Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Lethal Congenital Contracture Syndrome 3 |
|
Neonatal death, Skeletal muscle atrophy, Multiple joint contractures, Arthrogryposis multiplex co... |
OMIM:611369 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death, Congenital diaphragmatic hernia |
OMIM:226735 |
Pyknoachondrogenesis |
|
Stillbirth |
OMIM:265880 |
Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy |
OMIM:615092 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death |
OMIM:257100 |
Cardiomyopathy, Dilated, 1R |
|
Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact... |
OMIM:613424 |
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Death in infancy, Nemaline bodies, Increased variability in muscle fiber diameter, Death in child... |
OMIM:620265 |
Kennedy Disease |
|
Skeletal muscle atrophy, Decreased fertility, Gait disturbance, Type II diabetes mellitus, Erecti... |
ORPHA:481 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Myofiber disarray, Dilated cardiomyopathy, Death in adolescence, Cardiomyocyte hypertrophy, Left ... |
OMIM:612158 |
3-Methylglutaconic Aciduria, Type V |
|
Noncompaction cardiomyopathy, Diaphragmatic eventration, Hypospadias, Ataxia, Postnatal growth re... |
OMIM:610198 |
Lethal Congenital Contracture Syndrome 11 |
|
Flexion contracture, Elbow flexion contracture, Distal arthrogryposis, Pulmonary hypoplasia, Camp... |
OMIM:617194 |
Microphthalmia, Syndromic 9 |
|
Congenital diaphragmatic hernia, Agenesis of pulmonary vessels, Atrial septal defect, Diaphragmat... |
OMIM:601186 |
Microphthalmia, Syndromic 12 |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Cryptorchidism, Hypoplastic left atri... |
OMIM:615524 |
Spinocerebellar Ataxia 32 |
|
Azoospermia, Testicular atrophy, Infertility, Ataxia |
OMIM:613909 |
Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy, Progressive cerebellar ataxia |
ORPHA:276183 |
Tonne-Kalscheuer Syndrome |
|
Broad-based gait, Short stature, Hypospadias, Congenital diaphragmatic hernia, Cryptorchidism, Ab... |
OMIM:300978 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Cardi... |
OMIM:235200 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Neonatal death |
OMIM:273680 |
Arthrogryposis Multiplex Congenita 6 |
|
Death in infancy, Increased variability in muscle fiber diameter, Death in childhood, Neonatal de... |
OMIM:619334 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Decreased female lib... |
ORPHA:52901 |
Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Inability to walk, Short stature, Pulmonary hypoplasia, Ataxia |
OMIM:618174 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Pulmonary hypoplasia... |
OMIM:614096 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Postnatal growth retardation, Flexion contracture, Pulmonary hypoplasia, Left ventricular hypertr... |
OMIM:616733 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Abnormality of the diaphragm, Pulmonary hypoplasia, Congenital diaphragmatic hernia, Testicular a... |
OMIM:601163 |
Serkal Syndrome |
|
Abnormal penis morphology, Ventricular septal defect, Hypospadias, Congenital diaphragmatic herni... |
ORPHA:139466 |
Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
Congenital Myopathy 1B, Autosomal Recessive |
|
Skeletal muscle atrophy, Recurrent respiratory infections, Facial palsy, Centrally nucleated skel... |
OMIM:255320 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusion, T lymphocytopen... |
OMIM:619313 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Skeletal muscle atrophy, Spinal muscular atrophy, Flexion contracture, Increased variability in m... |
OMIM:616867 |
Hypogonadism, Male |
|
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy |
OMIM:241100 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Calf muscle hypertrophy, Limb muscle weakness, Testicular atrophy, Decreased fertility |
OMIM:313200 |
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Arthrogryposis multiplex congenita, Unilateral wrist flexion contracture, Pulmonary hypoplasia, K... |
OMIM:616531 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Atrial septal defect, Intrauterine growth retardation, Hypoplastic spleen, Patent foramen ovale |
ORPHA:89844 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:308700 |
Wolfram Syndrome 1 |
|
Sideroblastic anemia, Diabetes mellitus, Diabetes insipidus, Ataxia, Megaloblastic anemia, Growth... |
OMIM:222300 |
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
Hip contracture, Scapular winging, Ankle flexion contracture, Flexion contracture, Elbow flexion ... |
OMIM:617468 |
Fetal Akinesia Deformation Sequence |
|
Multiple joint contractures, Camptodactyly of finger, Akinesia, Cryptorchidism, Generalized amyot... |
ORPHA:994 |
Bone Marrow Failure Syndrome 5 |
|
Short stature, Pure red cell aplasia, Erythroid hypoplasia, Growth delay, Hypogonadism, Pulmonary... |
OMIM:618165 |
Matthew-Wood Syndrome |
|
Congenital diaphragmatic hernia, Cryptorchidism, Abnormal lung morphology, Aplasia/Hypoplasia of ... |
ORPHA:2470 |
Mirage Syndrome |
|
Hypospadias, Short stature, Adrenal hypoplasia, Hypergonadotropic hypogonadism, Cryptorchidism, T... |
OMIM:617053 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Cardiomyopathy, Pulmonary hypoplasia, Intrauterine growth retardation |
OMIM:619003 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Decreased muscle mass, Diabetes mellitus, Hypogonadotropic hypogonadism, Testicular... |
ORPHA:465508 |
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Neonatal death, Rhabdomyolysis |
OMIM:602199 |
Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Ataxia, Cr... |
OMIM:308750 |
Nphp3-Related Meckel-Like Syndrome |
|
Abnormality of the pancreas, Abnormal biliary tract morphology, Pulmonary hypoplasia, Abnormal li... |
ORPHA:3032 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Truncus arteriosus, Malformation of the hepatic ductal plate, Situs inversus totali... |
OMIM:615415 |
Polyendocrine-Polyneuropathy Syndrome |
|
Decreased testicular size, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Ataxia, ... |
ORPHA:453533 |
Lethal Congenital Contracture Syndrome 1 |
|
Neonatal death, Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Hypoplasia of the mu... |
OMIM:253310 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Skeletal muscle atrophy, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Facial ... |
OMIM:157640 |
Renal Hypodysplasia/Aplasia 4 |
|
Pulmonary hypoplasia |
OMIM:619887 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Abnormal morphology of female internal genitalia, Pulmonary hypoplasia, Congenital diaphragmatic ... |
ORPHA:2141 |
Renal Hypodysplasia/Aplasia 2 |
|
Pulmonary hypoplasia |
OMIM:615721 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Pulmonary hypoplasia, Abnormal lung lobation, Camptodactyly of finger |
ORPHA:2631 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Hypospadias, Ventricular septal defect, Congenital diaphragmatic hernia, Ovotestis, Pulmonary art... |
OMIM:611812 |
Multiple Pterygium Syndrome, Lethal Type |
|
Akinesia, Flexion contracture, Amyoplasia, Hypoplastic heart, Pulmonary hypoplasia, Intrauterine ... |
OMIM:253290 |
Meacham Syndrome |
|
Bicuspid aortic valve, Blind vagina, Scimitar anomaly, Atrial septal defect, Diaphragmatic eventr... |
OMIM:608978 |
Pericardial And Diaphragmatic Defect |
|
Bicuspid aortic valve, Congenital diaphragmatic hernia, Abnormal heart morphology, Aplasia of the... |
ORPHA:2847 |
1Q41Q42 Microdeletion Syndrome |
|
Hypergonadotropic hypogonadism, Short stature, Congenital diaphragmatic hernia, Cryptorchidism, H... |
ORPHA:250999 |
Scimitar Syndrome |
|
Abnormal lung morphology, Hypoplasia of the diaphragm, Pulmonary artery hypoplasia, Atrial septal... |
ORPHA:185 |
Renal Tubular Dysgenesis |
|
Tetralogy of Fallot, Pulmonary hypoplasia |
ORPHA:3033 |
Stormorken Syndrome |
|
Howell-Jolly bodies, Short stature, Asplenia, Thrombocytopenia, Myopathy, Hypoplastic spleen, Anemia |
OMIM:185070 |
Polyendocrine-Polyneuropathy Syndrome |
|
Short stature, Anterior pituitary hypoplasia, Hypogonadotropic hypogonadism, Ataxia, Postnatal gr... |
OMIM:616113 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Spinal muscular atrophy, Secundum atrial septal defect, Flexion contracture, Increased variabilit... |
OMIM:616866 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Premature ovarian insufficiency, Hypospadias, Decreased response to growth hormone stimulation te... |
ORPHA:96179 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Recurrent respiratory infections, Mesenteric cyst, Ventricular septal defect, Hypospadias, Parach... |
OMIM:618316 |
Severe Congenital Nemaline Myopathy |
|
Skeletal muscle atrophy, Hypospadias, Facial palsy, Flexion contracture, Facial diplegia, Pulmona... |
ORPHA:171430 |
Marden-Walker Syndrome |
|
Decreased muscle mass, Hypospadias, Dextrocardia, Postnatal growth retardation, Cryptorchidism, C... |
OMIM:248700 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Congenital diaphragmatic hernia, Flexion contracture, Abnormal lung lobation, Abnormal heart morp... |
OMIM:263210 |
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
|
Pulmonary hypoplasia, Adrenal hypoplasia |
OMIM:613124 |
Primary Pulmonary Hypoplasia |
|
Recurrent respiratory infections, Dextrocardia, Abnormal hemidiaphragm morphology, Secundum atria... |
ORPHA:2257 |
Cardiac-Urogenital Syndrome |
|
Bifid scrotum, Congenital diaphragmatic hernia, Scimitar anomaly, Atrial septal defect, Micropeni... |
OMIM:618280 |
Congenital Diaphragmatic Hernia |
|
Aplasia/Hypoplasia of the diaphragm, Pulmonary hypoplasia, Congenital diaphragmatic hernia |
ORPHA:2140 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Pancytopenia, Growth delay, Bone marrow hypocellularity, Cirrhosis, Testicular atrophy, Thrombocy... |
OMIM:613987 |
Lethal Congenital Contracture Syndrome 10 |
|
Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Increased variability in ... |
OMIM:617022 |
Pagod Syndrome |
|
Short stature, Congenital diaphragmatic hernia, Situs inversus totalis, Abnormality of the spleen... |
ORPHA:991 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B |
|
Pulmonary hypoplasia |
OMIM:615228 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Ventricular septal defect, Hypospadias, Cardiomegaly, Flexion contracture, Micropenis, Pleural ef... |
OMIM:616897 |
Multiple Pterygium Syndrome, X-Linked |
|
Flexion contracture, Amyoplasia, Pulmonary hypoplasia, Hypoplastic heart, Intrauterine growth ret... |
OMIM:312150 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Skeletal muscle atrophy, Hypoplasia of penis, Small scrotum, Short stature, Camptodactyly of fing... |
ORPHA:2990 |
Spondylospinal Thoracic Dysostosis |
|
Arthrogryposis multiplex congenita, Pulmonary hypoplasia |
OMIM:601809 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the hepatic ductal plate,... |
OMIM:208540 |
Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Abnormality of the liver, Neutropenia, Hep... |
ORPHA:699 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Neonatal death, Endocardial fibroelastosis |
OMIM:276822 |
Pentalogy Of Cantrell |
|
Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, Congenital diaphr... |
ORPHA:1335 |
Myotonic Dystrophy 1 |
|
Hypogonadism, Facial diplegia, Cholelithiasis, Testicular atrophy |
OMIM:160900 |
Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Akinesia, Cardiomegaly, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Pulmona... |
OMIM:608013 |
Truncus Arteriosus |
|
Pulmonary edema, Ventricular septal defect, Abnormal heart valve morphology, Anomalous origin of ... |
ORPHA:3384 |
Gracile Bone Dysplasia |
|
Asplenia, Micropenis, Short stature, Hypoplastic spleen |
OMIM:602361 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Skeletal muscle atrophy, Short stature, Pulmonary hypoplasia |
ORPHA:1486 |
Kagami-Ogata Syndrome |
|
Hepatomegaly, Ventricular septal defect, Diastasis recti, Splenomegaly, Flexion contracture, Pulm... |
OMIM:608149 |
Teebi Hypertelorism Syndrome 1 |
|
Ventricular septal defect, Short stature, Hydrocele testis, Bicornuate uterus, Pulmonary hypoplas... |
OMIM:145420 |
Thanatophoric Dysplasia |
|
Atrial septal defect, Intrauterine growth retardation, Pulmonary hypoplasia, Disproportionate sho... |
ORPHA:2655 |
Alg3-Cdg |
|
Abnormality of the endocrine system, Macroglossia, Cardiomyopathy, Pulmonary hypoplasia, Arthrogr... |
ORPHA:79321 |
Congenital Myopathy 22B, Severe Fetal |
|
Waddling gait, Hip contracture, Scapular winging, Hepatomegaly, Limb joint contracture, Shoulder ... |
OMIM:620369 |
Aarskog-Scott Syndrome |
|
Short stature, Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorc... |
OMIM:305400 |
Pallister-Hall-Like Syndrome |
|
Anterior hypopituitarism, Micropenis, Short stature, Pulmonary hypoplasia |
OMIM:241800 |
Genitopatellar Syndrome |
|
Hip contracture, Small scrotum, Short stature, Cryptorchidism, Knee flexion contracture, Pulmonar... |
ORPHA:85201 |
Distal Triplication 15Q |
|
Abnormal external genitalia, Flexion contracture, Abnormal heart morphology, Hydrocele testis, Pu... |
ORPHA:314588 |
Congenital Myopathy 9B, Proximal, With Minicore Lesions |
|
Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Cryptorchidism,... |
OMIM:618823 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Ventricular septal defect, Short stature, Congenital diaphragmatic hernia, Supernumerary nipple, ... |
OMIM:612530 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Bifid scrotum, Short stature, Hypospadias, Cryptorchidism, Penoscrotal transposition, Small thena... |
OMIM:619148 |
Absence Of The Pulmonary Artery |
|
Recurrent respiratory infections, Abnormal hemidiaphragm morphology, Cardiomegaly, Recurrent pneu... |
ORPHA:980 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Short stature, Hypospadias, Congenital diaphragmatic hernia, Weaknes... |
OMIM:265000 |
Achondrogenesis Type 2 |
|
Short stature, Pulmonary hypoplasia |
ORPHA:93296 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Posterolateral diaphragmatic hernia, Accessory spleen, Adrenal hypoplasia, Morgagni diaphragmatic... |
OMIM:613177 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Severe short stature, Cryptorchidism, Flexion contracture, Abnormal heart morphology, Pulmonary h... |
ORPHA:1865 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Hypospadias, Ventricular septal defect, Adrenal hy... |
OMIM:214100 |
Congenital Myopathy 9A |
|
Cryptorchidism, EMG: myopathic abnormalities, Short stature, Akinesia |
OMIM:618822 |
Distal Deletion 15Q |
|
Decreased serum insulin-like growth factor 1, Bicuspid aortic valve, Mitral atresia, Short statur... |
ORPHA:1596 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Splenomegaly, Intrauterine growth retardation, Pulmonary hypoplasia |
ORPHA:3035 |
Lesch-Nyhan Syndrome |
|
Choreoathetosis, Short stature, Megaloblastic anemia, Testicular atrophy |
OMIM:300322 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Cardiomegaly, Pneumothorax, Glandular hypospadias, Pulmonary hypoplasia, Limb hypertonia |
OMIM:620306 |
Lethal Congenital Contracture Syndrome 9 |
|
Elbow extension contracture, Centrally nucleated skeletal muscle fibers, Flexion contracture, Inc... |
OMIM:616503 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Ataxia, Interstitial emphysema, Bronchiectasis, Dysmetria, Knee flexion contracture, Rectovaginal... |
OMIM:619708 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Cryptorchidism, Severe short stature, Pulmonary hypoplasia, Disproportionate short-limb short sta... |
OMIM:224410 |
Caudal Regression Syndrome |
|
Decreased muscle mass, Maternal diabetes, Cryptorchidism, Pulmonary hypoplasia, Ambiguous genitalia |
ORPHA:3027 |
X-Linked Intellectual Disability, Snyder Type |
|
Decreased muscle mass, Short stature, Hypospadias, Cryptorchidism, Inability to walk, Unsteady ga... |
ORPHA:3063 |
Steinert Myotonic Dystrophy |
|
Skeletal muscle atrophy, Decreased response to growth hormone stimulation test, Non-medullary thy... |
ORPHA:273 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Ventricular septal defect, Pancreatic fibrosis, Short stature, Pulmonary hypoplasia, Ambiguous ge... |
OMIM:615503 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Ambiguous genitalia, Ventricular septal defect, Pulmonary hypoplasia |
OMIM:617895 |
Odontochondrodysplasia 1 |
|
Recurrent respiratory infections, Mesomelic short stature, Short stature, Pulmonary hypoplasia |
OMIM:184260 |
Tetrasomy 5P |
|
Postnatal growth retardation, Recurrent respiratory infections, Aplasia/Hypoplasia of the abdomin... |
ORPHA:3309 |
Czeizel-Losonci Syndrome |
|
Posterolateral diaphragmatic hernia, Dextrocardia, Aplasia of the left hemidiaphragm, Hypoplastic... |
ORPHA:2437 |
Agnathia-Otocephaly Complex |
|
Secundum atrial septal defect, Pulmonary hypoplasia, Situs inversus totalis |
OMIM:202650 |
Tarp Syndrome |
|
Broad-based gait, Extramedullary hematopoiesis, Cryptorchidism, Pulmonary hypoplasia, Atrial sept... |
ORPHA:2886 |
Congenital Tracheomalacia |
|
Ventricular septal defect, Pneumonia, Cardiomegaly, Partial anomalous pulmonary venous return, Pn... |
ORPHA:95430 |
Acro-Renal-Mandibular Syndrome |
|
Congenital diaphragmatic hernia, Abnormal lung lobation, Uterus didelphys, Bicornuate uterus, Pul... |
ORPHA:958 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Congenital diaphragmatic hernia, Hydrocele testis, Choreoathetosis, Pulmonary hypoplasia, Atrial ... |
OMIM:614080 |
Atelosteogenesis, Type Ii |
|
Pulmonary hypoplasia |
OMIM:256050 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Dextrocardia, Atrioventricular canal defect, Pulmonary hypoplasia, Transposition of the great art... |
OMIM:314390 |
Thoracoabdominal Syndrome |
|
Hypospadias, Congenital diaphragmatic hernia, Pulmonary hypoplasia, Transposition of the great ar... |
OMIM:313850 |
Nephronophthisis 2 |
|
Situs inversus totalis, Pulmonary hypoplasia |
OMIM:602088 |
Larsen-Like Syndrome, Lethal Type |
|
Pulmonary hypoplasia |
OMIM:245650 |
Neu-Laxova Syndrome |
|
Skeletal muscle atrophy, External genital hypoplasia, Flexion contracture, Hypogonadism, Muscular... |
ORPHA:2671 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Arthrogryposis multiplex congenita, Pulmonary hypoplasia |
OMIM:236500 |
Meier-Gorlin Syndrome 7 |
|
Ventricular septal defect, Short stature, Hypospadias, Complete atrioventricular canal defect, Cr... |
OMIM:617063 |
Alg9-Cdg |
|
Hepatomegaly, Torticollis, Ventricular septal defect, Rhizomelia, Hypoplasia of the musculature, ... |
ORPHA:79328 |
Mosaic Trisomy 1 |
|
Hepatic agenesis, Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic he... |
ORPHA:1692 |
Fryns Syndrome |
|
Hypospadias, Congenital diaphragmatic hernia, Cryptorchidism, Abnormal cardiac septum morphology,... |
ORPHA:2059 |
Ogden Syndrome |
|
Bicuspid aortic valve, Maternal diabetes, Cardiomegaly, Secundum atrial septal defect, Microvesic... |
OMIM:300855 |
Renal Hypodysplasia/Aplasia 1 |
|
Bicornuate uterus, Pulmonary hypoplasia, Vaginal atresia, Primary amenorrhea |
OMIM:191830 |
Meckel Syndrome, Type 6 |
|
Abnormal internal genitalia, Absent gallbladder, Bilobed right lung, Cystic liver disease, Bile d... |
OMIM:612284 |
Short-Rib Thoracic Dysplasia 12 |
|
Hepatomegaly, Ventricular septal defect, Atelectasis, Splenomegaly, Periportal fibrosis, Hypoplas... |
OMIM:269860 |
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
|
Intrauterine growth retardation, Arthrogryposis multiplex congenita, Pulmonary hypoplasia |
ORPHA:86822 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Recurrent respiratory infections, Ventricular septal defect, Aortopulmonary window, Hypoplastic l... |
ORPHA:99050 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Hepatomegaly, Ventricular septal defect, Cryptorchidism, Aortopulmonary window, Pulmonary artery ... |
OMIM:620025 |
Mosaic Trisomy 16 |
|
Ventricular septal defect, Hypospadias, Maternal diabetes, Abnormal lung morphology, Abnormal hea... |
ORPHA:1708 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Periportal fibrosis, Hepatic f... |
OMIM:263200 |
Meckel Syndrome 14 |
|
Pneumothorax, Hepatic fibrosis, Pulmonary hypoplasia, Aplasia of the uterus, Ambiguous genitalia,... |
OMIM:619879 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Hepatic fibrosis, Short stature, Pulmonary hypoplasia, Hypospadias |
OMIM:614091 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangiocarcinoma, Spontaneous pneumothorax, Cholangitis, Portal hypertension, Biliary hyperplas... |
ORPHA:731 |
Thanatophoric Dysplasia, Type I |
|
Pulmonary hypoplasia, Lethal short-limbed short stature, Disproportionate short-limb short stature |
OMIM:187600 |
Diaphanospondylodysostosis |
|
Abnormal liver lobulation, Intrauterine growth retardation, Disproportionate short-trunk short st... |
OMIM:608022 |
Fryns Syndrome |
|
Bifid scrotum, Ectopic pancreatic tissue, Ventricular septal defect, Hypospadias, Cryptorchidism,... |
OMIM:229850 |
Platyspondylic Dysplasia, Torrance Type |
|
Pulmonary hypoplasia, Disproportionate short-limb short stature |
ORPHA:85166 |
Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Pulmonary hypoplasia, Extrapulmonary sequest... |
OMIM:200995 |
Meckel Syndrome, Type 1 |
|
Accessory spleen, Camptodactyly of finger, Adrenal hypoplasia, External genital hypoplasia, Asple... |
OMIM:249000 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Short stature, Adrenal hypoplasia, Flexion contracture, Mild intrauterine growth retardation, Abn... |
OMIM:308050 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Postnatal growth retardation, Contracture of the distal i... |
ORPHA:83617 |
Atelosteogenesis Type I |
|
Neonatal short-trunk short stature, Abnormal pancreatic duct morphology, Rhizomelia, Pulmonary hy... |
ORPHA:1190 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Abnormal right hemidiaphragm morphology, Multiple joint contractures, Short stature, Abnormal hea... |
ORPHA:536471 |
Congenital Myopathy 17 |
|
Respiratory tract infection, Myopathy, Distal arthrogryposis, Pulmonary hypoplasia, Diaphragmatic... |
OMIM:618975 |
Renal Agenesis |
|
Absent vas deferens, Ventricular septal defect, Pulmonary hypoplasia, Aplasia/hypoplasia of the u... |
ORPHA:411709 |
Smith-Lemli-Opitz Syndrome |
|
Bifid scrotum, Small scrotum, Abnormal lung lobation, Atrial septal defect, Micropenis, Hepatic s... |
OMIM:270400 |
Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Ambiguous genitalia, Rhizomelia, Ventricular septal defect, Short stature, C... |
ORPHA:818 |
Tetraamelia Syndrome 1 |
|
Hypoplasia of the fallopian tube, Congenital diaphragmatic hernia, Absent external genitalia, Asp... |
OMIM:273395 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Jaundice, Pulmonary hypoplasia, Hepatic periportal necrosis, Hepatic steatosis |
OMIM:231680 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Neonatal short-limb short stature, Rhizomelia, Pulmonary hypoplasia |
OMIM:151210 |
Orofaciodigital Syndrome Type 4 |
|
Recurrent respiratory infections, Severe short stature, Monorchism, Camptodactyly of finger, Prim... |
ORPHA:2753 |
Oligomeganephronia |
|
Secundum atrial septal defect, Pulmonary venous occlusion, Pulmonary hypoplasia, Congenital diaph... |
ORPHA:2260 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Recurrent respiratory infections, Polycystic liver disease, Pancreatic fibrosis, Short stature, P... |
OMIM:208500 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Torticollis, Multiple joint contractures, Repeated pneumothoraces, Postnatal growth retardation, ... |
ORPHA:536467 |
Fetal Akinesia Deformation Sequence 1 |
|
Hip contracture, Decreased muscle mass, Elbow contracture, Camptodactyly of finger, Cryptorchidis... |
OMIM:208150 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Hepatomegaly, Ventricular septal defect, Short stature, Interphalangeal joint contracture of fing... |
ORPHA:96334 |
Fontaine Progeroid Syndrome |
|
Atrial septal defect, Small scrotum, Bicuspid aortic valve, Short stature, Absent nipple, Hypopla... |
OMIM:612289 |
Otopalatodigital Syndrome Type 2 |
|
Abnormal heart valve morphology, Camptodactyly of finger, Hypospadias, Abnormal cardiac septum mo... |
ORPHA:90652 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Ambiguous genitalia, Ventricular septal defect, Pancreatic fibrosis, Hepatic fibrosis, Pulmonary ... |
OMIM:263520 |
Stuve-Wiedemann Syndrome 1 |
|
Short stature, Elbow flexion contracture, Pulmonary arterial medial hypertrophy, Knee flexion con... |
OMIM:601559 |
Tetrasomy 9P |
|
Absent gallbladder, Pericarditis, Myositis, Dextrocardia, Cryptorchidism, Jaundice, Biliary atres... |
ORPHA:3310 |
Acrorenal-Mandibular Syndrome |
|
Absent nipple, Congenital diaphragmatic hernia, Elbow flexion contracture, Uterus didelphys, Bico... |
OMIM:200980 |
Esophageal Atresia |
|
Recurrent respiratory infections, Abnormal external genitalia, Ventricular septal defect, Materna... |
ORPHA:1199 |
Greenberg Dysplasia |
|
Hepatomegaly, Rhizomelia, Abnormal lung lobation, Hepatic calcification, Hepatosplenomegaly, Seve... |
OMIM:215140 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Atrial septal defect, Micropenis, Pulmonary hypoplasia, Congenital diaphragmatic hernia |
OMIM:616546 |
Dpagt1-Cdg |
|
Hepatomegaly, Ataxia, Akinesia, Inability to walk, Flexion contracture, Pulmonary hypoplasia, Cam... |
ORPHA:86309 |
Vacterl With Hydrocephalus |
|
Cryptorchidism, Intrauterine growth retardation, Pulmonary hypoplasia, Abnormal fallopian tube mo... |
ORPHA:3412 |
Atelosteogenesis Type Ii |
|
Rhizomelia, Elbow flexion contracture, Rhizomelic arm shortening, Pulmonary hypoplasia, Camptodac... |
ORPHA:56304 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Absent gallbladder, Septate vagina, Complete atrioventricular canal defect, Uterus didelphys, Pul... |
OMIM:617925 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Recurrent respiratory infections, Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect... |
ORPHA:99125 |
Joubert Syndrome 21 |
|
Splenomegaly, Ataxia, Pulmonary hypoplasia |
OMIM:615636 |
Osteogenesis Imperfecta |
|
Abnormal endocardium morphology, Rhizomelia, Short stature, Ataxia, Flexion contracture, Mitral v... |
ORPHA:666 |
Microcephaly-Micromelia Syndrome |
|
Intrauterine growth retardation, Pulmonary hypoplasia |
OMIM:251230 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Ambiguous genitalia, Cryptorchidism, Rhizomelia, Pulmonary hypoplasia |
OMIM:616300 |
Mckusick-Kaufman Syndrome |
|
Cryptorchidism, Transverse vaginal septum, Hydrometrocolpos, Rectovaginal fistula, Pulmonary hypo... |
OMIM:236700 |
Achondroplasia |
|
Neonatal short-limb short stature, Rhizomelia, Pulmonary hypoplasia |
OMIM:100800 |
Renal Tubular Dysgenesis |
|
Pulmonary hypoplasia |
OMIM:267430 |
Raine Syndrome |
|
Arthrogryposis multiplex congenita, Short stature, Pulmonary hypoplasia |
OMIM:259775 |
Schinzel-Giedion Syndrome |
|
Streak ovary, Hypospadias, Myeloid leukemia, Recurrent pneumonia, Central hypothyroidism, Abnorma... |
ORPHA:798 |
Penile Agenesis |
|
Ambiguous genitalia, Ventricular septal defect, Maternal diabetes, Cryptorchidism, Bilateral lung... |
ORPHA:49 |
Fraser Syndrome 1 |
|
Hypospadias, Cryptorchidism, Abnormal heart morphology, Abnormal thymus morphology, Bicornuate ut... |
OMIM:219000 |
Ulbright-Hodes Syndrome |
|
Abnormal penis morphology, Abnormal external genitalia, Enlarged labia minora, Maternal diabetes,... |
ORPHA:3404 |
Achondrogenesis, Type Ia |
|
Disproportionate short-trunk short stature, Pulmonary hypoplasia |
OMIM:200600 |
Restrictive Dermopathy |
|
Multiple joint contractures, Hypospadias, Dextrocardia, Camptodactyly of finger, Aplasia/Hypoplas... |
ORPHA:1662 |
Neu-Laxova Syndrome 1 |
|
Ventricular septal defect, Bifid uterus, Cryptorchidism, Transposition of the great arteries, Pul... |
OMIM:256520 |
Genitopatellar Syndrome |
|
Hip contracture, Small scrotum, Ventricular septal defect, Enlarged labia minora, Cryptorchidism,... |
OMIM:606170 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Aplasia of the vagina, Pulmonary hypoplasia, Aplasia of the uterus, Absent external genitalia |
OMIM:271520 |
Renal Agenesis, Bilateral |
|
Abnormal morphology of female internal genitalia, Pulmonary hypoplasia |
ORPHA:1848 |
Restrictive Dermopathy 1 |
|
Limb joint contracture, Hypospadias, Adrenal hypoplasia, Flexion contracture, Pulmonary hypoplasi... |
OMIM:275210 |
Blomstrand Lethal Chondrodysplasia |
|
Neonatal short-limb short stature, Rhizomelia, Pulmonary hypoplasia |
ORPHA:50945 |
Fraser Syndrome |
|
Hypoplasia of penis, Small scrotum, Hypospadias, Cryptorchidism, Abnormal lung lobation, Bicornua... |
ORPHA:2052 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Peritonitis, Pulmonary hypoplasia |
OMIM:619351 |
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Abnormality of female external genitalia, Vaginal fistula, Pulmonary hypoplasia, Persistent cloaca |
ORPHA:1112 |
Pallister-Killian Syndrome |
|
Small scrotum, Congenital diaphragmatic hernia, Flexion contracture, Camptodactyly of 2nd-5th fin... |
OMIM:601803 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hypoplasia of penis, Urethrovaginal fistula, Cryptorchidism, Congenital hepatic fibrosis, Uterus ... |
ORPHA:93271 |
Microphthalmia, Syndromic 1 |
|
Bicuspid aortic valve, Hypospadias, Cryptorchidism, Growth delay, Pulmonary hypoplasia, Camptodac... |
OMIM:309800 |
Homozygous Familial Hypercholesterolemia |
|
Abnormal tendon morphology, Tendon xanthomatosis, Hepatic steatosis, Myocardial steatosis |
ORPHA:391665 |
Craniofacial Microsomia 1 |
|
Pulmonary hypoplasia, Tetralogy of Fallot, Ventricular septal defect, Hypoplasia of facial muscul... |
OMIM:164210 |