Gene: Igf2r MGI:96435

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

insulin-like growth factor 2 receptor

Synonyms:

IGF-II/CI-MPR, Mpr300, CI-MPR, M6P/IGF2R, mannose-6-phosphate receptor, cation independent, CD222

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 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.

Human diseases associated with Igf2r (1 diseases)
Human diseases predicted to be associated with Igf2r (1719 diseases)

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

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

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

Disease	Matching phenotypes	Source
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Syndactyly Type 2	Postaxial foot polydactyly, Sandal gap, Camptodactyly of finger, Preaxial foot polydactyly, 2-3 t...	ORPHA:93403
Congenital Absence Of Upper Arm And Forearm With Hand Present	Abnormal heart morphology, Abnormal hip bone morphology, Abnormal thorax morphology, Polydactyly,...	ORPHA:294975
Spinal Muscular Atrophy, Type I	Proximal muscle weakness in lower limbs, Respiratory insufficiency, Death in childhood, Spinal mu...	OMIM:253300
Peripartum Cardiomyopathy	Abnormal cardiac atrium morphology, Mitral regurgitation, Elevated jugular venous pressure, Left ...	ORPHA:563
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Limited k...	ORPHA:266
Lethal Congenital Contracture Syndrome 3	Skeletal muscle atrophy, Respiratory insufficiency, Multiple joint contractures, Neonatal death, ...	OMIM:611369
Idiopathic/Heritable Pulmonary Arterial Hypertension	Tricuspid regurgitation, Palpitations, Abnormal cardiovascular system physiology, Pulmonary arter...	ORPHA:422
Metatropic Dysplasia	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Flat ace...	OMIM:156530
Coronary Arterial Fistula	Aortic valve stenosis, Bicuspid aortic valve, Arrhythmia, Elevated jugular venous pressure, Atria...	ORPHA:2041
Renal Hypodysplasia/Aplasia 1	Bilateral renal agenesis, Oligohydramnios, Proteinuria, Talipes equinovarus, Anhydramnios, Primar...	OMIM:191830
Congenital Radioulnar Synostosis	Congenital hip dislocation, Abnormality of the musculature of the upper arm, Limited elbow moveme...	ORPHA:3269
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatic failure, Abnormality of the uterus, Ascites, Pancreatic lymphangiectasis, Hepatosplenomeg...	ORPHA:1655
Synpolydactyly 1	Postaxial foot polydactyly, Broad hallux, Finger syndactyly, Preaxial foot polydactyly, Mesoaxial...	OMIM:186000
Bardet-Biedl Syndrome 1	Postaxial foot polydactyly, Abnormality of the kidney, Foot polydactyly, Short foot, Syndactyly, ...	OMIM:209900
Multiple Synostoses Syndrome 1	Carpal synostosis, Cutaneous finger syndactyly, Proximal/middle symphalangism of 5th toe, Lower l...	OMIM:186500
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset	Increased variability in muscle fiber diameter, Muscle fiber intracytoplasmic reducing inclusion ...	OMIM:300717
Ethanolaminosis	Cardiomegaly, Death in infancy	OMIM:227150
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Short distal phalanx of finger, Short thumb, Sandal gap, Broad hallux, Joint stiffness, Overlappi...	OMIM:618167
Combined Oxidative Phosphorylation Deficiency 8	Failure to thrive, Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left ventricula...	OMIM:614096
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Umbilical hernia, Abnormal heart morphology, Large for gestational age, Large placenta, Ventricul...	ORPHA:254534
Hydatidiform Mole	Menometrorrhagia, Hyperthyroidism, Enlarged uterus, Miscarriage	ORPHA:99927
Mosaic Trisomy 16	Short forearm, Pulmonary hypoplasia, Clinodactyly, Short femoral neck, Short thumb, Abnormal hear...	ORPHA:1708
Meacham Syndrome	Aortic valve stenosis, Abnormal vagina morphology, Hydrometrocolpos, Abnormality of the spleen, C...	ORPHA:3097
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Lambdoidal craniosynostosis, Coronal craniosynostosis, Narrow chest, Narrow pelvis bone, Femoral ...	OMIM:207410
Cardiomyopathy, Dilated, 1I	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Car...	OMIM:604765
Greenberg Dysplasia	Fractured rib, Postaxial foot polydactyly, Hepatosplenomegaly, Large placenta, Neonatal death, Di...	OMIM:215140
Renal-Hepatic-Pancreatic Dysplasia 2	Aortic valve stenosis, Malformation of the hepatic ductal plate, Hepatic fibrosis, Abnormal lung ...	OMIM:615415
Dysosteosclerosis	Absent paranasal sinuses, Sclerosis of hand bone, Micrognathia, Absent frontal sinuses, Diaphysea...	OMIM:224300
Atrial Septal Defect, Ostium Primum Type	Mitral regurgitation, Abnormally loud pulmonic component of the second heart sound, Right atrial ...	ORPHA:99106
Infantile Sialic Acid Storage Disease	Failure to thrive, Congestive heart failure, Ascites, Splenomegaly, Death in childhood, Cardiomeg...	OMIM:269920
Trichohepatoenteric Syndrome 1	Cholestasis, Large placenta, Ventricular septal defect, Cirrhosis, Hepatomegaly, Jaundice, Hyposp...	OMIM:222470
Spondylometaphyseal Dysplasia, X-Linked	Pectus carinatum, Respiratory insufficiency, Short finger, Sclerosis of skull base, Knee flexion ...	OMIM:313420
Syndactyly, Type Iv	Supernumerary metacarpal bones, 1-5 finger complete cutaneous syndactyly, Polydactyly, 2-3 toe sy...	OMIM:186200
Atrial Septal Defect, Sinus Venosus Type	Junctional ectopic tachycardia, Paradoxical splitting of the second heart sound, Atrial flutter, ...	ORPHA:99105
Pontocerebellar Hypoplasia, Type 1C	Skeletal muscle atrophy, Respiratory insufficiency, Death in childhood, Spinal muscular atrophy, ...	OMIM:616081
Hemochromatosis, Type 2B	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Conges...	OMIM:613313
Meckel Syndrome, Type 1	Postaxial foot polydactyly, Occipital encephalocele, Clinodactyly, Abnormality of the ureter, Lar...	OMIM:249000
Hemochromatosis, Type 2A	Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Azoospermia, Splenomegaly, Hypo...	OMIM:602390
Bent Bone Dysplasia Syndrome 2	Thin ribs, Osteopenia, Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, Hypoplastic ili...	OMIM:620076
Camptosynpolydactyly, Complex	Camptodactyly, Syndactyly, Cutaneous syndactyly, Polydactyly	OMIM:607539
Alg9-Cdg	Ventricular septal defect, Talipes equinovarus, Atrial septal defect, Broad ischia, Hepatomegaly,...	ORPHA:79328
Ullrich Congenital Muscular Dystrophy	Increased variability in muscle fiber diameter, Hip dislocation, Slender finger, Increased endomy...	ORPHA:75840
Hemochromatosis, Type 1	Impotence, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Congestive he...	OMIM:235200
Meckel Syndrome, Type 8	Occipital encephalocele, Hyperechogenic kidneys, Encephalocele, Polydactyly, Talipes equinovarus,...	OMIM:613885
Congenital Myopathy 14	Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Elbow fle...	OMIM:618414
Atrial Fibrillation, Familial, 10	Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Permanent atrial fibrill...	OMIM:614022
Cardiomyopathy, Dilated, 1R	Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular n...	OMIM:613424
Bardet-Biedl Syndrome 6	External genital hypoplasia, Postaxial polydactyly, Vaginal atresia, Hypospadias, Syndactyly	OMIM:605231
Congenital Arthrogryposis With Anterior Horn Cell Disease	Hand clenching, Skeletal muscle atrophy, Facial diplegia, Cryptorchidism, Single transverse palma...	OMIM:611890
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability	Hypoplasia of the capital femoral epiphysis, Limb muscle weakness, Hand muscle atrophy, Joint hyp...	OMIM:600561
Tarp Syndrome	Clinodactyly, Tetralogy of Fallot, Intrauterine growth retardation, Micrognathia, Single transver...	OMIM:311900
Hepatorenocardiac Degenerative Fibrosis	Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Hyperechogeni...	OMIM:619902
Apert Syndrome	Delayed epiphyseal ossification, Lambdoidal craniosynostosis, Broad thumb, Synostosis of carpal b...	OMIM:101200
Oocyte/Zygote/Embryo Maturation Arrest 10	Formation of multiple pronuclei during fertilization, Repeated implantation failure, Female infer...	OMIM:619176
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Ventricular hypertrophy, Failure to thrive, Congestive heart failure, Elevated circulating aspart...	OMIM:619048
Nemaline Myopathy 8	Nemaline bodies, Myofibrillar myopathy, Death in infancy, Flexion contracture, Facial palsy, Resp...	OMIM:615348
Bardet-Biedl Syndrome 12	Postaxial foot polydactyly, Hydroureter, Hydrometrocolpos, Hypogonadism, Obesity, Polydactyly, Hy...	OMIM:615989
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Failure to thrive, Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Anemia, Thrombocytopen...	OMIM:615285
Nephronophthisis 16	Aortic valve stenosis, Periportal fibrosis, Nephronophthisis, Hypertrophic cardiomyopathy, Choles...	OMIM:615382
Meacham Syndrome	Death in childhood, Ventricular septal defect, Neonatal death, Bicuspid aortic valve, Male pseudo...	OMIM:608978
Congenital Myopathy 10A, Severe Variant	Increased variability in muscle fiber diameter, Respiratory insufficiency, Camptodactyly of finge...	OMIM:614399
Triphalangeal Thumb, Nonopposable	Triphalangeal thumb, Polydactyly	OMIM:190600
Cardiomyopathy, Dilated, 1M	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, End...	OMIM:607482
Fibrodysplasia Ossificans Progressiva	Broad femoral neck, Short 1st metacarpal, Small cervical vertebral bodies, Respiratory insufficie...	OMIM:135100
Endocardial Fibroelastosis	Restrictive cardiomyopathy, Sandal gap, Congestive heart failure, Endocardial fibroelastosis, Cry...	ORPHA:2022
Meckel Syndrome 12	Renal hypoplasia, Bilateral renal agenesis, Intrauterine growth retardation, Oligohydramnios, Vag...	OMIM:616258
Polydactyly, Postaxial, Type A1	Broad thumb, Postaxial foot polydactyly, Cutaneous syndactyly of toes, Broad hallux, Preaxial han...	OMIM:174200
Immunodeficiency, Common Variable, 6	Abnormal T cell count, Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Abnor...	OMIM:613496
Aa Amyloidosis	Nephropathy, Chronic kidney disease, Hypotension, Acute kidney injury, Renal amyloidosis, Abnorma...	ORPHA:85445
Arthrogryposis Multiplex Congenita 6	Nemaline bodies, Increased variability in muscle fiber diameter, Death in childhood, Death in inf...	OMIM:619334
Tetraamelia-Multiple Malformations Syndrome	Aplasia/Hypoplasia involving the pelvis, Abnormal lung lobation, Cryptorchidism, Missing ribs, Ap...	ORPHA:3301
Pulmonary Hypoplasia, Primary	Neonatal death	OMIM:265430
Congenital Syphilis	Pneumonia, Extramedullary hematopoiesis, Intrauterine growth retardation, Hepatosplenomegaly, Lar...	ORPHA:499009
Endometriosis, Susceptibility To, 1	Dysmenorrhea, Decreased fertility, Endometriosis	OMIM:131200
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Camptodactyly of finger, Hypertrophic cardiomyopathy, Congestive heart failure, Intrauterine grow...	ORPHA:1194
Cardiomyopathy, Dilated, 1Ff	Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac...	OMIM:613286
Spermatogenic Failure, X-Linked, 1	Sertoli cell-only phenotype, Obesity	OMIM:305700
Sandhoff Disease	Failure to thrive, Congestive heart failure, Splenomegaly, Hepatomegaly, Recurrent respiratory in...	ORPHA:796
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Hypoplastic scapulae, Short tibia, Thumb contracture, Hypoplastic iliac wing, Hepatosplenomegaly,...	ORPHA:96334
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Atrioventricular canal defect, Absence of stomach bubble on fetal sonography, Short humerus, Neon...	OMIM:314390
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypertrophic cardiomyopathy, Intrauterine growth retardation, Oligohydramnios, Cryptorchidism, Ca...	OMIM:620135
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Hypoplastic ilia, Pulmonary hypoplasia, Narrow chest, Thoracic hypoplasia, Lateral clavicle hook,...	OMIM:617895
Renal-Hepatic-Pancreatic Dysplasia 1	Aortic valve stenosis, Cholestasis, Neonatal death, Cirrhosis, Atrial septal defect, Hepatomegaly...	OMIM:208540
Symptomatic Form Of Hfe-Related Hemochromatosis	Arrhythmia, Cirrhosis, Elevated jugular venous pressure, Weight loss, Hepatomegaly, Hypogonadotro...	ORPHA:465508
Bardet-Biedl Syndrome 19	Hypoplastic left heart, Renal hypoplasia, Postaxial foot polydactyly, Hypogonadism, Mesoaxial han...	OMIM:615996
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Pulmonary embolism, Edema, Congestive heart failure, Abnormality of ...	ORPHA:90308
Beckwith-Wiedemann Syndrome	Subchorionic septal cyst, Nephropathy, Large placenta, Cryptorchidism, Hepatoblastoma, Hepatomega...	ORPHA:116
Polycystic Kidney Disease 5	Hyperechogenic kidneys, Hepatosplenomegaly, Stage 5 chronic kidney disease, Reduced renal cortico...	OMIM:617610
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Lipid accumulation in hepatocytes, Arrhythmia, Elevated circulating alanine aminotransferase conc...	OMIM:608836
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Neonatal death, Tubulointerstitial fibrosis, Hepatomegaly, Polycystic kidney dysplasia, Renal ins...	OMIM:263200
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Dilated cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Left ventricular noncompa...	OMIM:601493
Hyperekplexia 4	Talipes equinovarus, Distal arthrogryposis, Adducted thumb, Camptodactyly, Flexion contracture, R...	OMIM:618011
Mucopolysaccharidosis-Plus Syndrome	Death in childhood, Atrial septal defect, Neutropenia, Hepatomegaly, Nephrotic syndrome, Macroves...	OMIM:617303
Rudiger Syndrome	Death in infancy, Ovarian cyst, Single transverse palmar crease, Short digit, Micropenis, Flexion...	OMIM:268650
Mulibrey Nanism	Congestive heart failure, Ascites, Intrauterine growth retardation, Single transverse palmar crea...	OMIM:253250
Mckusick-Kaufman Syndrome	Congenital hip dislocation, Pulmonary hypoplasia, Hydroureter, Edema, Hydrometrocolpos, Mesoaxial...	OMIM:236700
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Right ventricular dilatation, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Absent circul...	OMIM:619705
3-Methylglutaconic Aciduria, Type V	3-Methylglutaric aciduria, Dilated cardiomyopathy, Failure to thrive, Congestive heart failure, D...	OMIM:610198
Cardiomyopathy, Dilated, 2A	Dilated cardiomyopathy, Congestive heart failure, Cardiomyocyte hypertrophy, Myofiber disarray, I...	OMIM:611880
Congenital Heart Block	Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block...	ORPHA:60041
Amyotrophic Lateral Sclerosis 28	Rimmed vacuoles, Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb muscle weakness,...	OMIM:620452
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Increased variability in muscle fiber diameter, Neonatal respiratory distress, Skeletal muscle at...	OMIM:616867
Cardiomyopathy, Dilated, 1U	Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac...	OMIM:613694
Muscular Dystrophy, Congenital, 1B	Sternocleidomastoid amyotrophy, Muscular dystrophy, Shoulder girdle muscle weakness, Pectoralis a...	OMIM:604801
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Palpitations, Premature ventricular contraction, Ventricular tachycardia, Left bundle branch bloc...	OMIM:618920
Microphthalmia, Syndromic 12	Hypoplastic left atrium, Congenital diaphragmatic hernia, Cryptorchidism, Ventricular septal defe...	OMIM:615524
Cardiomyopathy, Familial Hypertrophic, 27	Impaired myocardial contractility, Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concen...	OMIM:618052
Ring Chromosome Y Syndrome	Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ...	ORPHA:261529
Nephronophthisis 2	Nephronophthisis, Hyperechogenic kidneys, Oligohydramnios, Situs inversus totalis, Stage 5 chroni...	OMIM:602088
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Hypertrophic cardiomyopathy, Hepatomegaly	ORPHA:79281
Cirrhotic Cardiomyopathy	Pulmonary edema, Arrhythmia, Cirrhosis, Elevated jugular venous pressure, Fourth heart sound, Jau...	ORPHA:57777
Cardiac Lipidosis, Familial	Death in infancy, Cardiomyopathy, Congestive heart failure	OMIM:212080
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Hypertrophic cardiomyopathy, Apnea, Death in infancy, Ventricular septal defect, Dystonia, Respir...	OMIM:616277
Congenital Muscular Dystrophy With Intellectual Disability	Abnormality of the tongue muscle, Respiratory insufficiency, Reduced muscle fiber alpha dystrogly...	ORPHA:370968
Congenital Disorder Of Glycosylation, Type Ik	Cardiomyopathy, Hypogonadism, Intrauterine growth retardation, Splenomegaly, Death in infancy, No...	OMIM:608540
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Dilated cardiomyopathy, Ragged-red muscle fibers, Myopathy, Weakness of facial musculature, Respi...	ORPHA:352447
Bardet-Biedl Syndrome 5	Hypogonadism, External genital hypoplasia, Polydactyly, Brachydactyly, Micropenis, Syndactyly	OMIM:615983
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Cone-shaped epiphysis, Hydrometrocolpos, Atrioventricular canal defect, Horseshoe kidney, Polyhyd...	OMIM:617088
Atrial Septal Defect, Ostium Secundum Type	Mitral regurgitation, Abnormal mitral valve morphology, Arrhythmia, Right atrial enlargement, Ped...	ORPHA:99103
Cardiomyopathy, Dilated, 1L	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Inc...	OMIM:606685
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Myofiber disarray, Pulmonary edema, Left bundle branch block, Hepatomega...	OMIM:115197
Bardet-Biedl Syndrome 11	Hypogonadism, Obesity	OMIM:615988
Diaphragmatic Hernia 5, X-Linked	Neonatal death	OMIM:306950
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Intrauterine growth retardation, Clinodactyly of the 5th finger, Patent foramen ovale, Ventricula...	OMIM:620113
Cardiomyopathy, Familial Hypertrophic, 15	Apical hypertrophic cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, Hypertrophic...	OMIM:613255
Intermediate Nemaline Myopathy	Nemaline bodies, Skeletal muscle atrophy, Abnormal thorax morphology, Facial diplegia, Type 1 mus...	ORPHA:171433
Placental Insufficiency	Abnormal umbilical cord blood vessel morphology, Small placenta, Intrauterine growth retardation,...	ORPHA:439167
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Pneumonia, Right ventricular hypertrophy, Right ventricular dilatation	OMIM:253700
Perching Syndrome	Respiratory distress, Cyanosis, Joint contracture, Camptodactyly, Dysphagia	OMIM:617055
Vacterl Association With Hydrocephalus	Absent thumb, Respiratory insufficiency, Radial club hand, Abnormal heart morphology, Stillbirth,...	OMIM:276950
Microcephaly 20, Primary, Autosomal Recessive	Renal hypoplasia, Bilateral renal agenesis, Hyperechogenic kidneys, Ureteral agenesis, Intrauteri...	OMIM:617914
Oocyte/Zygote/Embryo Maturation Arrest 8	Abnormality of the menstrual cycle, Zygotic cleavage failure, Female infertility, Abnormal circul...	OMIM:619009
Chromosome 6Q24-Q25 Deletion Syndrome	Small hand, Prominent fingertip pads, Sandal gap, Tricuspid regurgitation, Intrauterine growth re...	OMIM:612863
Epidermolysis Bullosa With Diaphragmatic Hernia	Neonatal death	OMIM:226735
Bardet-Biedl Syndrome 16	Bronchiolitis, Renal agenesis, Hypogonadism, External genital hypoplasia, Obesity, Renal insuffic...	OMIM:615993
Glycogen Storage Disease Of Heart, Lethal Congenital	Biventricular hypertrophy, Pulmonary edema, Breech presentation, Ventricular fibrillation, Increa...	OMIM:261740
Vaginal Atresia	Imperforate hymen, Uterus didelphys, Abnormality of the uterus, Vaginal hematocele, Transverse va...	ORPHA:65681
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Narrow chest, Thoracic dysplasia, Respiratory insufficiency, Bell-shaped thorax, Horizontal ribs,...	OMIM:615633
Congenital Toxoplasmosis	Elevated circulating hepatic transaminase concentration, Ascites, Failure to thrive in infancy, I...	ORPHA:858
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Unilateral renal agenesis, Parathyroid hypoplasia, Uterus didelphys, Abnormal heart morphology, S...	ORPHA:2237
Familial Atrial Myxoma	Pulmonic valve myxoma, Bacterial endocarditis, Congestive heart failure, Cholestasis, Ascites, Tr...	ORPHA:615
Congenitally Uncorrected Transposition Of The Great Arteries	Biventricular hypertrophy, Abnormal mitral valve morphology, Abnormal ventriculoarterial connecti...	ORPHA:860
Kaposiform Lymphangiomatosis	Epidural hemorrhage, Epistaxis, Abnormal lung morphology, Subconjunctival hemorrhage, Fractures o...	ORPHA:464329
Syndactyly Type 4	Toe syndactyly, Limitation of joint mobility, Short tibia, Camptodactyly of finger, Hand polydact...	ORPHA:93405
Diffuse Neonatal Hemangiomatosis	Abnormal vagina morphology, Ascites, Polyhydramnios, Renal insufficiency, Renal hypoplasia/aplasi...	ORPHA:2123
Congenital Pulmonary Lymphangiectasia	Congestive heart failure, Ascites, Tricuspid regurgitation, Pleural effusion, Splenomegaly, Pulmo...	ORPHA:2414
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Dilated cardiomyopathy, Respiratory distress, Myopathy, Type 1 fibers relatively smaller than typ...	OMIM:300580
Left Ventricular Noncompaction 1	Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula...	OMIM:604169
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscle fiber splitting, Quadrice...	OMIM:603689
Morbid Obesity And Spermatogenic Failure	Congestive heart failure, Azoospermia, Obesity, Type II diabetes mellitus, Hepatic steatosis, Oli...	OMIM:615703
Immunodeficiency 95	Recurrent respiratory infections, Recurrent viral upper respiratory tract infections, Respiratory...	OMIM:619773
Uterine Anomalies	Bicornuate uterus, Abnormality of the uterus	OMIM:192000
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related	Muscular dystrophy, Respiratory failure, Death in infancy, Respiratory insufficiency	OMIM:613869
Bardet-Biedl Syndrome 2	Dilated cardiomyopathy, Hypogonadism, Obesity, External genital hypoplasia, Bicuspid aortic valve...	OMIM:615981
Carnitine Deficiency, Systemic Primary	Failure to thrive, Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Elevate...	OMIM:212140
Renal, Genital, And Middle Ear Anomalies	Vaginal atresia	OMIM:267400
Long-Olsen-Distelmaier Syndrome	Premature rupture of membranes, Dilated cardiomyopathy, Secundum atrial septal defect, Failure to...	OMIM:620609
Cardiomyopathy, Dilated, 1Ee	Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventricular en...	OMIM:613252
Combined Oxidative Phosphorylation Deficiency 17	Failure to thrive, Congestive heart failure, Hypertrophic cardiomyopathy, Intrauterine growth ret...	OMIM:615440
Congenital Tricuspid Valve Dysplasia	Respiratory failure requiring assisted ventilation, Abnormal tricuspid valve annulus morphology, ...	ORPHA:555874
Congenital Generalized Lipodystrophy	Clitoral hypertrophy, Precocious puberty in females, Failure to thrive, Overgrowth of external ge...	ORPHA:528
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Decreased serum estradiol, Male hypogonadism, Skeletal muscle atrophy, Abnormal vagina morphology...	ORPHA:168563
Cardiomyopathy, Dilated, 1J	Abnormal left ventricular function, Dilated cardiomyopathy, Sudden cardiac death, Congestive hear...	OMIM:605362
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers	Dilated cardiomyopathy, Congestive heart failure, Elbow flexion contracture, Abnormality of the s...	ORPHA:206546
Loeffler Endocarditis	Aortic valve stenosis, Restrictive cardiomyopathy, Mitral regurgitation, Arrhythmia, Weight loss,...	ORPHA:75566
Oocyte/Zygote/Embryo Maturation Arrest 9	Abnormality of the menstrual cycle, Zygotic cleavage failure, Oocyte arrest at metaphase I, Femal...	OMIM:619011
Acropectoral Syndrome	Pectus carinatum, Preaxial polydactyly, Partial duplication of thumb phalanx, Triphalangeal thumb...	OMIM:605967
Wild Type Attr Amyloidosis	Aortic valve stenosis, Nephropathy, Nephrotic syndrome, Congestive heart failure, Hypertrophic ca...	ORPHA:330001
Syndromic X-Linked Intellectual Disability 7	Hypogonadism, Obesity, Cryptorchidism, Micropenis, Hypoplasia of penis	ORPHA:85274
Renal Hypodysplasia/Aplasia 4	Respiratory failure, Pulmonary hypoplasia	OMIM:619887
Babesiosis	Hepatic failure, Congestive heart failure, Leukopenia, Renal insufficiency, Splenomegaly, Clinoda...	ORPHA:108
Marshall-Smith Syndrome	Hypoplasia of the odontoid process, Aspiration pneumonia, Death in childhood, Ventricular septal ...	OMIM:602535
Isolated Right Ventricular Hypoplasia	Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le...	ORPHA:439
Congenital Myopathy 8	Cardiomegaly, Congestive heart failure	OMIM:618654
Cardiomyopathy, Dilated, 1V	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Lef...	OMIM:613697
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly, Macroorchidism, Congestive heart failure	OMIM:300886
Cardiomyopathy, Dilated, 1Dd	Left ventricular systolic dysfunction, Dilated cardiomyopathy, Sudden cardiac death, Congestive h...	OMIM:613172
Neurogenic Arthrogryposis Multiplex Congenita	Ankle flexion contracture, Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb muscle...	ORPHA:1143
Tarp Syndrome	Finger syndactyly, Clinodactyly, Hypoplasia of proximal radius, Tetralogy of Fallot, Intrauterine...	ORPHA:2886
Krabbe Disease, Atypical, Due To Saposin A Deficiency	Respiratory failure, Death in infancy, Respiratory insufficiency	OMIM:611722
Bardet-Biedl Syndrome 10	Hypogonadism, Obesity, Renal insufficiency, Polydactyly, Renal cyst	OMIM:615987
Gillessen-Kaesbach-Nishimura Syndrome	Periportal fibrosis, Thickened nuchal skin fold, Abnormal lung lobation, Abnormal heart morpholog...	OMIM:263210
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	Left bundle branch block, Ventricular tachycardia, First degree atrioventricular block, Right ven...	OMIM:615616
Cardiomyopathy, Dilated, 1Kk	Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Mitral regurgitati...	OMIM:615248
Severe Congenital Nemaline Myopathy	Thin ribs, Nemaline bodies, Arthrogryposis multiplex congenita, Abnormality of the diaphragm, Ske...	ORPHA:171430
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection...	OMIM:613251
Jawad Syndrome	Thoracic scoliosis, Postaxial polydactyly, 4-5 toe syndactyly, Hallux valgus, Absent fourth finge...	OMIM:251255
Heterotaxy, Visceral, 1, X-Linked	Ventricular septal defect, Bilateral trilobed lung, Atrial septal defect, Dextrocardia, Single ve...	OMIM:306955
Hb Bart'S Hydrops Fetalis	Congestive heart failure, Oligohydramnios, Polyhydramnios, Splenomegaly, Abnormal hemoglobin, Ane...	ORPHA:163596
Mucolipidosis Ii Alpha/Beta	Bullet-shaped phalanges of the hand, Hypoplastic scapulae, Myelopathy, Mitral regurgitation, Deat...	OMIM:252500
Mitochondrial Complex I Deficiency, Nuclear Type 11	Failure to thrive, Congestive heart failure, Hypertrophic cardiomyopathy, Wolff-Parkinson-White s...	OMIM:618234
Pparg-Related Familial Partial Lipodystrophy	Insulin-resistant diabetes mellitus, Congestive heart failure, Hypertrophic cardiomyopathy, Splen...	ORPHA:79083
Oocyte/Zygote/Embryo Maturation Arrest 21	Zygotic cleavage failure, Female infertility	OMIM:620610
Oocyte/Zygote/Embryo Maturation Arrest 13	Repeated implantation failure, Female infertility	OMIM:620154
Interstitial Pneumonitis, Desquamative, Familial	Cor pulmonale, Respiratory distress, Cyanosis, Tachypnea, Respiratory failure	OMIM:263000
Cardiomyopathy, Dilated, 1Gg	Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure, Left ventricular noncompacti...	OMIM:613642
Oocyte/Zygote/Embryo Maturation Arrest 12	Abnormal preimplantation embryonic development, Female infertility	OMIM:619697
Prune Belly Syndrome	Multicystic kidney dysplasia, Abnormality of the ureter, Decreased fertility, Cryptorchidism, Ven...	ORPHA:2970
Silver-Russell Syndrome Due To A Point Mutation	Short 5th finger, Bifid scrotum, Microphallus, Ectrodactyly, Small placenta, Intrauterine growth ...	ORPHA:397590
Sensorineural Deafness With Dilated Cardiomyopathy	Dilated cardiomyopathy, Abnormal cardiac ventricular function, Congestive heart failure	ORPHA:217622
Combined Oxidative Phosphorylation Deficiency 23	Dilated cardiomyopathy, Failure to thrive, Congestive heart failure, Hypertrophic cardiomyopathy,...	OMIM:616198
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Respiratory distress, Myopathy, Cyanosis, Hypertrophic cardiomyopathy	ORPHA:91130
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Umbilical hernia, Intrauterine growth retardation, Overlapping toe, Large placenta, Polyhydramnio...	ORPHA:254528
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Congenital hip dislocation, Hip dislocation, Hand clenching, Skeletal muscle atrophy, Overlapping...	OMIM:618291
Cardiac-Urogenital Syndrome	Biventricular hypertrophy, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Dextr...	OMIM:618280
Orofaciodigital Syndrome Iii	Short sternum, Postaxial foot polydactyly, Pectus excavatum, Postaxial hand polydactyly	OMIM:258850
Cardiomyopathy, Dilated, 1P	Ventricular arrhythmia, Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure	OMIM:609909
Pontocerebellar Hypoplasia, Type 4	Congenital contracture, Respiratory failure, Death in infancy	OMIM:225753
Female Infertility Due To Oocyte Meiotic Arrest	Abnormal meiosis, Female infertility, Oocyte arrest at metaphase I	ORPHA:488191
Surfactant Metabolism Dysfunction, Pulmonary, 3	Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv...	OMIM:610921
Diaphanospondylodysostosis	Pulmonary hypoplasia, Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Intrauterine growt...	OMIM:608022
Stuve-Wiedemann Syndrome 2	Congestive heart failure, Intrauterine growth retardation, Neonatal death, Bowing of the long bon...	OMIM:619751
Restrictive Dermopathy 1	Neonatal death, Atrial septal defect, Hypospadias, Premature rupture of membranes, Spontaneous ch...	OMIM:275210
Hydatidiform Mole, Recurrent, 3	Female infertility, Hydatidiform mole	OMIM:618431
Hydatidiform Mole, Recurrent, 4	Female infertility, Hydatidiform mole	OMIM:618432
Cardiomyopathy, Dilated, 1Hh	Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure	OMIM:613881
Polydactyly, Preaxial Iv	Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb...	OMIM:174700
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Bifid sternum, Supraumbilical raphe	OMIM:140850
Double Uterus-Hemivagina-Renal Agenesis Syndrome	Hydrocolpos, Uterus didelphys, Metrorrhagia, Dysmenorrhea, Breech presentation, Dyspareunia, Abno...	ORPHA:3411
Immunodeficiency 54	Chromosome breakage, Respiratory insufficiency, Intrauterine growth retardation, Splenomegaly, He...	OMIM:609981
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Upper limb muscle weakness, Lower limb muscle weakness, Tremor, Dyspnea, Dysphagia, Respiratory f...	ORPHA:90117
Congenital Disorder Of Glycosylation, Type Ih	Failure to thrive, Decreased liver function, Cholestasis, Decreased circulating T4 concentration,...	OMIM:608104
Atrial Septal Defect, Coronary Sinus Type	Pneumonia, Right ventricular failure, Bundle branch block, Presyncope, Transient ischemic attack,...	ORPHA:99104
Combined Oxidative Phosphorylation Deficiency 51	Intrauterine growth retardation, Respiratory failure, Neonatal respiratory distress, Aspiration p...	OMIM:619057
Scarf Syndrome	Pectus carinatum, Diastasis recti, Joint hypermobility, Short sternum, Craniosynostosis	ORPHA:3134
H Syndrome	Bronchiectasis, Histiocytosis, Hypogonadism, Decreased testicular size, Azoospermia, Hepatospleno...	ORPHA:168569
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Pulmonary hypoplasia, Flared metaphysis, Hypertrophic cardiomyopathy, Decreased fibular diameter,...	OMIM:616897
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Congestive heart failure, Hypertension, Left ventricular hypertrophy, Arrhythmia, Wolff-Parkinson...	OMIM:540000
Santos Syndrome	Preaxial polydactyly, Oligodactyly, Genu valgum, Polydactyly, Postaxial polydactyly, Talipes equi...	OMIM:613005
Interatrial Communication	Right ventricular dilatation, Secundum atrial septal defect, Atrial flutter, Congestive heart fai...	ORPHA:1478
Fixed Subaortic Stenosis	Aortic regurgitation, Bacterial endocarditis, Congestive heart failure, Abnormal heart morphology...	ORPHA:3092
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Generalized dystonia, Hypertrophic cardiomyopathy, Abnormal heart morphology, Abnormal reproducti...	ORPHA:70472
Hand-Foot-Genital Syndrome	Short distal phalanx of finger, Shortening of all middle phalanges of the fingers, Synostosis of ...	ORPHA:2438
Cardiomyopathy, Dilated, 1B	Impaired myocardial contractility, Ventricular arrhythmia, Dilated cardiomyopathy, Congestive hea...	OMIM:600884
Alpha-Thalassemia	Generalized edema, Cholelithiasis, Extramedullary hematopoiesis, Congestive heart failure, Microc...	ORPHA:846
Glycine Encephalopathy 2	Respiratory failure	OMIM:620398
Familial Isolated Dilated Cardiomyopathy	Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic dysfunction, Arrhythm...	ORPHA:154
Peroxisome Biogenesis Disorder 8A (Zellweger)	Elevated circulating aspartate aminotransferase concentration, Epiphyseal stippling, Death in inf...	OMIM:614876
Denys-Drash Syndrome	Nephropathy, Focal segmental glomerulosclerosis, Ovarian gonadoblastoma, Uterus didelphys, Gonada...	OMIM:194080
Tricuspid Atresia	Hypoplasia of right ventricle, Cyanosis, Patent foramen ovale, Ventricular septal defect, Transpo...	ORPHA:1209
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Congestive heart fail...	ORPHA:75564
Endocrine-Cerebroosteodysplasia	Small scrotum, Fibular bowing, Cryptorchidism, Talipes equinovarus, Bowed forearm bones, Hypospad...	OMIM:612651
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Pulmonary cyst, Umbilical hernia, Large for gestational age, Nephroblastoma, Enlarged kidney	OMIM:618272
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Hepatic failure, Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration,...	ORPHA:367
Microphthalmia, Syndromic 9	Cryptorchidism, Ventricular septal defect, Neonatal death, Atrial septal defect, Single ventricle...	OMIM:601186
Lethal Osteosclerotic Bone Dysplasia	Intrauterine growth retardation, Micrognathia, Respiratory failure, Mandibular aplasia	ORPHA:1832
Momo Syndrome	Femoral bowing, Short sternum, Large hands, Abnormal bone ossification, Congenital pseudoarthrosi...	ORPHA:2563
Attrv122I Amyloidosis	Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti...	ORPHA:85451
Left Ventricular Noncompaction 10	Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Syncope, Pulmon...	OMIM:615396
Asbestos Intoxication	Cor pulmonale, Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular septal thick...	ORPHA:2302
Neuropathy, Congenital Hypomyelinating, 3	Hand clenching, Respiratory insufficiency, Micrognathia, Facial diplegia, Neonatal death, 2-3 toe...	OMIM:618186
Carvajal Syndrome	Patchy palmoplantar hyperkeratosis, Dilated cardiomyopathy, Congestive heart failure	ORPHA:65282
Orofaciodigital Syndrome Type 3	Postaxial foot polydactyly, Short sternum, Postaxial hand polydactyly, Pectus excavatum, Thoracic...	ORPHA:2752
Congenital Multicore Myopathy With External Ophthalmoplegia	Small scrotum, Increased variability in muscle fiber diameter, Cryptorchidism, Rectus femoris mus...	ORPHA:98905
Cardiomyopathy, Dilated, 1Z	Dilated cardiomyopathy, Sudden cardiac death, Congestive heart failure	OMIM:611879
Surfactant Metabolism Dysfunction, Pulmonary, 1	Neonatal respiratory distress, Absent bronchoalveolar dimeric surfactant-protein B, Intraalveolar...	OMIM:265120
Mitochondrial Complex I Deficiency, Nuclear Type 30	Intrauterine growth retardation, Congestive heart failure, Premature birth, Neonatal death	OMIM:301021
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Skeletal muscle atrophy, Respiratory insufficiency, Respiratory distress, Myopathy, Weakness of f...	ORPHA:254875
Cardiomyopathy, Familial Hypertrophic, 8	Restrictive cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Hypertrophic cardiomy...	OMIM:608751
Turnpenny-Fry Syndrome	Small hand, Clinodactyly, Overlapping toe, Mitral valve prolapse, Atrial septal defect, Torticoll...	OMIM:618371
Cornelia De Lange Syndrome 1	Pneumonia, Finger aplasia, Micromelia, Elbow flexion contracture, Hypoplastic radial head, Intrau...	OMIM:122470
Familial Partial Lipodystrophy, Dunnigan Type	Congestive heart failure, Hypertrophic cardiomyopathy, Splenomegaly, Hepatic steatosis, Polycysti...	ORPHA:2348
Premature Ovarian Failure 6	Elevated circulating luteinizing hormone level, Female infertility, Streak ovary, Elevated circul...	OMIM:612310
Fraser Syndrome 1	Clitoral hypertrophy, Pulmonary hypoplasia, Renal hypoplasia, Abnormal heart morphology, Myelomen...	OMIM:219000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Shoulder girdle muscle atrophy, Muscular dystrophy, Macroglossia, Skeletal muscle atrophy, Elbow ...	OMIM:606612
Ogden Syndrome	Torsade de pointes, Cryptorchidism, Ventricular septal defect, Pulmonary edema, Bicuspid aortic v...	OMIM:300855
Autosomal Dominant Polycystic Kidney Disease	Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec...	ORPHA:730
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
Premature Ovarian Failure 2B	Premature ovarian insufficiency, Female infertility, Delayed puberty, Primary amenorrhea	OMIM:300604
Carpenter Syndrome	Toe syndactyly, Broad thumb, Finger syndactyly, Preaxial foot polydactyly, External genital hypop...	ORPHA:65759
Left Ventricular Noncompaction 8	Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Left ventricula...	OMIM:615373
Postsynaptic Congenital Myasthenic Syndromes	Skeletal muscle atrophy, Upper limb muscle weakness, Hip flexor weakness, Shoulder girdle muscle ...	ORPHA:98913
Oocyte/Zygote/Embryo Maturation Arrest 14	Female infertility, Oocyte maturation arrest	OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5	Female infertility, Lack of oocyte pronucleus formation	OMIM:617996
Maternal Uniparental Disomy Of Chromosome X	Predominantly lower limb lymphedema, Hepatic failure, Rocker bottom foot, Camptodactyly of finger...	ORPHA:261519
Congenital Fibrinogen Deficiency	Bruising susceptibility, Hemorrhagic ovarian cyst, Decreased testicular size, Subcutaneous hemorr...	ORPHA:335
Renal Dysplasia	Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure...	ORPHA:93108
Bronchopulmonary Dysplasia	Respiratory distress, Respiratory failure requiring assisted ventilation, Central apnea, Hyperoxe...	ORPHA:70589
Ciliary Dyskinesia, Primary, 5	Recurrent pneumonia, Neonatal respiratory distress, Situs inversus totalis, Recurrent sinusitis, ...	OMIM:608647
Congenital Gerbode Defect	Bacterial endocarditis, Elevated right atrial pressure, Pedal edema, Right ventricular failure, H...	ORPHA:99095
Restrictive Dermopathy	Pulmonary hypoplasia, Camptodactyly of finger, Small placenta, Intrauterine growth retardation, L...	ORPHA:1662
Ovarian Dysgenesis 9	Decreased serum estradiol, Elevated circulating luteinizing hormone level, Hypoplasia of the ovar...	OMIM:619665
Dietary Iron Overload Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Abnormal thyroid morphology, Increased circulating c...	ORPHA:139507
Scarf Syndrome	Lambdoidal craniosynostosis, Coronal craniosynostosis, Pectus carinatum, Diastasis recti, Barrel-...	OMIM:312830
Attrv30M Amyloidosis	Nephropathy, Atrioventricular block, Cardiomyopathy, Cardiomegaly, Arrhythmia, Weight loss, Impot...	ORPHA:85447
Premature Ovarian Failure 7	Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Elevate...	OMIM:612964
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Joint hypermobility, Arachnodactyly, Missing ribs, Long palm, Abnormal rib morphology, Clinodacty...	ORPHA:2759
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type	Obesity, Cryptorchidism	OMIM:309585
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Respiratory distress, Limb muscle weakness, Myopathy, Type 2 muscle fiber atrophy, Respiratory in...	OMIM:605809
Diethylstilbestrol Syndrome	Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular...	ORPHA:1916
Premature Ovarian Failure 13	Female infertility, Amenorrhea, Elevated circulating follicle stimulating hormone level, Oligomen...	OMIM:617442
Thiamine-Responsive Megaloblastic Anemia Syndrome	Congestive heart failure, Ventricular septal defect, Paroxysmal atrial tachycardia, Megaloblastic...	ORPHA:49827
Congenital Myopathy 21 With Early Respiratory Failure	Hypertrophic cardiomyopathy, Intrauterine growth retardation, Lipoid pneumonia, EMG: myopathic ab...	OMIM:620326
Cardiomyopathy, Dilated, 1Bb	Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac...	OMIM:612877
Cardiomyopathy, Dilated, 1K	Dilated cardiomyopathy, Gallop rhythm, Congestive heart failure	OMIM:605582
Schinzel-Giedion Midface Retraction Syndrome	Short distal phalanx of finger, Increased density of long bones, Short 1st metacarpal, Wide dista...	OMIM:269150
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu...	ORPHA:86812
Hereditary Butyrylcholinesterase Deficiency	Respiratory failure, Respiratory failure requiring assisted ventilation	ORPHA:132
Hand-Foot-Genital Syndrome	Ulnar deviation of the 2nd finger, Chordee, Short hallux, Small thenar eminence, Hypospadias, Sho...	OMIM:140000
Hyperprolactinemia	Menorrhagia, Oligomenorrhea, Female infertility, Increased circulating prolactin concentration	OMIM:615555
Complete Atrioventricular Septal Defect	Abnormal atrioventricular valve physiology, Abnormal cardiac atrium morphology, Elevated jugular ...	ORPHA:1329
Pediatric-Onset Graves Disease	Hepatomegaly, Jaundice, Increased circulating T4 concentration, Graves disease, Goiter, Palpitati...	ORPHA:525731
Bardet-Biedl Syndrome 4	Hypogonadism, External genital hypoplasia, Obesity, Cryptorchidism, Polydactyly, Renal cyst, Brac...	OMIM:615982
Neuraminidase Deficiency	Facial edema, Cardiomyopathy, Urinary excretion of sialylated oligosaccharides, Ascites, Epiphyse...	OMIM:256550
Myasthenic Syndrome, Congenital, 6, Presynaptic	Respiratory distress, Type 2 muscle fiber atrophy, Dysphagia, Respiratory insufficiency due to mu...	OMIM:254210
Beckwith-Wiedemann Syndrome	Nephrocalcinosis, Pancreatic hyperplasia, Cardiomyopathy, Overgrowth of external genitalia, Adren...	OMIM:130650
Chronic Thromboembolic Pulmonary Hypertension	Right ventricular failure, Pulmonary embolism, Congestive heart failure, Abnormal T-wave, Obesity...	ORPHA:70591
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Aortic valve stenosis, Atrial flutter, Congestive heart failure, Tricuspid regurgitation, Abnorma...	ORPHA:324410
Cednik Syndrome	Congestive heart failure, Hypogonadism, Diffuse palmoplantar hyperkeratosis, Proteinuria, Nephrot...	ORPHA:66631
Ulbright-Hodes Syndrome	Thin ribs, Abnormal forearm bone morphology, Abnormal rib morphology, Fibular aplasia, Micrognath...	ORPHA:3404
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28	Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus...	OMIM:620375
Bardet-Biedl Syndrome 14	Polydactyly	OMIM:615991
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome	Right ventricular dilatation	ORPHA:369847
Proximal Spinal Muscular Atrophy	Neonatal respiratory distress, Hip dislocation, Skeletal muscle atrophy, Quadriceps muscle weakne...	ORPHA:70
Camptobrachydactyly	Ulnar deviation of finger, Toe syndactyly, Finger syndactyly, Camptodactyly of finger, Septate va...	ORPHA:1319
Autoinflammatory Disease, Familial, Behcet-Like 3	Vaginal mucosal ulceration	OMIM:618287
Gm1-Gangliosidosis, Type I	Dilated cardiomyopathy, Abnormality of the urinary system, Congestive heart failure, Hypertrophic...	OMIM:230500
Maturity-Onset Diabetes Of The Young, Type 11	Obesity, Overweight	OMIM:613375
Ovarian Dysgenesis 7	Decreased serum estradiol, Elevated circulating luteinizing hormone level, Delayed puberty, Eleva...	OMIM:618117
Hereditary Amyloidosis With Primary Renal Involvement	Nephropathy, Abnormal urinary electrolyte concentration, Hepatosplenomegaly, Weight loss, Tubuloi...	ORPHA:85450
Premature Ovarian Failure 19	Irregular menstruation, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea	OMIM:619245
Transaldolase Deficiency	Biventricular hypertrophy, Hepatosplenomegaly, Telangiectasia, Cirrhosis, Atrial septal defect, A...	ORPHA:101028
Coffin-Lowry Syndrome	Pectus carinatum, Bifid sternum, Uterine prolapse, Single transverse palmar crease, Tapered finge...	OMIM:303600
Heart-Hand Syndrome Type 2	Asymmetry of the thorax, Aplasia/Hypoplasia of the radius, Abnormal clavicle morphology, Micromel...	ORPHA:1350
Ceroid Lipofuscinosis, Neuronal, 10	Neonatal death, Split hand, Respiratory failure, Respiratory insufficiency	OMIM:610127
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Cone-shaped epiphysis, Metaphyseal spurs, Renal dysplasia, Preaxial polydactyly, Acetabular spurs...	OMIM:613091
Fabry Disease	Lipiduria, Congestive heart failure, Lymphedema, Transient ischemic attack, Renal insufficiency, ...	OMIM:301500
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Hypertrophic cardiomyopathy, Intrauterine growth retardation, Obesity	OMIM:620270
Bardet-Biedl Syndrome 13	Polydactyly	OMIM:615990
Cardiomyopathy, Familial Hypertrophic, 1	Asymmetric septal hypertrophy, Arrhythmia, Subvalvular aortic stenosis, Congestive heart failure	OMIM:192600
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	Scapular winging, Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure	OMIM:608099
Developmental And Epileptic Encephalopathy 71	Respiratory failure, Respiratory insufficiency	OMIM:618328
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Uterus didelphys, Micromelia, Abnormality of the wrist, Short humerus, Aplasia/Hypoplasia of the ...	ORPHA:2491
Brain-Lung-Thyroid Syndrome	Abnormal eating behavior, Ventricular septal defect, Atrial septal defect, Hypoparathyroidism, Hy...	ORPHA:209905
Combined Oxidative Phosphorylation Deficiency 10	Failure to thrive, Hypertrophic cardiomyopathy, Ascites, Intrauterine growth retardation, Oligohy...	OMIM:614702
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Respiratory distress, Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Respiratory insuffic...	OMIM:613561
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome	Hypogonadism, Obesity, Decreased fertility, Mitral valve prolapse, Abnormal testis morphology	ORPHA:2233
Timothy Syndrome	Pneumonia, Atrioventricular block, Bronchitis, Tetralogy of Fallot, Patent foramen ovale, Ventric...	OMIM:601005
Simpson-Golabi-Behmel Syndrome, Type 1	Broad thumb, Congenital diaphragmatic hernia, Ventricular septal defect, Talipes equinovarus, 2-3...	OMIM:312870
Congenital Heart Defects, Multiple Types, 2	Aortic valve stenosis, Aortic regurgitation, Myxomatous mitral valve degeneration, Congestive hea...	OMIM:614980
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Clitoral hypertrophy, Toe syndactyly, Valvular pulmonary stenosis, Bicuspid aortic valve, Atrial ...	OMIM:300707
Polymyositis	Vasculitis, Gastrointestinal hemorrhage, Dilated cardiomyopathy, Abnormal atrioventricular conduc...	ORPHA:732
Severe X-Linked Mitochondrial Encephalomyopathy	Respiratory distress, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Re...	ORPHA:238329
Craniofaciofrontodigital Syndrome	Aortic valve stenosis, Mitral regurgitation, Ventricular septal defect, Bicuspid aortic valve, Ar...	ORPHA:363705
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Elevated circulating hepatic transaminase concentration, Failure to thrive in infancy, Death in c...	OMIM:619064
Ovarian Dysgenesis 2	Streak ovary, Delayed puberty, Primary amenorrhea, Premature ovarian insufficiency, Hypoplasia of...	OMIM:300510
Meckel Syndrome 14	Hepatic fibrosis, Pulmonary hypoplasia, Postaxial foot polydactyly, Occipital encephalocele, Tric...	OMIM:619879
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Decreased serum estradiol, Decreased circulating gonadotropin concentration, Decreased serum test...	OMIM:614841
Primary Ciliary Dyskinesia	Neonatal respiratory distress, Atelectasis, Atrial situs ambiguous, Abnormal heart morphology, Ab...	ORPHA:244
Ulnar Hemimelia	Abnormal upper limb bone morphology, Hypoplastic scapulae, Short forearm, Radial bowing, Abnormal...	ORPHA:93320
Arterial Calcification, Generalized, Of Infancy, 2	Nephrocalcinosis, Cardiogenic shock, Sinus tachycardia, Congestive heart failure, Tricuspid regur...	OMIM:614473
Neu-Laxova Syndrome 1	Joint contracture of the hand, Toe syndactyly, Finger syndactyly, Clinodactyly, Cryptorchidism, V...	OMIM:256520
Surfactant Metabolism Dysfunction, Pulmonary, 2	Recurrent pneumonia, Intralobular septal thickening, Spontaneous pneumothorax, Intraalveolar phos...	OMIM:610913
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Recurrent aspiration pneumonia, Respiratory failure, Lower limb muscle weakness, Respiratory insu...	ORPHA:2590
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Joint contracture of the hand, Congenital hip dislocation, Elevated circ...	OMIM:300280
Combined Oxidative Phosphorylation Deficiency 52	Hypertrophic cardiomyopathy, Adrenal insufficiency, Death in infancy, Anorexia, Respiratory failure	OMIM:619386
Polycystic Ovary Syndrome 1	Enlarged polycystic ovaries, Amenorrhea, Obesity, Oligomenorrhea	OMIM:184700
Atrial Standstill	Atrial standstill, Abnormal P wave, Cardiomyopathy, Congestive heart failure, Left ventricular no...	ORPHA:1344
Lethal Acantholytic Erosive Disorder	Cardiomyopathy, Intrauterine growth retardation, Camptodactyly of toe, Cardiomegaly, 2-3 finger s...	ORPHA:158687
Complete Androgen Insensitivity Syndrome	Elevated circulating luteinizing hormone level, Abnormal morphology of female internal genitalia,...	ORPHA:99429
Congenital Myopathy 10B, Mild Variant	Minicore myopathy, Increased variability in muscle fiber diameter, Recurrent pneumonia, Rimmed va...	OMIM:620249
Lymphoid Interstitial Pneumonia	Bronchiectasis, Failure to thrive, Subpleural interstitial thickening, Pulmonary venous hypertens...	ORPHA:79128
Johanson-Blizzard Syndrome	Abnormal vagina morphology, Edema, Failure to thrive, Exocrine pancreatic insufficiency, Intraute...	ORPHA:2315
Cardiomyopathy, Familial Hypertrophic, 11	Left anterior fascicular block, Atrial flutter, Subaortic ventricular septal bulge, Hypertrophic ...	OMIM:612098
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Distal amyotrophy, Denervation of the diaphragm, Camptodactyly of finger, Intrauterine growth ret...	OMIM:604320
Acro-Renal-Mandibular Syndrome	Thin ribs, Pectus carinatum, Hypoplastic scapulae, Abnormal clavicle morphology, Uterus didelphys...	ORPHA:958
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Hepatosplenomegaly, Urinary glycosaminoglycan excretion, Heavy proteinuria, Mitral regurgitation,...	ORPHA:505248
Bardet-Biedl Syndrome 8	Hypogonadism, Obesity, Situs inversus totalis, Hypospadias	OMIM:615985
Hereditary Motor And Sensory Neuropathy, Type Iic	Shoulder girdle muscle atrophy, Proximal muscle weakness in upper limbs, Distal upper limb muscle...	OMIM:606071
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Neonatal respiratory distress, Skeletal muscle atrophy, Respiratory insufficiency, Intrauterine g...	OMIM:245400
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Cardiomyopathy	OMIM:609016
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Delayed epiphyseal ossification, Narrow chest, Metaphyseal cupping, Micromelia, Wide distal femor...	OMIM:613320
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Respiratory distress, Increased muscle lipid content, Ragged-red muscle fibers, Myopathy, Ventila...	ORPHA:254864
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Dysphagia, Respiratory failure, Tremor, Weakness of facial musculature	OMIM:618637
Tyrosinemia, Type I	Acute hepatic failure, Cirrhosis, Glomerular sclerosis, Hepatomegaly, Gastrointestinal hemorrhage...	OMIM:276700
Bardet-Biedl Syndrome 7	Clinodactyly, Hypogonadism, Polydactyly, Postaxial polydactyly, 2-3 toe syndactyly	OMIM:615984
Short Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Dystonia, Cardiomyopathy, Myopathy	ORPHA:26792
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased fertil...	ORPHA:90793
Partial Androgen Insensitivity Syndrome	Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Increased serum estradiol, ...	ORPHA:90797
Mosaic Trisomy 9	Elbow dislocation, Endocardial fibroelastosis, Cryptorchidism, Ventricular septal defect, Talipes...	ORPHA:99776
Premature Ovarian Failure 18	Irregular menstruation, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, ...	OMIM:619203
Cog7-Cdg	Elevated circulating hepatic transaminase concentration, Failure to thrive, Abnormal heart morpho...	ORPHA:79333
Cantu Syndrome	Congenital hypertrophy of left ventricle, Erlenmeyer flask deformity of the femurs, Broad hallux,...	OMIM:239850
Poland Syndrome	Small hand, Finger syndactyly, Aplasia/Hypoplasia of the sternum, Congenital diaphragmatic hernia...	ORPHA:2911
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hepatic steatosis, Polycystic ovaries, Tubulointerstitial fibrosis, Hepatomegaly, Chronic neutrop...	ORPHA:79259
46,Xy Partial Gonadal Dysgenesis	Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,...	ORPHA:251510
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Unilateral renal agenesis, Preaxial polydactyly, Intrauterine growth retardation, Overlapping toe...	OMIM:618142
Incessant Infant Ventricular Tachycardia	Congestive heart failure, Bundle branch block, Cardiac rhabdomyoma, Prolonged QRS complex, Suprav...	ORPHA:45453
Scedosporiosis	Pneumonia, Bronchitis, Osteomyelitis, Respiratory failure, Arthralgia/arthritis, Septic arthritis...	ORPHA:449280
Fraser Syndrome	Small scrotum, Toe syndactyly, Abnormal vagina morphology, Finger syndactyly, Female pseudohermap...	ORPHA:2052
Gaucher Disease Type 2	Abnormal pattern of respiration, Respiratory distress, Splenomegaly, Dystonia, Hepatomegaly, Flex...	ORPHA:77260
Donnai-Barrow Syndrome	Short sternum, Diaphragmatic eventration, Congenital diaphragmatic hernia, Ventricular septal defect	OMIM:222448
Beta-Thalassemia Intermedia	Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, High-output conges...	ORPHA:231222
Bullous Dystrophy, Hereditary Macular Type	Acrocyanosis, Death in childhood	OMIM:302000
Igg4-Related Kidney Disease	Chronic kidney disease, Arteritis, Abnormal mesentery morphology, Urethritis, Hematuria, Prostati...	ORPHA:449395
Muscular Hypertonia, Lethal	Respiratory distress, Death in infancy, Decreased fetal movement, Umbilical hernia	OMIM:254120
Omphalocele-Cleft Palate Syndrome, Lethal	Bicornuate uterus, Death in infancy	OMIM:258320
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Dilated cardiomyopathy, Sinus tachycardia, Congestive heart failure, Biventricular hypertrophy, H...	OMIM:255160
Erdheim-Chester Disease	Abnormal epiphysis morphology, Congestive heart failure, Abnormal pericardium morphology, Dysuria...	ORPHA:35687
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Decreased adiponectin level, Abnormal atrioventricular conduction, Congestive heart failure, Hype...	ORPHA:280365
Lethal Congenital Contracture Syndrome 2	Dilated cardiomyopathy, Skeletal muscle atrophy, Micrognathia, Ventricular septal defect, Arthrog...	OMIM:607598
Thrombocytopenia-Absent Radius Syndrome	Short forearm, Broad thumb, Dilatation of the renal pelvis, Finger syndactyly, Carpal synostosis,...	OMIM:274000
Combined Oxidative Phosphorylation Deficiency 28	Respiratory failure, Ragged-red muscle fibers	OMIM:616794
Developmental And Epileptic Encephalopathy 30	Respiratory distress, Motor stereotypy, Death in infancy	OMIM:616341
Orofaciodigital Syndrome Xviii	Short distal phalanx of finger, Sandal gap, Preaxial polydactyly, Cervical ribs, Genu valgum, Sin...	OMIM:617927
Mitochondrial Complex I Deficiency, Nuclear Type 20	Hepatic failure, Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration,...	OMIM:611126
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Insulin-resistant diabetes mellitus, Polycystic ovaries, Enlarged polycystic ovaries, Elevated ci...	ORPHA:90301
Myopathy And Diabetes Mellitus	Sternocleidomastoid amyotrophy, Type I diabetes mellitus, Weakness of orbicularis oculi muscle, S...	ORPHA:2596
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome	Nephrocalcinosis, Failure to thrive, Congestive heart failure, Atrial septal defect, Polyhydramni...	ORPHA:500533
Cardiomyopathy, Familial Restrictive, 6	Restrictive cardiomyopathy, Hepatic artery hyperplasia, Ascites, Tricuspid regurgitation, Death i...	OMIM:619433
Donnai-Barrow Syndrome	Abnormality of the uterus, Umbilical hernia, Congenital diaphragmatic hernia, Ventricular septal ...	ORPHA:2143
Combined Oxidative Phosphorylation Defect Type 23	Paroxysmal dyspnea, Hypertrophic cardiomyopathy, Cyanosis, Left ventricular hypertrophy, Respirat...	ORPHA:444013
Congenital Disorder Of Glycosylation, Type Iil	Unilateral renal agenesis, Elevated circulating hepatic transaminase concentration, Proximal tubu...	OMIM:614576
Sandestig-Stefanova Syndrome	Clinodactyly, Muscular ventricular septal defect, Intrauterine growth retardation, Bilateral sing...	OMIM:618804
Myotubular Myopathy With Abnormal Genital Development	Centrally nucleated skeletal muscle fibers, Bifid scrotum, Bilateral cryptorchidism, Respiratory ...	OMIM:300219
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Dilated cardiomyopathy, Respiratory insufficiency, Respiratory distress, Hypertrophic cardiomyopa...	OMIM:614299
Neutropenia, Lethal Congenital, With Eosinophilia	Neonatal death	OMIM:257100
Tetraamelia Syndrome 1	Absent external genitalia, Pulmonary hypoplasia, Renal agenesis, Hypoplastic pelvis, Adrenal glan...	OMIM:273395
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Cryptorchidism, Death in infancy, Neonatal death, Ventricular septal defect, Hepatomegaly, Ectopi...	OMIM:613730
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome	Vaginal fistula, Skeletal muscle atrophy, Myopathy	ORPHA:2597
Ehlers-Danlos Syndrome, Classic-Like, 1	Poor wound healing, Bruising susceptibility, Ambiguous genitalia, female, Quadricuspid aortic val...	OMIM:606408
Ovarian Dysgenesis 5	Decreased serum estradiol, Elevated circulating luteinizing hormone level, Elevated circulating f...	OMIM:617690
Refsum Disease, Classic	Cardiomyopathy, Congestive heart failure, Cardiomegaly, Arrhythmia, Short fourth metatarsal, Abno...	OMIM:266500
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Narrow chest, Uterus didelphys, Short tibia, Preaxial polydactyly, Tetralogy of Fallot, Lateral c...	OMIM:617925
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Multicystic kidney dysplasia, Long hallux, Mitral valve prolapse, Ventricular septal defect, Tali...	ORPHA:500095
Acrocephalopolydactylous Dysplasia	Hepatic fibrosis, Micromelia, Polysplenia, Ascites, Pancreatic fibrosis, Postaxial hand polydacty...	OMIM:200995
Cutis Laxa, Autosomal Recessive, Type Ib	Pulmonary artery aneurysm, Pulmonary artery dilatation, Tricuspid regurgitation, Emphysema, Oligo...	OMIM:614437
Bardet-Biedl Syndrome 17	Postaxial foot polydactyly, Hypogonadism, Mesoaxial hand polydactyly, Obesity, Stage 5 chronic ki...	OMIM:615994
Gm1 Gangliosidosis	Coarse metaphyseal trabecularization, Abnormal epiphysis morphology, Cardiomyopathy, Abnormal dia...	ORPHA:354
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Pulmonary embolism, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal heart valve m...	ORPHA:1345
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome	Hypoplasia of penis, Obesity, Aplasia/Hypoplasia of the testes, Cryptorchidism	ORPHA:3055
Ovarian Dysgenesis 6	Absence of pubertal development, Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primar...	OMIM:618078
Lethal Congenital Contracture Syndrome 10	Increased variability in muscle fiber diameter, Narrow chest, Stiff neck, Broad ribs, Intrauterin...	OMIM:617022
46,Xy Sex Reversal 11	Elevated circulating luteinizing hormone level, Vanishing testis, Decreased serum testosterone co...	OMIM:273250
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Elevated circulating luteinizing hormone level, Decreased fertility, Cryptorchidism, Polycystic o...	ORPHA:90796
16P13.11 Microduplication Syndrome	Tetralogy of Fallot, Ventricular septal defect, Joint hypermobility, Arachnodactyly, Hand polydac...	ORPHA:261243
Combined Oxidative Phosphorylation Deficiency 41	Intrauterine growth retardation, Nonimmune hydrops fetalis, Cardiomegaly, Decreased circulating c...	OMIM:618838
Martsolf Syndrome 1	Broad femoral neck, Short toe, Cardiomyopathy, Slender ulna, Congestive heart failure, Avascular ...	OMIM:212720
Obesity	Obesity, Increased waist to hip ratio	OMIM:601665
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
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
Naxos Disease	Dilated cardiomyopathy, Palmoplantar keratoderma, Congestive heart failure, Abnormal heart morpho...	OMIM:601214
Thanatophoric Dysplasia, Type Ii	Small abnormally formed scapulae, Hypoplastic ilia, Narrow chest, Micromelia, Flared metaphysis, ...	OMIM:187601
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Short distal phalanx of finger, Short thumb, Abnormal lung lobation, Atrioventricular canal defec...	ORPHA:1120
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Neonatal respiratory distress, Elevated circulating thyroid-stimulating hormone concentration, Re...	OMIM:610978
Transaldolase Deficiency	Hepatic fibrosis, Clitoral hypertrophy, Micronodular cirrhosis, Decreased liver function, Failure...	OMIM:606003
Perrault Syndrome 4	Decreased serum estradiol, Hypoplasia of the ovary, Oligomenorrhea, Primary amenorrhea, Increased...	OMIM:615300
Perrault Syndrome 6	Irregular menstruation, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Hypopl...	OMIM:617565
Camptobrachydactyly	Short toe, Septate vagina, Hand polydactyly, Brachydactyly, Congenital finger flexion contracture...	OMIM:114150
Cardiomyopathy, Dilated, 1D	Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Left vent...	OMIM:601494
Joubert Syndrome 18	Occipital encephalocele, Horseshoe kidney, Intrauterine growth retardation, Trident pelvis, Ventr...	OMIM:614815
Hydrops Fetalis, Nonimmune	Anemia, Hydrops fetalis, Nonimmune hydrops fetalis, Congestive heart failure	OMIM:236750
Infantile-Onset X-Linked Spinal Muscular Atrophy	Ankle flexion contracture, Skeletal muscle atrophy, Interphalangeal joint contracture of finger, ...	ORPHA:1145
Hyperparathyroidism, Transient Neonatal	Hyperparathyroidism, Fractured rib, Unilateral renal agenesis, Metaphyseal spurs, Umbilical herni...	OMIM:618188
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Proximal...	OMIM:613954
Autosomal Recessive Polycystic Kidney Disease	Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Hepatoblastoma, Jaun...	ORPHA:731
Roifman Syndrome	Recurrent pneumonia, Short toe, Intrauterine growth retardation, Irregular femoral epiphysis, Spl...	OMIM:616651
Acromesomelic Dysplasia 3	Aplasia of the proximal phalanx of the 2nd finger, Widened proximal tibial metaphyses, Short 1st ...	OMIM:609441
American Trypanosomiasis	Periorbital edema, Cardiomyopathy, Congestive heart failure, Splenomegaly, Hepatomegaly, Arrhythm...	ORPHA:3386
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome	Thin ribs, Bifid scrotum, Respiratory insufficiency, Glandular hypospadias, Penile hypospadias, C...	ORPHA:456328
Alstrom Syndrome	Insulin-resistant diabetes mellitus, Hyperinsulinemia, Hepatic steatosis, Hepatomegaly, Tubuloint...	OMIM:203800
Classic Glucose Transporter Type 1 Deficiency Syndrome	Dystonia, Central apnea, Cyanosis, Choreoathetosis	ORPHA:71277
Combined Oxidative Phosphorylation Deficiency 30	Respiratory distress, Left ventricular hypertrophy, Death in infancy	OMIM:616974
Idiopathic Pulmonary Hemosiderosis	Reticular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Hepatosplenomegaly, Nodular pat...	ORPHA:99931
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Cryptorchidism, Patent foramen ovale, Tremor, Limb hypertonia, Atrial septal defect, Exaggerated ...	OMIM:620327
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Decreased testicular size, Azoospermia, Absence of pubertal development, Cryptorchidism, Hypogona...	OMIM:614837
Orofaciodigital Syndrome Xvii	Renal hypoplasia, Clinodactyly, Tetralogy of Fallot, Short middle phalanx of the 2nd finger, Part...	OMIM:617926
Helsmoortel-Van Der Aa Syndrome	Small hand, Genu valgum, Cryptorchidism, Mitral valve prolapse, Mitral regurgitation, Atrial sept...	OMIM:615873
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Nemaline bodies, Joint contracture of the hand, Chylothorax, Skeletal muscle atrophy, Increased e...	OMIM:620278
Neurooculocardiogenitourinary Syndrome	Bilateral cryptorchidism, Tricuspid regurgitation, Patent foramen ovale, Ventricular septal defec...	OMIM:618652
Beta-Thalassemia Major	Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopituitarism,...	ORPHA:231214
Pallister-Hall Syndrome	Toe syndactyly, Postaxial foot polydactyly, Distal shortening of limbs, Cryptorchidism, Ventricul...	OMIM:146510
Craniorachischisis	Bifid sternum, Sirenomelia, Congenital diaphragmatic hernia	ORPHA:63260
Thrombocytopenia-Absent Radius Syndrome	Broad thumb, Finger syndactyly, Fibular aplasia, Aplasia/Hypoplasia of the patella, Aplasia/Hypop...	ORPHA:3320
Smith-Lemli-Opitz Syndrome	Small scrotum, Postaxial foot polydactyly, Overlapping toe, Cryptorchidism, Hepatic steatosis, Ve...	OMIM:270400
Ovarian Fibrothecoma	Abnormality of the ovary, Ascites, Gonadal calcification, Pleural effusion, Metrorrhagia, Abnorma...	ORPHA:314478
Mosaic Variegated Aneuploidy Syndrome 1	Intrauterine growth retardation, Micrognathia, Short sternum, Embryonal rhabdomyosarcoma, Atrial ...	OMIM:257300
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Tetralogy of Fallot, Cryptorchidism, Cyanosis, Opisthotonus, Overriding aorta, Double outlet righ...	ORPHA:3304
Severe Neurodegenerative Syndrome With Lipodystrophy	Hyperinsulinemia, Limb dystonia, Reduced subcutaneous adipose tissue, Myopathy, Tremor, Hyperacti...	ORPHA:363400
Momo Syndrome	Short sternum, Large hands	OMIM:157980
Neuralgic Amyotrophy	Upper limb muscle weakness, Respiratory insufficiency, Scapular winging, Acrocyanosis, Upper limb...	ORPHA:2901
Fanconi Anemia, Complementation Group O	Chromosome breakage, Absent thumb, Short thumb, Abnormal heart morphology, Death in infancy, Neon...	OMIM:613390
Turner Syndrome Due To Structural X Chromosome Anomalies	Micrognathia, Genu valgum, Bicuspid aortic valve, Atrial septal defect, Splayed toes, Abnormal fo...	ORPHA:99413
Mosaic Monosomy X	Micrognathia, Genu valgum, Bicuspid aortic valve, Atrial septal defect, Splayed toes, Abnormal fo...	ORPHA:99228
Monosomy X	Micrognathia, Genu valgum, Bicuspid aortic valve, Atrial septal defect, Splayed toes, Abnormal fo...	ORPHA:99226
Turner Syndrome	Micrognathia, Genu valgum, Bicuspid aortic valve, Atrial septal defect, Splayed toes, Abnormal fo...	ORPHA:881
Leprechaunism	Clitoral hypertrophy, Long penis, Central hypothyroidism, Failure to thrive, Nephrocalcinosis, Ov...	ORPHA:508
Histiocytosis-Lymphadenopathy Plus Syndrome	Clinodactyly, Hepatosplenomegaly, Joint contracture of the 5th finger, Mitral valve prolapse, Ven...	OMIM:602782
Histiocytoid Cardiomyopathy	Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Failure to thrive, Conges...	ORPHA:137675
Congenital Disorder Of Glycosylation, Type Iie	Secundum atrial septal defect, Failure to thrive, Decreased liver function, Congestive heart fail...	OMIM:608779
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Abnormality of the urinary system, Polyhydramnios, Splenomegaly, Limb undergrowth, Abnormal limb ...	ORPHA:2204
Mckusick-Kaufman Syndrome	Hypoplastic left heart, Multicystic kidney dysplasia, Postaxial foot polydactyly, Finger syndacty...	ORPHA:2473
Muscular Dystrophy, Duchenne Type	Calf muscle pseudohypertrophy, Dilated cardiomyopathy, Muscular dystrophy, Cardiomyopathy, Hamstr...	OMIM:310200
Dominant Beta-Thalassemia	Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopituitarism,...	ORPHA:231226
Synpolydactyly 2	Toe syndactyly, Carpal synostosis, Polydactyly, Tarsal synostosis, Metatarsal synostosis, Metacar...	OMIM:608180
Isolated Congenital Hypoglossia/Aglossia	Respiratory distress, Dyspnea	ORPHA:141152
Fanconi Anemia	Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Cryptorchidism, Renal hypoplasi...	ORPHA:84
Normosmic Congenital Hypogonadotropic Hypogonadism	Male hypogonadism, Absence of secondary sex characteristics, Non-obstructive azoospermia, Decreas...	ORPHA:432
Phosphoserine Aminotransferase Deficiency	Death in infancy, Apnea, Cyanotic episode	OMIM:610992
Criss-Cross Heart	Respiratory insufficiency, Mitral stenosis, Abnormal mitral valve morphology, Ventricular septal ...	ORPHA:1461
Chromosome 18Q Deletion Syndrome

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