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
Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis 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
Syndactyly Type 2
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... ORPHA:93403
Congenital Absence Of Upper Arm And Forearm With Hand Present
Syndactyly, Abnormal lung morphology, Abnormal thorax morphology, Upper limb phocomelia, Abnormal... ORPHA:294975
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Reduced vital capacity, Autophagic vacuoles, Facial hypotonia, Fatty replacement of skeletal musc... ORPHA:266
Spinal Muscular Atrophy, Type I
Recurrent respiratory infections, Ventricular septal defect, Spinal muscular atrophy, Respiratory... OMIM:253300
Peripartum Cardiomyopathy
Ventricular tachycardia, Left bundle branch block, Pedal edema, Right ventricular dilatation, Abn... ORPHA:563
Lethal Congenital Contracture Syndrome 3
Skeletal muscle atrophy, Multiple joint contractures, Respiratory insufficiency, Neonatal death, ... OMIM:611369
Metatropic Dysplasia
Abnormal metaphyseal vascular invasion, Flexion contracture, Long coccyx, Narrow greater sciatic ... OMIM:156530
Idiopathic/Heritable Pulmonary Arterial Hypertension
Hepatomegaly, Tricuspid regurgitation, Abnormal cardiovascular system physiology, Heart murmur, P... ORPHA:422
Coronary Arterial Fistula
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Pedal edema, Right ventricular dila... ORPHA:2041
Congenital Radioulnar Synostosis
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... ORPHA:3269
Renal Hypodysplasia/Aplasia 1
Renal dysplasia, Proteinuria, Primary amenorrhea, Anhydramnios, Hypertension, Bicornuate uterus, ... OMIM:191830
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Ventricular septal defect, Polyhydramnios, Cryptorchidism, Postaxial hand polydacty... ORPHA:1655
Synpolydactyly 1
2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... OMIM:186000
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Arachnodactyly, Rocker bottom foot, Ulnar bowing, Humeroradial synostosis, Flexion contracture, U... OMIM:207410
Multiple Synostoses Syndrome 1
Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan... OMIM:186500
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Respiratory insufficiency due to muscle weakness, Flexion contracture, Death in adolescence, Resp... OMIM:300717
Death in infancy, Cardiomegaly OMIM:227150
Bardet-Biedl Syndrome 1
Hepatic fibrosis, Micropenis, Syndactyly, Abnormality of the kidney, Nephrogenic diabetes insipid... OMIM:209900
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha... OMIM:618167
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Ventricular septal defect, Small for gestational age, Polyhydramnios, Large for gestational age, ... ORPHA:254534
Combined Oxidative Phosphorylation Deficiency 8
Death in infancy, Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fract... OMIM:614096
Meacham Syndrome
Hypoplasia of penis, Abnormality of the spleen, Abnormal lung lobation, Conotruncal defect, Abnor... ORPHA:3097
Hydatidiform Mole
Hyperthyroidism, Miscarriage, Menometrorrhagia, Enlarged uterus ORPHA:99927
Osteopenia, Sclerosis of hand bone, Micrognathia, Absent frontal sinuses, Hypoplastic vertebral b... OMIM:224300
Mosaic Trisomy 16
Syndactyly, Hypospadias, Single transverse palmar crease, Ventricular septal defect, Small for ge... ORPHA:1708
Cardiomyopathy, Dilated, 1I
Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce... OMIM:604765
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Hepatic cysts, Malformation of the hepatic ductal plate, Situs inversus totalis, As... OMIM:615415
Trichohepatoenteric Syndrome 1
Polyhydramnios, Hepatic fibrosis, Hepatomegaly, Hypospadias, Increased mean platelet volume, Abno... OMIM:222470
Greenberg Dysplasia
Micromelia, Polyhydramnios, Abnormal lung lobation, Hydrops fetalis, Tetraphocomelia, Hypoplasia ... OMIM:215140
Infantile Sialic Acid Storage Disease
Hepatomegaly, Failure to thrive, Premature birth, Cardiomegaly, Splenomegaly, Congestive heart fa... OMIM:269920
Meckel Syndrome, Type 1
Occipital encephalocele, External genital hypoplasia, Adrenal hypoplasia, Asplenia, Ambiguous gen... OMIM:249000
Spondylometaphyseal Dysplasia, X-Linked
Hip contracture, Hyperextensibility of the finger joints, Tapered finger, Respiratory insufficien... OMIM:313420
Congenital Myopathy 14
Hip contracture, Death in infancy, Apnea, Respiratory insufficiency due to muscle weakness, Flexi... OMIM:618414
Hemochromatosis, Type 2A
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Congestive heart failure, Dilated card... OMIM:602390
Syndactyly, Type Iv
1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... OMIM:186200
Hemochromatosis, Type 2B
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Congestive heart failure, Secondary am... OMIM:613313
Pontocerebellar Hypoplasia, Type 1C
Skeletal muscle atrophy, Spinal muscular atrophy, Respiratory insufficiency, Respiratory failure,... OMIM:616081
Asbestos Intoxication
Reduced forced vital capacity, Nonproductive cough, Decreased DLCO, Oxygen desaturation on exerti... ORPHA:2302
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Respiratory failure requiring assisted ventilation, Cyanosis, Premature birth, Card... ORPHA:555874
Atrial Septal Defect, Ostium Primum Type
First degree atrioventricular block, Atrioventricular block, Right ventricular dilatation, Fixed ... ORPHA:99106
Bent Bone Dysplasia Syndrome 2
Osteopenia, Atrial septal defect, Hepatomegaly, Ulnar deviation of the hand, Bowed humerus, Ulnar... OMIM:620076
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria... ORPHA:99105
Camptosynpolydactyly, Complex
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly OMIM:607539
Meckel Syndrome, Type 8
Encephalocele, Occipital encephalocele, Pericardial effusion, Anhydramnios, Polydactyly, Talipes ... OMIM:613885
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Camptodactyly of finger, Facial palsy, Pectus excavatum, Increased variabil... OMIM:614399
Congenital Muscular Dystrophy, Ullrich Type
Long toe, Torticollis, Micrognathia, Abnormal muscle fiber morphology, Flexion contracture, Hip d... ORPHA:75840
Hemochromatosis, Type 1
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Ca... OMIM:235200
Abnormal lung lobation, Hydrops fetalis, Right ventricular dilatation, Narrow greater sciatic not... ORPHA:79328
Muscular Dystrophy, Congenital, 1B
Facial palsy, Achilles tendon contracture, Generalized muscle hypertrophy, Pectoralis amyotrophy,... OMIM:604801
Atrial Fibrillation, Familial, 10
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement,... OMIM:614022
Cardiomyopathy, Dilated, 1R
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:613424
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Hand muscle atrophy, Joint laxity, Respiratory failure, Hypoplasia of the capital femoral epiphys... OMIM:600561
Bardet-Biedl Syndrome 6
Syndactyly, Hypospadias, External genital hypoplasia, Postaxial polydactyly, Vaginal atresia OMIM:605231
Hepatorenocardiac Degenerative Fibrosis
Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Renal cyst, Hepatosp... OMIM:619902
Tarp Syndrome
Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Micrognathia, Pectus ... OMIM:311900
Congenital Arthrogryposis With Anterior Horn Cell Disease
Skeletal muscle atrophy, Rocker bottom foot, Single transverse palmar crease, Micrognathia, Respi... OMIM:611890
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Hepatomegaly, Increased urine succinate level, Elevated circulating aspa... OMIM:619048
Oocyte/Zygote/Embryo Maturation Arrest 10
Repeated implantation failure, Miscarriage, Female infertility, Formation of multiple pronuclei d... OMIM:619176
Nemaline Myopathy 8
Death in infancy, Facial palsy, Flexion contracture, Respiratory failure, Myofibrillar myopathy, ... OMIM:615348
Apert Syndrome
Limited elbow movement, Delayed epiphyseal ossification, Pectus carinatum, Cutaneous finger synda... OMIM:101200
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ... OMIM:610921
Nephronophthisis 16
Renal insufficiency, Situs inversus totalis, Stage 5 chronic kidney disease, Cholestasis, Peripor... OMIM:615382
Endocardial Fibroelastosis
Hypoplasia of penis, Sandal gap, Cryptorchidism, Congestive heart failure, Endocardial fibroelast... ORPHA:2022
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Anemia, Leukopenia, Neutropenia, Enlarg... OMIM:615285
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Hepatomegaly, Death in infancy, Hypospadias, Camptodactyly of finger, Abnormal pulmonary valve mo... ORPHA:1194
Meacham Syndrome
Bicuspid aortic valve, Blind vagina, Death in childhood, Scimitar anomaly, Atrial septal defect, ... OMIM:608978
Triphalangeal Thumb, Nonopposable
Polydactyly, Triphalangeal thumb OMIM:190600
Cardiomyopathy, Dilated, 1M
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:607482
Tibial Muscular Dystrophy
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... ORPHA:609
Fibrodysplasia Ossificans Progressiva
Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ecto... OMIM:135100
Bardet-Biedl Syndrome 12
Hydroureter, Abdominal mass, Postaxial hand polydactyly, Hydrometrocolpos, Obesity, Cystic renal ... OMIM:615989
Meckel Syndrome 12
Rocker bottom foot, Ureteral hypoplasia, Renal hypoplasia, Hypoplasia of the uterus, Bilateral re... OMIM:616258
Arthrogryposis Multiplex Congenita 6
Death in infancy, Increased variability in muscle fiber diameter, Respiratory failure, Death in c... OMIM:619334
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Single transverse palmar crease, External genital hypoplasia, Large for gestational age, Polyhydr... ORPHA:96334
Aa Amyloidosis
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Cholestasis, Abnorm... ORPHA:85445
Tetraamelia-Multiple Malformations Syndrome
Abnormally ossified vertebrae, Missing ribs, Cryptorchidism, Abnormal lung lobation, Abnormal rib... ORPHA:3301
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... ORPHA:488191
Endometriosis, Susceptibility To, 1
Decreased fertility, Dysmenorrhea, Endometriosis OMIM:131200
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Syndactyly, Ventricular septal defect, Thoracic hypoplasia, Micromelia, Pos... OMIM:617895
Hyperekplexia 4
Flexion contracture, Respiratory failure, Distal arthrogryposis, Talipes equinovarus, Camptodacty... OMIM:618011
Beckwith-Wiedemann Syndrome
Ureteral duplication, Polyhydramnios, Cardiomegaly, Large for gestational age, Subchorionic septa... ORPHA:116
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypospadias, Small for gestational age, Cardiomegaly, Cryptorchidism, Perimembranous ventricular ... OMIM:620135
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Short humerus, Dextrocardia, Proximal placement of thumb, Polyhydramnios, Absent radius, Urethral... OMIM:314390
Microphthalmia, Syndromic 12
Ventricular septal defect, Congenital diaphragmatic hernia, Cryptorchidism, Hypoplastic left atri... OMIM:615524
Cardiomyopathy, Dilated, 1Ff
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:613286
Immunodeficiency, Common Variable, 6
Hepatomegaly, Recurrent respiratory infections, Glomerulonephritis, Autoimmune thrombocytopenia, ... OMIM:613496
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Hepatosplenomegaly, Hypertension, Polycystic kidney dysplasia, Re... OMIM:617610
Mckusick-Kaufman Syndrome
Syndactyly, Congenital hip dislocation, Hydroureter, Mesoaxial hand polydactyly, Edema, Cryptorch... OMIM:236700
Sandhoff Disease
Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Congestive heart failure, Failure t... ORPHA:796
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Ureteral duplication, Cardiomegaly, Macrovesicular hepatic steatosis, Antenatal intracerebral hem... OMIM:608836
Renal-Hepatic-Pancreatic Dysplasia 1
Asplenia, Hepatic fibrosis, Atrial septal defect, Neonatal death, Hepatomegaly, Portal hypertensi... OMIM:208540
Intermediate Nemaline Myopathy
Skeletal muscle atrophy, Facial palsy, Multiple prenatal fractures, Abnormal thorax morphology, F... ORPHA:171433
Spermatogenic Failure, X-Linked, 1
Sertoli cell-only phenotype, Obesity OMIM:305700
Rudiger Syndrome
Death in infancy, Single transverse palmar crease, Flexion contracture, Ovarian cyst, Bicornuate ... OMIM:268650
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Scapular winging, Reduced vital capacity, Quadriceps muscle weakness, Achilles tendon contracture... OMIM:603689
Bardet-Biedl Syndrome 19
Renal insufficiency, Ventricular septal defect, External genital hypoplasia, Postaxial polydactyl... OMIM:615996
Mucopolysaccharidosis-Plus Syndrome
Metaphyseal widening, Leukopenia, Macrovesicular hepatic steatosis, Neutropenia, Atrial septal de... OMIM:617303
Mulibrey Nanism
Hepatomegaly, Single transverse palmar crease, Nephroblastoma, Cardiomegaly, Congestive heart fai... OMIM:253250
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Edema, Pulmonary embolism, Microcytic anemia, Congesti... ORPHA:90308
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... OMIM:601493
3-Methylglutaconic Aciduria, Type V
Prolonged QT interval, Noncompaction cardiomyopathy, Hypospadias, Elevated circulating aspartate ... OMIM:610198
Symptomatic Form Of Hfe-Related Hemochromatosis
Cardiomegaly, Hypothyroidism, Hepatomegaly, Hypogonadotropic hypogonadism, Portal hypertension, C... ORPHA:465508
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Multiple small medullary renal cysts, Renal cyst, Dehydration, Hepatic fibrosis, Neonatal death, ... OMIM:263200
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Death in infancy, Apnea, Respiratory insufficiency, Respiratory failure, Muscular dystrophy OMIM:613869
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Neonatal respiratory distress, Apnea, Dyspnea, Desquamative interstitial pneumo... OMIM:265120
Cardiomyopathy, Familial Hypertrophic, 27
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Nonimmune hydrops fetalis, Cardio... OMIM:618052
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Type II pneumocyte hypertrophy, Desquamative interstitial pneumonitis, Recu... OMIM:263000
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Situs inversus totalis, Stage 5 chronic kidney... OMIM:602088
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Death in infancy, Ventricular septal defect, Apnea, Respiratory failure, Dystonia, Hypertrophic c... OMIM:616277
Perching Syndrome
Respiratory distress, Cyanosis, Dysphagia, Camptodactyly, Joint contracture OMIM:617055
Cardiomyopathy, Dilated, 2A
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:611880
Congenital Heart Block
Premature birth, First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Conges... ORPHA:60041
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Prematur... ORPHA:70589
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly, Hypertrophic cardiomyopathy ORPHA:79281
Cardiomyopathy, Dilated, 1U
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... OMIM:613694
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Wolff-Parkinson-White syndrome, Tricuspid regurgitation, Bronchiectasis, Decreased proportion of ... OMIM:619705
Ring Chromosome Y Syndrome
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... ORPHA:261529
Immunodeficiency 95
Respiratory distress, Recurrent respiratory infections, Respiratory failure, Recurrent viral pneu... OMIM:619773
Cardiac Lipidosis, Familial
Cardiomyopathy, Congestive heart failure, Death in infancy OMIM:212080
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Skeletal muscle atrophy, Neonatal respiratory distress, Spinal muscular atrophy, Multiple prenata... OMIM:616867
Bardet-Biedl Syndrome 5
Syndactyly, External genital hypoplasia, Polydactyly, Hypogonadism, Micropenis, Brachydactyly OMIM:615983
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Hepatomegaly, Postaxial polydactyly, Polyhydramnios, Splenomegaly, Postaxial hand polydactyly, Hy... OMIM:617088
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Death in infancy, Nonimmune hydrops fetalis, Splenomegaly, Cardiomyopathy, Abnormal... OMIM:608540
Cardiomyopathy, Dilated, 1L
Increased left ventricular end-diastolic volume, Reduced systolic function, Sudden cardiac death,... OMIM:606685
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility, Zygotic cleavage failure OMIM:619011
Congenital Muscular Dystrophy With Intellectual Disability
Hypoglycosylation of alpha-dystroglycan, Multiple joint contractures, Facial palsy, Reduced muscl... ORPHA:370968
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Clubbing, ... OMIM:610913
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Right ventricular dilatation, Hepatomegaly, Hepatic steatosis, Elevated hepatic transaminase ORPHA:369840
Bardet-Biedl Syndrome 11
Hypogonadism, Obesity OMIM:615988
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Central apnea, Death in infancy, Respiratory failure, Respiratory insufficiency OMIM:611722
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Right ventr... OMIM:618920
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Ulnar deviation of the hand, Ventricular septal defect, Proximal placement of thumb, Patent foram... OMIM:620113
Bardet-Biedl Syndrome 16
Recurrent respiratory infections, Renal insufficiency, Renal agenesis, External genital hypoplasi... OMIM:615993
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Dyspnea, Upper limb muscle weakness, Respirat... ORPHA:90117
Microcephaly 20, Primary, Autosomal Recessive
Renal hypoplasia, Hypoplasia of the uterus, Ureteral agenesis, Bilateral renal agenesis, Intraute... OMIM:617914
Marshall-Smith Syndrome
Thoracic scoliosis, Large sternal ossification centers, Apnea, Distal widening of metacarpals, Co... OMIM:602535
Cardiomyopathy, Familial Hypertrophic, 15
Hyperdynamic left ventricular ejection fraction, Congestive heart failure, Myofiber disarray, Lef... OMIM:613255
Cardiomyopathy, Familial Hypertrophic, 4
First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo... OMIM:115197
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Right ventricular dilatation, Pneumonia, Right ventricular hypertrophy OMIM:253700
Chromosome 6Q24-Q25 Deletion Syndrome
Persistent fetal circulation, Atrial septal defect, Tricuspid regurgitation, Sandal gap, Dysplast... OMIM:612863
Vacterl Association With Hydrocephalus
Absent thumb, Radial club hand, Respiratory insufficiency, Abnormal heart morphology, Respiratory... OMIM:276950
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, First degree atrioventricular block, Pedal edema, Right ventricular dilatati... ORPHA:99103
Congenital Toxoplasmosis
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Premature birth, Cardi... ORPHA:858
Placental Insufficiency
Abnormal umbilical cord blood vessel morphology, Abnormal lung morphology, Small placenta, Abnorm... ORPHA:439167
Vaginal Atresia
Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Primary amenorrhea, ... ORPHA:65681
Tarp Syndrome
Finger syndactyly, Apnea, Single transverse palmar crease, Rocker bottom foot, Postaxial polydact... ORPHA:2886
Congenitally Uncorrected Transposition Of The Great Arteries
Cardiac shunt, Maternal diabetes, Cardiomegaly, Dextrotransposition of the great arteries, Abnorm... ORPHA:860
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Renal dysplasia, Hypoparathyroidism, Renal insufficiency, Diabetes mellitus, Septate vagina, Unil... ORPHA:2237
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Recurrent respiratory infections, Postaxial polydactyly, Lateral clavicle hook, Respiratory insuf... OMIM:615633
Familial Atrial Myxoma
Tricuspid regurgitation, Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Jaundice, Congestiv... ORPHA:615
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Facial palsy, Polyhydramnios, Respiratory insufficiency due to muscle weakn... OMIM:300580
Cirrhotic Cardiomyopathy
Cardiomegaly, Right atrial enlargement, Global systolic dysfunction, Hepatomegaly, Elevated pulmo... ORPHA:57777
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Shortened PR interval, Cardiomyopathy,... OMIM:261740
Syndactyly Type 4
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Limitation of join... ORPHA:93405
Morbid Obesity And Spermatogenic Failure
Myocardial infarction, Congestive heart failure, Obesity, Oligozoospermia, Azoospermia, Hypertens... OMIM:615703
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Hypergonadotropic hypogonadism, Respiratory insufficiency due to muscle weakness, Dyspnea, Ragged... ORPHA:352447
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Renal insufficiency, Premature birth, Polyhydramnios, Renal hypoplasia/aplasia, Hyd... ORPHA:2123
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartate aminotransferase concentratio... OMIM:212140
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... OMIM:604169
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Micrognathia, Dyspnea, Respiratory failure, Mandibular aplasia, Intrauterin... ORPHA:1832
Kaposiform Lymphangiomatosis
Abnormal ischium morphology, Epidural hemorrhage, Abnormal pelvis bone morphology, Metrorrhagia, ... ORPHA:464329
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Myopathy, Hypertrophic cardiomyopathy, Cyanosis ORPHA:91130
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Congestive heart failure, Cardiomegaly OMIM:300886
Congenital Generalized Lipodystrophy
Hepatomegaly, Overgrowth of external genitalia, Diabetes mellitus, Precocious puberty in females,... ORPHA:528
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Congestive heart failure, Hydrops fetalis, C... ORPHA:2414
Combined Oxidative Phosphorylation Deficiency 17
Death in infancy, Congestive heart failure, Death in childhood, Intrauterine growth retardation, ... OMIM:615440
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Abnormal tricuspid valve morphology, Premature birth, Maternal diabetes ORPHA:1208
Cardiomyopathy, Dilated, 1Ee
Reduced left ventricular ejection fraction, Congestive heart failure, Increased left ventricular ... OMIM:613252
Loeffler Endocarditis
Abnormal cardiomyocyte morphology, Endocardial fibrosis, Abnormal morphology of the chordae tendi... ORPHA:75566
Cardiomyopathy, Dilated, 1J
Abnormal left ventricular function, Congestive heart failure, Dilated cardiomyopathy, Sudden card... OMIM:605362
Congenital Myopathy 21 With Early Respiratory Failure
Dyspnea, Lipoid pneumonia, EMG: myopathic abnormalities, Respiratory failure, Nocturnal hypoventi... OMIM:620326
Acropectoral Syndrome
Pectus excavatum, Partial duplication of thumb phalanx, Preaxial polydactyly, Pectus carinatum, T... OMIM:605967
Bardet-Biedl Syndrome 2
Bicuspid aortic valve, External genital hypoplasia, Dilated cardiomyopathy, Obesity, Hypogonadism... OMIM:615981
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Skeletal muscle atrophy, Streak ovary, Abnormality of female external genitalia, Increased circul... ORPHA:168563
Congenital Myopathy 8
Congestive heart failure, Cardiomegaly OMIM:618654
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Skeletal muscle atrophy, Hip contracture, Decreased fetal movement, Lower l... ORPHA:1143
Renal, Genital, And Middle Ear Anomalies
Vaginal atresia OMIM:267400
Postsynaptic Congenital Myasthenic Syndromes
Thoracic kyphoscoliosis, Skeletal muscle atrophy, Reduced vital capacity, Orthopnea, Facial palsy... ORPHA:98913
Stuve-Wiedemann Syndrome 2
Respiratory distress, Bowing of the long bones, Death in adolescence, Short long bone, Stillbirth... OMIM:619751
Cardiomyopathy, Dilated, 1Dd
Left ventricular systolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Sudden c... OMIM:613172
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Congestive heart failure, Dilated cardiomyopathy, Elbow flexion contracture, Abnormality of the s... ORPHA:206546
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Central apnea, Skeletal muscle atrophy, Congenital hip dislocation, Femur fracture, Single transv... OMIM:618291
Renal Hypodysplasia/Aplasia 4
Respiratory failure, Pulmonary hypoplasia OMIM:619887
Cardiomyopathy, Dilated, 1V
Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... OMIM:613697
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Polyhydramnios, Splenomegaly, Congestive heart f... ORPHA:163596
Cardiac-Urogenital Syndrome
Bifid scrotum, Congenital diaphragmatic hernia, Patent urachus, Atrial septal defect, Scimitar an... OMIM:618280
Mitochondrial Complex I Deficiency, Nuclear Type 11
Wolff-Parkinson-White syndrome, Hepatomegaly, Congestive heart failure, Macrovesicular hepatic st... OMIM:618234
Isolated Right Ventricular Hypoplasia
Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa... ORPHA:439
Gillessen-Kaesbach-Nishimura Syndrome
Thickened nuchal skin fold, Ulnar deviation of the hand, Polyhydramnios, Metaphyseal widening, Ab... OMIM:263210
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Death in infancy, Ventricular septal defect, Abnormal tricuspid valve morph... ORPHA:1354
Hepatomegaly, Hemolytic anemia, Renal insufficiency, Myocardial infarction, Splenomegaly, Jaundic... ORPHA:108
Santos Syndrome
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... OMIM:613005
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... OMIM:613251
Bardet-Biedl Syndrome 10
Renal insufficiency, Obesity, Renal cyst, Hypogonadism, Polydactyly OMIM:615987
Jawad Syndrome
Hallux valgus, Thoracic scoliosis, Single interphalangeal crease of fifth finger, Postaxial polyd... OMIM:251255
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Diabetes mellitus, Dysmenorrhea, Maternal diabetes, Splenomegaly, Congestive heart ... ORPHA:79083
Severe Congenital Nemaline Myopathy
Skeletal muscle atrophy, Hypospadias, Facial palsy, Multiple prenatal fractures, Abnormal thorax ... ORPHA:171430
Cardiomyopathy, Dilated, 1Kk
Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D... OMIM:615248
Heterotaxy, Visceral, 1, X-Linked
Congenital hip dislocation, Polyhydramnios, Cardiomegaly, Asplenia, Biliary atresia, Dextrotransp... OMIM:306955
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Recurrent respiratory infections, Long palm, Arachnodactyly, Missing ribs, ... ORPHA:2759
Cardiomyopathy, Dilated, 1Gg
Respiratory distress, Dilated cardiomyopathy, Left ventricular noncompaction OMIM:613642
Oocyte/Zygote/Embryo Maturation Arrest 13
Repeated implantation failure, Female infertility OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility, Zygotic cleavage failure OMIM:619009
Combined Oxidative Phosphorylation Deficiency 23
Congestive heart failure, Dilated cardiomyopathy, Arrhythmia, Intrauterine growth retardation, Hy... OMIM:616198
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Generalized dystonia, Abnormal reproductive system morphology, Abnormal heart morphology, Respira... ORPHA:70472
Oocyte/Zygote/Embryo Maturation Arrest 12
Abnormal preimplantation embryonic development, Female infertility OMIM:619697
Wild Type Attr Amyloidosis
Hepatomegaly, Abnormal EKG, Renal insufficiency, Proteinuria, Myocardial infarction, Congestive h... ORPHA:330001
Syndromic X-Linked Intellectual Disability 7
Hypoplasia of penis, Cryptorchidism, Obesity, Hypogonadism, Micropenis ORPHA:85274
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Right ventricular dilatation, Ventricular tachycardia, First degree atrioventricular block, Left ... OMIM:615616
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Long toe, Overlapping toe, Single transverse palmar crease, Polyhydramnios, Large placenta, Umbil... ORPHA:254528
Mucolipidosis Ii Alpha/Beta
Cardiomegaly, Metaphyseal widening, Death in childhood, Hepatomegaly, Split hand, Flat acetabular... OMIM:252500
Orofaciodigital Syndrome Iii
Postaxial foot polydactyly, Postaxial hand polydactyly, Pectus excavatum, Short sternum OMIM:258850
Cardiomyopathy, Dilated, 1P
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia OMIM:609909
Sensorineural Deafness With Dilated Cardiomyopathy
Congestive heart failure, Abnormal cardiac ventricular function, Dilated cardiomyopathy ORPHA:217622
Ciliary Dyskinesia, Primary, 5
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Recurren... OMIM:608647
Tricuspid Atresia
Cyanosis, Ventricular septal defect, Hypoplasia of right ventricle, Transposition of the great ar... ORPHA:1209
Pontocerebellar Hypoplasia, Type 4
Death in infancy, Congenital contracture, Respiratory failure OMIM:225753
Restrictive Dermopathy 1
Spontaneous chorioamniotic separation, Ureteral duplication, Polyhydramnios, Adrenal hypoplasia, ... OMIM:275210
Silver-Russell Syndrome Due To A Point Mutation
Bifid scrotum, Syndactyly, Hypospadias, Dysmenorrhea, Small for gestational age, Cryptorchidism, ... ORPHA:397590
Hydatidiform Mole, Recurrent, 3
Hydatidiform mole, Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Hydatidiform mole, Female infertility OMIM:618432
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Dyspareunia, Partial vaginal septum, Metrorrhagia, Abnormal uterine cervix morphology, Dysmenorrh... ORPHA:3411
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum, Supraumbilical raphe OMIM:140850
Polydactyly, Preaxial Iv
Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent... OMIM:174700
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Failure to thrive, Decreased fetal movement, Death in infancy, Edema, Cryptorchidis... OMIM:608104
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Wolff-Parkinson-White syndrome, Diabetes mellitus, Congestive heart failure, Abnormal left ventri... OMIM:540000
Cardiomyopathy, Dilated, 1Hh
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy OMIM:613881
Nephrogenic rest, Increased nuchal translucency, Nephroblastomatosis, Horseshoe kidney, Narrow pe... OMIM:608022
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Centrally nucleated skeletal muscle fibers, Cough, Limb-girdle muscle weakn... ORPHA:86812
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Lower limb muscle weakness, Respiratory insufficiency due to muscle weakness, Flexion contracture... ORPHA:2590
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Polyhydramnios, Neonatal death, Atrial septal defe... OMIM:265380
Small scrotum, Single transverse palmar crease, Micromelia, Polyhydramnios, Adrenal hypoplasia, P... OMIM:612651
Primary Ciliary Dyskinesia
Atrial situs ambiguous, Neonatal respiratory distress, Abnormal atrial arrangement, Respiratory t... ORPHA:244
Ciliary Dyskinesia, Primary, 37
Dextrocardia, Female infertility, Rhinorrhea, Situs inversus totalis, Wheezing, Bronchiectasis, C... OMIM:617577
Prune Belly Syndrome
Congenital hip dislocation, Abnormality of the uterus, Vesicoureteral reflux, Atrial septal defec... ORPHA:2970
Maternally-Inherited Diabetes And Deafness
Glomerulopathy, Renal insufficiency, Proteinuria, Congestive heart failure, Hypertension, Type II... ORPHA:225
Scarf Syndrome
Diastasis recti, Craniosynostosis, Pectus carinatum, Joint hyperflexibility, Short sternum ORPHA:3134
Denys-Drash Syndrome
Diffuse mesangial sclerosis, True hermaphroditism, Nephroblastoma, Septate vagina, Gonadal tissue... OMIM:194080
Immunodeficiency 54
Recurrent respiratory infections, Hepatomegaly, Chromosome breakage, Splenomegaly, Respiratory in... OMIM:609981
Congenital Fibrinogen Deficiency
Cyanosis, Hemorrhagic ovarian cyst, Opisthotonus, Left ventricular hypertrophy, Micropenis, Bruis... ORPHA:335
Fixed Subaortic Stenosis
Aortic regurgitation, Paroxysmal atrial fibrillation, Bicuspid aortic valve, Ventricular septal d... ORPHA:3092
Microphthalmia, Syndromic 9
Agenesis of pulmonary vessels, Atrial septal defect, Pulmonary artery atresia, Neonatal death, Pe... OMIM:601186
Hand-Foot-Genital Syndrome
Shortening of all middle phalanges of the fingers, Recurrent urinary tract infections, Hypospadia... ORPHA:2438
Peroxisome Biogenesis Disorder 8A (Zellweger)
Hepatomegaly, Death in infancy, Ventricular septal defect, Elevated circulating aspartate aminotr... OMIM:614876
Cardiomyopathy, Dilated, 1B
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... OMIM:600884
Glycine Encephalopathy 2
Respiratory failure OMIM:620398
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Vertebral fusion, Skeletal muscle atrophy, Elbow contracture, Facial palsy, Achilles tendon contr... OMIM:606612
Atrial Septal Defect, Coronary Sinus Type
Unroofed coronary sinus, Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic compo... ORPHA:99104
Acute Interstitial Pneumonia
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackles, Pericar... ORPHA:79126
H Syndrome
Hallux valgus, Diabetes mellitus, Abnormality of the kidney, Microcytic anemia, Recurrent pharyng... ORPHA:168569
Developmental And Epileptic Encephalopathy 71
Respiratory failure, Cheyne-Stokes respiration, Respiratory insufficiency OMIM:618328
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Pulmonary cyst, Large for gestational age, Umbilical hernia, Nephroblastoma, Enlarged kidney OMIM:618272
Congenital Multicore Myopathy With External Ophthalmoplegia
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Small scrotum, Flexion cont... ORPHA:98905
Pericarditis, Arthralgia/arthritis, Osteomyelitis, Pneumonia, Bronchitis, Sinusitis, Bronchial br... ORPHA:449280
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Nonimmune hydrops fetalis, Portal... ORPHA:367
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ... ORPHA:75564
Fraser Syndrome 1
Encephalocele, Aplasia/Hypoplasia of the thumb, Clitoral hypertrophy, Hypospadias, Renal hypoplas... OMIM:219000
Cardiomyopathy, Familial Hypertrophic, 8
Left atrial enlargement, Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave i... OMIM:608751
Combined Oxidative Phosphorylation Deficiency 51
Intrauterine growth retardation, Neonatal respiratory distress, Respiratory failure, Aspiration p... OMIM:619057
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Skeletal muscle atrophy, Spinal muscular atrophy, Respiratory insufficiency... ORPHA:254875
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Short femur, Fractured radius, Hypospadias, Ventricular septal defect, Decreased fibular diameter... OMIM:616897
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Glomerulopathy, Diabetes mellitus, Dysmenorrhea, Splenomegaly, Congestive heart fai... ORPHA:2348
Attrv122I Amyloidosis
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Congestive hea... ORPHA:85451
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death, Intrauterine growth retardation, Premature birth, Congestive heart failure OMIM:301021
Cornelia De Lange Syndrome 1
Ventricular septal defect, Single transverse palmar crease, Pneumonia, Micromelia, Proximal place... OMIM:122470
Carvajal Syndrome
Congestive heart failure, Dilated cardiomyopathy, Patchy palmoplantar hyperkeratosis ORPHA:65282
Premature Ovarian Failure 6
Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Fe... OMIM:612310
Momo Syndrome
Femoral bowing, Large hands, Short sternum, Abnormal bone ossification, Congenital pseudoarthrosi... ORPHA:2563
Neuropathy, Congenital Hypomyelinating, 3
Limb joint contracture, Micrognathia, Flexion contracture, 2-3 toe syndactyly, Respiratory insuff... OMIM:618186
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Death in infancy, Iliac crest serration, Micromelia, Cardiomegaly, Wide distal femoral metaphysis... OMIM:613320
Cardiomyopathy, Dilated, 1Z
Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death OMIM:611879
Left Ventricular Noncompaction 10
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:615396
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Nodular pattern on pulmonary HRCT, Cardiomegaly, Diffuse alveolar hemorrhage, Crack... ORPHA:99931
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Camptodactyly of finger, Spinal muscular atrophy, Denervation of the diaphragm, Tachypnea, Intrau... OMIM:604320
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Neonatal respiratory distress, Ventricular septal defect, Decreased respons... OMIM:610978
Proximal Spinal Muscular Atrophy
Skeletal muscle atrophy, Multiple joint contractures, Recurrent infections due to aspiration, Qua... ORPHA:70
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
Ceroid Lipofuscinosis, Neuronal, 10
Apnea, Split hand, Respiratory insufficiency, Respiratory failure, Neonatal death OMIM:610127
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Primary amenorrhea, Female infertility, Delayed puberty OMIM:300604
Congenital Gerbode Defect
Elevated right atrial pressure, Tricuspid regurgitation, Ventricular septal defect, Left-to-right... ORPHA:99095
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Lack of oocyte pronucleus formation, Female infertility OMIM:617996
Orofaciodigital Syndrome Type 3
Pectus excavatum, Postaxial hand polydactyly, Postaxial foot polydactyly, Thoracic kyphosis, Shor... ORPHA:2752
Diethylstilbestrol Syndrome
Central apnea, Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Premature birth, D... ORPHA:1916
Gaucher Disease Type 2
Respiratory distress, Hepatomegaly, Cough, Splenomegaly, Flexion contracture, Dysphagia, Dystonia... ORPHA:77260
Ogden Syndrome
Congenital hip dislocation, Bicuspid aortic valve, Maternal diabetes, Cardiomegaly, Secundum atri... OMIM:300855
Alstrom Syndrome
Chronic active hepatitis, Decreased response to growth hormone stimulation test, Tubulointerstiti... OMIM:203800
Brain-Lung-Thyroid Syndrome
Thyroid dysgenesis, Respiratory distress, Elevated circulating thyroid-stimulating hormone concen... ORPHA:209905
Muscular Hypertonia, Lethal
Respiratory distress, Death in infancy, Decreased fetal movement, Pneumonia, Umbilical hernia OMIM:254120
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Congestive heart fail... ORPHA:139507
Maternal Uniparental Disomy Of Chromosome X
Predominantly lower limb lymphedema, Camptodactyly of finger, Rocker bottom foot, Gonadal tissue ... ORPHA:261519
Restrictive Dermopathy
Decreased fetal movement, Ureteral duplication, Hypospadias, Camptodactyly of finger, Dextrocardi... ORPHA:1662
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... OMIM:615373
Carpenter Syndrome
Syndactyly, Finger syndactyly, Toe syndactyly, External genital hypoplasia, Craniosynostosis, Abn... ORPHA:65759
Scarf Syndrome
Barrel-shaped chest, Diastasis recti, Pectus carinatum, Short sternum, Lambdoidal craniosynostosi... OMIM:312830
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ty... OMIM:605809
Ovarian Dysgenesis 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:619665
Turnpenny-Fry Syndrome
Prominent interphalangeal joints, Pectus carinatum, Long thorax, Narrow chest, Atrial septal defe... OMIM:618371
Premature Ovarian Failure 7
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Secondary amenor... OMIM:612964
Premature Ovarian Failure 13
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... OMIM:617442
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Polycystic liver disease, Recurrent urinary tract infections, Pituitary grow... ORPHA:730
Hereditary Motor And Sensory Neuropathy, Type Iic
Hand muscle atrophy, Proximal muscle weakness in upper limbs, Distal lower limb amyotrophy, Down-... OMIM:606071
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Abnormal thumb morphology, Congestive hear... ORPHA:324410
Ulbright-Hodes Syndrome
Respiratory distress, Short humerus, Short metacarpal, Micrognathia, Humeroradial synostosis, Pne... ORPHA:3404
Beckwith-Wiedemann Syndrome
Hepatomegaly, Overgrowth of external genitalia, Adrenocortical cytomegaly, Cardiomegaly, Cryptorc... OMIM:130650
Attrv30M Amyloidosis
Cardiomegaly, Atrioventricular block, Weight loss, Cardiomyopathy, Impotence, Nephropathy, Arrhyt... ORPHA:85447
Complete Atrioventricular Septal Defect
Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ... ORPHA:1329
Distal Deletion 19P
Vaginal hernia, Ventricular septal defect, Tricuspid valve prolapse, Umbilical hernia, Pulmonary ... ORPHA:96129
Cardiomyopathy, Dilated, 1K
Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm OMIM:605582
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Premature birth, Ebstein anomaly of the tricuspid valve, Respira... ORPHA:1880
Cardiomyopathy, Dilated, 1Bb
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:612877
Thiamine-Responsive Megaloblastic Anemia Syndrome
Diabetes mellitus, Ventricular septal defect, Cardiac arrest, Megaloblastic anemia, Congestive he... ORPHA:49827
Pediatric-Onset Graves Disease
Thyrotoxicosis with diffuse goiter, Increased circulating T4 concentration, Intrauterine growth r... ORPHA:525731
Schinzel-Giedion Midface Retraction Syndrome
Long clavicles, Increased density of long bones, Single transverse palmar crease, Wide distal fem... OMIM:269150
Butyrylcholinesterase Deficiency
Respiratory failure requiring assisted ventilation, Respiratory failure ORPHA:132
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia ORPHA:141152
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Cryptorchidism, Obesity OMIM:309585
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... OMIM:254210
Female infertility, Menorrhagia, Oligomenorrhea, Increased circulating prolactin concentration OMIM:615555
Hand-Foot-Genital Syndrome
Bifid scrotum, Proximal placement of thumb, Pseudoepiphyses, Delayed tarsal ossification, Clinoda... OMIM:140000
Neuraminidase Deficiency
Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Bone-marrow foam cel... OMIM:256550
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Intrauterine growth retardation, Hypertrophic cardiomyopathy, Obesity OMIM:620270
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Weakness of facial musculature, Respiratory failure, Dysphagia OMIM:618637
Gm1-Gangliosidosis, Type I
Hepatomegaly, Death in infancy, Abnormal heart valve morphology, Splenomegaly, Congestive heart f... OMIM:230500
Coffin-Lowry Syndrome
Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, Single transverse palma... OMIM:303600
Combined Oxidative Phosphorylation Deficiency 52
Death in infancy, Anorexia, Respiratory failure, Adrenal insufficiency, Hypertrophic cardiomyopathy OMIM:619386
Bardet-Biedl Syndrome 14
Polydactyly OMIM:615991
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Camptodactyly of finger, Sept... ORPHA:1319
Cednik Syndrome
Proteinuria, Congestive heart failure, Diffuse palmoplantar hyperkeratosis, Nephrotic syndrome, H... ORPHA:66631
Autoinflammatory Disease, Familial, Behcet-Like 3
Vaginal mucosal ulceration OMIM:618287
Maturity-Onset Diabetes Of The Young, Type 11
Overweight, Obesity OMIM:613375
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Cardiomyopathy, Myopathy, Dystonia ORPHA:26792
Bardet-Biedl Syndrome 4
Syndactyly, External genital hypoplasia, Abnormality of the kidney, Cryptorchidism, Obesity, Rena... OMIM:615982
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Renal dysplasia, Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal wi... OMIM:613091
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Ovarian Dysgenesis 7
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... OMIM:618117
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Short humerus, Hypoplasia of penis, Micromelia, Postaxial hand polydactyly, Split hand, Abnormali... ORPHA:2491
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Congenital Myopathy 10B, Mild Variant
Elbow contracture, Fatty replacement of skeletal muscle, Reduced forced vital capacity, Achilles ... OMIM:620249
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy, Abnormal repetitive mannerisms OMIM:616341
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory distress, Hepatomegaly, Respiratory insufficiency due to muscle weakness, Ragged-red ... OMIM:613561
Fraser Syndrome
Hypoplasia of penis, Small scrotum, Abnormal lung lobation, Urethral atresia, Encephalocele, Fing... ORPHA:2052
Fabry Disease
Renal insufficiency, Angina pectoris, Transient ischemic attack, Myocardial infarction, Abnormali... OMIM:301500
Combined Oxidative Phosphorylation Deficiency 28
Decreased fetal movement, Respiratory failure, Ragged-red muscle fibers, Polyhydramnios OMIM:616794
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Cardiomyopathy, Scapular winging, Dilated cardiomyopathy, Congestive heart failure OMIM:608099
Criss-Cross Heart
Cyanosis, Ventricular septal defect, Tricuspid stenosis, Respiratory insufficiency, Transposition... ORPHA:1461
Myotubular Myopathy With Abnormal Genital Development
Bifid scrotum, Death in infancy, Decreased fetal movement, Respiratory distress, Hypospadias, Uni... OMIM:300219
Neu-Laxova Syndrome 1
Micromelia, Polyhydramnios, Fetal akinesia sequence, Calcaneovalgus deformity, Neonatal death, Pa... OMIM:256520
Chronic Thromboembolic Pulmonary Hypertension
Cardiac shunt, Edema, Pulmonary embolism, Right ventricular failure, Increased pulmonary vascular... ORPHA:70591
Cardiac Valvular Dysplasia 1
Cyanosis, Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Valvular pulmon... OMIM:212093
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Polyhydramnios, Cardiomegaly, Large for gestational age, Edema, Finger joi... ORPHA:363705
Transaldolase Deficiency
Abnormality of the kidney, Edema, Thrombocytopenia, Hydrops fetalis, Hepatosplenomegaly, Biventri... ORPHA:101028
Simpson-Golabi-Behmel Syndrome, Type 1
Congenital diaphragmatic hernia, Abnormal lung lobation, Pectus carinatum, Narrow greater sciatic... OMIM:312870
Cardiomyopathy, Familial Hypertrophic, 1
Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy OMIM:192600
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Bicuspid aortic valve, Single transverse palmar crease, 3-5 toe syndactyly, Atrial septal defect,... OMIM:300707
Hereditary Amyloidosis With Primary Renal Involvement
Tubulointerstitial nephritis, Nephropathy, Decreased glomerular filtration rate, Tubulointerstiti... ORPHA:85450
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Right ventricular dilatation ORPHA:369847
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Skeletal muscle atrophy, Increased variability in muscle fiber diameter, Re... ORPHA:238329
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Hepatomegaly, Death in infancy, Failure to thrive in infancy, Card... OMIM:619064
Combined Oxidative Phosphorylation Defect Type 23
Cyanosis, Stridor, Respiratory failure, Paroxysmal dyspnea, Left ventricular hypertrophy, Hypertr... ORPHA:444013
Myopathy And Diabetes Mellitus
Distal lower limb amyotrophy, Respiratory distress, Achilles tendon contracture, Proximal amyotro... ORPHA:2596
Infant Acute Respiratory Distress Syndrome
Pneumonia, Respiratory tract infection, Atelectasis, Abnormal thorax morphology, Tachypnea, Nasal... ORPHA:70587
Combined Oxidative Phosphorylation Deficiency 10
Failure to thrive, Small for gestational age, Cardiomegaly, Pericardial effusion, Pleural effusio... OMIM:614702
Incessant Infant Ventricular Tachycardia
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Left ... ORPHA:45453
Congenital Tracheomalacia
Apnea, Cardiomegaly, Tracheobronchomalacia, Cough, Atrial septal defect, Emphysema, Single ventri... ORPHA:95430
Arterial Calcification, Generalized, Of Infancy, 2
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Nephrocal... OMIM:614473
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Abnormal atrioventricular conduction, My... ORPHA:732
Ovarian Dysgenesis 2
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Secondary amenorrh... OMIM:300510
Congenital Heart Defects, Multiple Types, 2
Aortic regurgitation, Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Cong... OMIM:614980
Mosaic Trisomy 9
Hypoplasia of penis, Micromelia, Polyhydramnios, Asplenia, Abnormal lung lobation, Hydrops fetali... ORPHA:99776
Cryptogenic Organizing Pneumonia
Respiratory distress, Bronchial breath sound, Cyanosis, Anorexia, Crackles, Nonproductive cough, ... ORPHA:1302
Tyrosinemia, Type I
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Gastrointestinal hemorrhage, ... OMIM:276700
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Primar... OMIM:614841
Primary Pulmonary Hypoplasia
Neonatal respiratory distress, Cyanosis, Apnea, Dextrocardia, Abnormal hemidiaphragm morphology, ... ORPHA:2257
Neuralgic Amyotrophy
Scapular winging, Acrocyanosis, Respiratory insufficiency ORPHA:2901
Acro-Renal-Mandibular Syndrome
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Abnormal clavicle morphology, Co... ORPHA:958
Johanson-Blizzard Syndrome
Death in infancy, Hypoplasia of penis, Failure to thrive, Hypospadias, Dextrocardia, Edema, Diabe... ORPHA:2315
Muscular Dystrophy, Duchenne Type
Hypoventilation, Calf muscle pseudohypertrophy, Respiratory insufficiency due to muscle weakness,... OMIM:310200
Lethal Acantholytic Erosive Disorder
Cardiomegaly, 4-5 finger syndactyly, 2-3 finger syndactyly, Cardiomyopathy, Respiratory failure, ... ORPHA:158687
Cardiomyopathy, Familial Hypertrophic, 11
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... OMIM:612098
Combined Oxidative Phosphorylation Deficiency 30
Left ventricular hypertrophy, Death in infancy, Respiratory distress OMIM:616974
Meckel Syndrome 14
Syndactyly, Bowing of the long bones, Tricuspid regurgitation, Occipital encephalocele, Postaxial... OMIM:619879
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Leukopenia, Atrial septal defect, Patent foramen ovale, Tricuspid regurgitation, Hepatosplenomega... ORPHA:505248
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cardiomyopathy OMIM:609016
Timothy Syndrome
Prolonged QT interval, Ventricular septal defect, Pneumonia, Bronchitis, Cardiomegaly, Hypothyroi... OMIM:601005
Ovarian Fibrothecoma
Ovarian fibroma, Metrorrhagia, Abnormal endometrium morphology, Abnormal circulating hormone conc... ORPHA:314478
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Skeletal muscle atrophy, Neonatal respiratory distress, Death in infancy, Respiratory insufficien... OMIM:245400
Atrial Standstill
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... ORPHA:1344
Microphthalmia With Linear Skin Defects Syndrome
Abnormal penis morphology, Respiratory distress, Hypospadias, Congenital diaphragmatic hernia, Ep... ORPHA:2556
Ulnar Hemimelia
Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c... ORPHA:93320
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Amenorrhea, Obesity, Oligomenorrhea OMIM:184700
Bardet-Biedl Syndrome 7
Postaxial polydactyly, 2-3 toe syndactyly, Hypogonadism, Polydactyly, Clinodactyly OMIM:615984
Uruguay Faciocardiomusculoskeletal Syndrome
Hallux valgus, Ventricular hypertrophy, Elevated hepatic transaminase, Congenital hip dislocation... OMIM:300280
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Hepatomegaly, Respiratory failure requiring assisted ventilation, Ragged-re... ORPHA:254864
Lymphoid Interstitial Pneumonia
Hepatomegaly, Multiple pulmonary cysts, Raynaud phenomenon, Respiratory tract infection, Clubbing... ORPHA:79128
Beta-Thalassemia Intermedia
Extramedullary hematopoiesis, Abnormality of the liver, Elevated hepatic iron concentration, Eryt... ORPHA:231222
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Abnormality of the kidney... ORPHA:79333
Complete Androgen Insensitivity Syndrome
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating l... ORPHA:99429
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Nephrocalcinosis, Hepatic steatosis, Hypothyroidism, Tubulointerstitial fibrosis, Hepatomegaly, D... ORPHA:79259
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Death in infancy, Ventricular septal defect, Ectopic kidney, Cryptorchidism, Neonat... OMIM:613730
Bardet-Biedl Syndrome 8
Situs inversus totalis, Hypogonadism, Hypospadias, Obesity OMIM:615985
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... ORPHA:90793
Ehlers-Danlos Syndrome, Classic-Like
Quadricuspid aortic valve, Poor wound healing, Ambiguous genitalia, female, Mitral valve prolapse... OMIM:606408
Poland Syndrome
Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Aplasia of the pectoralis major... ORPHA:2911
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Elevated circulating growth hormone concentration, Enlarged polycystic ovaries, Insulin-resistant... ORPHA:90301
Premature Ovarian Failure 18
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... OMIM:619203
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hepatomegaly, Diabetes mellitus, Abnormal atrioventricular conduction, Supraventricular arrhythmi... ORPHA:280365
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Cantu Syndrome
Broad hallux, Bicuspid aortic valve, Short hallux, Coxa valga, Cardiomegaly, Pericardial effusion... OMIM:239850
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Nonproductive cough... ORPHA:723
Thrombocytopenia-Absent Radius Syndrome
Ureteral duplication, Edema of the dorsum of feet, Edema of the dorsum of hands, Femoral bowing, ... OMIM:274000
Classic Glucose Transporter Type 1 Deficiency Syndrome
Choreoathetosis, Central apnea, Cyanosis, Dystonia ORPHA:71277
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... ORPHA:90797
Donnai-Barrow Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia, Bicornuate uterus, Abnormality of the... ORPHA:2143
Donnai-Barrow Syndrome
Diaphragmatic eventration, Ventricular septal defect, Short sternum, Congenital diaphragmatic hernia OMIM:222448
Omphalocele-Cleft Palate Syndrome, Lethal
Death in infancy, Bicornuate uterus OMIM:258320
Phosphoserine Aminotransferase Deficiency
Death in infancy, Cyanotic episode, Apnea OMIM:610992
Lethal Congenital Contracture Syndrome 2
Skeletal muscle atrophy, Ventricular septal defect, Micrognathia, Dilated cardiomyopathy, Respira... OMIM:607598
Orofaciodigital Syndrome Xviii
Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Preaxial polydactyly, Genu va... OMIM:617927
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Decreased fertility, Obesity, Mitral valve prolapse, Hypogonadism, Abnormal testis morphology ORPHA:2233
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Polyhydramnios, Congestive heart failure, Nephrocalcinosis, Atrial septal defect, Failure to thri... ORPHA:500533
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Atrial septal defect, Crossed fused renal ectopia, Overlapping toe, Hypoplastic right heart, Post... OMIM:618142
Cardiomyopathy, Familial Restrictive, 6
Hepatomegaly, Pulmonary insufficiency, Tricuspid regurgitation, Death in infancy, Hydrops fetalis... OMIM:619433
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... ORPHA:251510
Tetraamelia Syndrome 1
Hypoplasia of the fallopian tube, Renal agenesis, Absent external genitalia, Asplenia, Peripheral... OMIM:273395
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Mitochondrial Complex I Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Death in infancy, Dicarboxylic aciduria, Microvesicular hepatic st... OMIM:611126
Congenital Disorder Of Glycosylation, Type Iil
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Peau d'orange, Ventricular septal defe... OMIM:614576
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Death in early adulthood, Right axis deviation, Elevated jugular venous pressure, Congestive hear... OMIM:255160
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Hepatomegaly, Death in infancy, Dilated cardiomyopathy, Tachypnea, Respirat... OMIM:614299
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
Skeletal muscle atrophy, Vaginal fistula, Myopathy ORPHA:2597
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Skeletal muscle atrophy, Thoracic scoliosis, Death in infancy, Nemaline bod... OMIM:620278
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Hypertension, Arrh... ORPHA:1345
Refsum Disease, Classic
Short fourth metatarsal, Cardiomegaly, Congestive heart failure, Cardiomyopathy, Arrhythmia, Abno... OMIM:266500
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Diabetes mellitus, Pneumonia, Cough, Nonproductive cough, Dyspnea, Tachypne... ORPHA:36238
Pulmonary Alveolar Microlithiasis
Bronchitis, Nonproductive cough, Tachypnea, Gonadal calcification, Oxygen desaturation on exertio... ORPHA:60025
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Pancreatic fibrosis, Micromelia, Postaxial hand polydactyly, Hepatic fibrosis, Pulm... OMIM:200995
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Ovarian Dysgenesis 5
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... OMIM:617690
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Postaxial polydactyly, Septate vagina, Lateral clavicle hook, Complete atrioventricular canal def... OMIM:617925
Sandestig-Stefanova Syndrome
Rocker bottom foot, Muscular ventricular septal defect, Respiratory failure, Perimembranous ventr... OMIM:618804
Laryngotracheal Angioma
Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough ORPHA:137935
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Hepatomegaly, Hyperactivity, Tremor, Hyperinsulinemia, Myopa... ORPHA:363400
Cardiomyopathy, Dilated, 2E
Death in infancy, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Death in childhood OMIM:619492
Erdheim-Chester Disease
Renal insufficiency, Hypogonadotropic hypogonadism, Abnormal pericardium morphology, Dysuria, Ret... ORPHA:35687
Gm1 Gangliosidosis
Recurrent respiratory infections, Ventricular septal defect, Camptodactyly of finger, Premature b... ORPHA:354
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Transient neutropenia, Large for gestational age, Tibial bowing, Spina bifida occulta, Long hallu... ORPHA:500095
Noonan Syndrome 3
Ventricular septal defect, Polyhydramnios, Cryptorchidism, Mitral valve prolapse, Pulmonic stenos... OMIM:609942
Bardet-Biedl Syndrome 17
Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Dextrocardia, Polyuri... OMIM:615994
Cardiomyopathy, Dilated, 1S
Bicuspid aortic valve, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Single umb... OMIM:613426
Seizures, Benign Familial Infantile, 3
Cyanosis, Apnea OMIM:607745
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Absence of pubertal development, Primar... OMIM:618078
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Skeletal muscle atrophy, Hip contracture, Interphalangeal joint contracture... ORPHA:1145
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Premature birth, Nonimmune hydrops fetalis, Cardiomegaly, I... OMIM:618838
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
Lethal Congenital Contracture Syndrome 10
Thoracic scoliosis, Stiff neck, Overriding aorta, Torticollis, Ventricular septal defect, Microgn... OMIM:617022
Perrault Syndrome 4
Premature ovarian insufficiency, Increased circulating gonadotropin level, Secondary amenorrhea, ... OMIM:615300
Hyperparathyroidism, Transient Neonatal
Hyperparathyroidism, Short femur, Metaphyseal spurs, Polyhydramnios, Unilateral renal agenesis, F... OMIM:618188
Transaldolase Deficiency
Hepatomegaly, Pancytopenia, Ventricular septal defect, Small for gestational age, Splenomegaly, M... OMIM:606003
Increased waist to hip ratio, Obesity OMIM:601665
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... OMIM:601214
Double Outlet Left Ventricle
Double outlet left ventricle, Cyanosis, Ventricular septal defect, Cardiomegaly, Cryptorchidism, ... ORPHA:3427
Thanatophoric Dysplasia, Type Ii
Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Wide-cupped costochondral junctio... OMIM:187601
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Dysmenorrhea, Ambiguous genitalia, male, Decreased serum estradiol, Dec... ORPHA:90796
Syndactyly, Septate vagina, Short toe, Hand polydactyly, Congenital finger flexion contractures, ... OMIM:114150
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Exaggerated startle response, Limb joint contracture, Tremor, Cryptorchidism, Respiratory failure... OMIM:620327
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Proximal muscle weakness in upper limbs, Skeletal muscle atrophy, Proximal muscle weakness in low... OMIM:613954
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Distal amyotrophy, Respiratory distress OMIM:619099
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... ORPHA:731
Seizures, Benign Familial Infantile, 1
Cyanosis, Apnea OMIM:601764
46,Xy Sex Reversal 11
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Primary amenorrhea, ... OMIM:273250
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Cryptorchidism, Hypoplasia of penis, Obesity, Aplasia/Hypoplasia of the testes ORPHA:3055
Perrault Syndrome 6
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Primary amenorrhea, Second... OMIM:617565
Hydrops Fetalis, Nonimmune
Congestive heart failure, Hydrops fetalis, Nonimmune hydrops fetalis, Anemia OMIM:236750
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Death in infancy, Bicuspid aortic valve, Proximal placement of thumb, Congenital diaphragmatic he... ORPHA:1120
Acromesomelic Dysplasia 3
Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Hypergonadotropic hypogonadism, Tarsal ... OMIM:609441
American Trypanosomiasis
Hepatomegaly, Edema, Periorbital edema, Splenomegaly, Myocarditis, Congestive heart failure, Card... ORPHA:3386
Roifman Syndrome
Hip contracture, Short metacarpal, Hepatomegaly, Noncompaction cardiomyopathy, Single transverse ... OMIM:616651
Joubert Syndrome 18
Occipital encephalocele, Bowing of the long bones, Trident pelvis, Ventricular septal defect, Pos... OMIM:614815
Neurooculocardiogenitourinary Syndrome
Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Paten... OMIM:618652
Bifid sternum, Congenital diaphragmatic hernia, Sirenomelia ORPHA:63260
Mckusick-Kaufman Syndrome
Urethral stricture, Finger syndactyly, Failure to thrive, Multicystic kidney dysplasia, Ventricul... ORPHA:2473
Smith-Lemli-Opitz Syndrome
Bifid scrotum, Small scrotum, Micromelia, Proximal placement of thumb, 2-3 toe cutaneous syndacty... OMIM:270400
X-Linked Centronuclear Myopathy
Respiratory distress, Decreased fetal movement, Respiratory failure requiring assisted ventilatio... ORPHA:596
Hepatomegaly, Enlarged ovaries, Overgrowth of external genitalia, Labial hypertrophy, Long penis,... ORPHA:508
Helsmoortel-Van Der Aa Syndrome
Decreased response to growth hormone stimulation test, Enuresis nocturna, Pineal cyst, Premature ... OMIM:615873
Beta-Thalassemia Major
Extramedullary hematopoiesis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism, Hepatomegaly,... ORPHA:231214
Martsolf Syndrome 1
Recurrent respiratory infections, Short metacarpal, Hypogonadotropic hypogonadism, Cardiac arrest... OMIM:212720
Igg4-Related Kidney Disease
Renal interstitial immunoglobulin deposits, Abnormal lung morphology, Sterile pyuria, Pedal edema... ORPHA:449395
Chromosome 18Q Deletion Syndrome
Recurrent respiratory infections, Toe syndactyly, Overlapping toe, Rocker bottom foot, Proximal p... OMIM:601808
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... OMIM:614837
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Bifid scrotum, Penoscrotal hypospadias, Cryptorchidism, Glandular hypospadias, Respiratory insuff... ORPHA:456328
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... OMIM:601494
Orofaciodigital Syndrome Xvii
Short middle phalanx of the 2nd finger, Partial duplication of thumb phalanx, Central Y-shaped me... OMIM:617926
Histiocytosis-Lymphadenopathy Plus Syndrome