OMIM:601808
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Bicuspid aortic valve, Toe syndactyly, Intrauterine growth retardation, Small for gestational age... OMIM:300707
Classic Multiminicore Myopathy
Right ventricular failure, Mitral valve prolapse, Right ventricular hypertrophy, Failure to thriv... ORPHA:324604
Congenital Disorder Of Glycosylation, Type Iie
Hepatomegaly, Hydronephrosis, Intrauterine growth retardation, Adducted thumb, Failure to thrive,... OMIM:608779
Simple Cryoglobulinemia
Raynaud phenomenon, Mesangial hypercellularity, Gastrointestinal hemorrhage, Vasculitis, Microsco... ORPHA:91139
Dysplastic Cortical Hyperostosis
Hepatomegaly, Aplasia/Hypoplasia of the lungs, Abnormality of the urinary system, Limb undergrowt... ORPHA:2204
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Myopathy, Reduced subcutaneous adipose tissue, Tremor, Respiratory failure, Hyperin... ORPHA:363400
Staphylococcal Necrotizing Pneumonia
Hypoxemia, Pneumonia, Tachypnea, Pneumothorax, Cough, Pleural empyema, Respiratory distress, Acut... ORPHA:36238
Histiocytoid Cardiomyopathy
Hepatomegaly, Ventricular septal defect, Atrial fibrillation, Failure to thrive, Atrioventricular... ORPHA:137675
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Cardiomegaly, Tricuspid regurgitation, Bilateral cryptorchidism, Atria... OMIM:618652
Orofaciodigital Syndrome Xvii
Renal hypoplasia, Polydactyly, Micropenis, Tetralogy of Fallot, Partial duplication of thumb phal... OMIM:617926
X-Linked Centronuclear Myopathy
Necklace skeletal muscle fibers, Pneumonia, Weakness of facial musculature, Premature birth, Decr... ORPHA:596
Pleural Mesothelioma
Hepatomegaly, Dysphagia, Abnormal respiratory system physiology, Cough, Respiratory distress, Dys... ORPHA:50251
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Thoraco-Abdominal Enteric Duplication
Dextrocardia, Hepatomegaly, Meningocele, Respiratory insufficiency, Abnormal tricuspid valve morp... ORPHA:1759
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Bilateral lung agenesis, Abnormal cardiac septum morphology, Neonatal death, Respiratory insuffic... OMIM:601612
Recurrent Respiratory Papillomatosis
Wheezing, Dysphagia, Stridor, Respiratory insufficiency, Tachypnea, Choking episodes, Upper airwa... ORPHA:60032
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Abnormality of the metaphysis, Splenomegaly, Abnormal calcium-phosphate regulating ... ORPHA:417
Achondrogenesis, Type Ib
Absent or minimally ossified vertebral bodies, Respiratory insufficiency, Short ribs, Stillbirth,... OMIM:600972
Naxos Disease
Dilated cardiomyopathy, Syncope, Paroxysmal ventricular tachycardia, Premature ventricular contra... OMIM:601214
Myotonic Dystrophy 1
Testicular atrophy, Dysphagia, Facial diplegia, Decreased fetal movement, Cholelithiasis, Polyhyd... OMIM:160900
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Dilated cardiomyopathy, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive OMIM:615895
Coenzyme Q10 Deficiency, Primary, 8
Left ventricular hypertrophy, Respiratory distress, Oligohydramnios, Flexion contracture OMIM:616733
Smith-Lemli-Opitz Syndrome
Hypospadias, 2-3 toe syndactyly, Bifid scrotum, Epiphyseal stippling, Proximal placement of thumb... OMIM:270400
Teebi Hypertelorism Syndrome 1
Broad palm, Ventricular septal defect, Craniosynostosis, Small hand, Bicornuate uterus, Atrial se... OMIM:145420
Gaucher Disease, Perinatal Lethal