Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
dedicator of cytokinesis 1
Synonyms:
b2b3190Clo,  9130006G06Rik,  Dock180,  D630004B07Rik

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Dock1 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Dock1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Indomethacin Embryofetopathy
Ventricular septal defect, Premature birth, Cardiomyopathy, Multicystic kidney dysplasia, Atrial ... ORPHA:1909
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Ventricular septal defect, Tetralogy of Fallot, Pulmonic stenosis OMIM:601127
Myopathy, Distal, With Rimmed Vacuoles
Skeletal muscle atrophy, Z-band streaming, Internally nucleated skeletal muscle fibers, Facial pa... OMIM:617158
Atrial Septal Defect 2
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect OMIM:607941
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Renal hypoplasia, Ventricular septal defect, Micrognathia, Truncus arteriosus, Renal cyst, Mesome... OMIM:228940
Genitopalatocardiac Syndrome
Hypospadias, Ventricular septal defect, Micrognathia, Double outlet right ventricle, Renal cyst, ... OMIM:231060
Congenital Alveolar Capillary Dysplasia
Bicuspid aortic valve, Ventricular septal defect, Hydronephrosis, Asplenia, Annular pancreas, Atr... ORPHA:210122
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Underdeveloped nasal alae, Ventricular septal defect, Truncus arteriosus, Short distal phalanx of... OMIM:601355
Hereditary Myopathy With Early Respiratory Failure
Necrotizing myopathy, Restrictive ventilatory defect, Muscle fiber hypertrophy, Skeletal muscle a... ORPHA:178464
14Q24.1Q24.3 Microdeletion Syndrome
Ventricular septal defect, Truncus arteriosus, Abnormal heart morphology, Short nose, Prominent n... ORPHA:401935
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Truncus arteriosus, Coarctation of aorta, Patent ductus arteriosus, Transp... OMIM:612474
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Z-band streaming, Autophagic vacuoles, Internally nucleated skeletal muscle fibers, Rimmed vacuol... OMIM:618655
Thymic Aplasia With Fetal Death
Ureteral agenesis, Abnormality of the endocrine system, Truncus arteriosus, Renal agenesis OMIM:274210
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Pelvic girdle muscle weakness, Abnormal respiratory system physiology, Respiratory insufficiency,... ORPHA:266
Gne Myopathy
Abnormal right hemidiaphragm morphology, Lower limb amyotrophy, Hip flexor weakness, Shoulder gir... ORPHA:602
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Proximal muscle weakness in lower limbs, Proximal upper limb amyotrophy, Rimmed vacuoles, Muscula... OMIM:601954
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Proximal muscle weakness in lower limbs, Muscle fiber necrosis, Calf muscle hypertrophy, Increase... OMIM:618848
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Underdeveloped nasal alae, Abnormal aortic morphology, Ventricular septal defect, Renal agenesis,... ORPHA:2516
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Respiratory insufficiency due to muscle weakness, Increased variability in muscle fiber diameter,... OMIM:300717
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Ventricular septal defect, Tetralogy of Fallot, Hypoplastic right heart, Micrognathia OMIM:601348
Ritscher-Schinzel Syndrome 1
Hypospadias, Ventricular septal defect, Hydronephrosis, Depressed nasal bridge, Micrognathia, Dou... OMIM:220210
Cranioacrofacial Syndrome
Ventricular septal defect, Dupuytren contracture, Pulmonic stenosis OMIM:122850
Congenital Heart Defects, Multiple Types, 5
Dilated cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Double outlet right ven... OMIM:617912
Fetal Parvovirus Syndrome
Hypertrophic cardiomyopathy, Ascites, Anemia, Increased nuchal translucency, Thrombocytopenia, Hy... ORPHA:295
8P23.1 Duplication Syndrome
Ventricular septal defect, Adrenal insufficiency, Hydronephrosis, Wide nose, Pulmonic stenosis, T... ORPHA:251076
Ventricular Septal Defect 1
Ventricular septal defect, Atrial septal defect, Pulmonic stenosis OMIM:614429
Cayler Cardiofacial Syndrome
Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus OMIM:125520
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Truncus arteriosus, Double outlet right ventricle, Coarct... OMIM:217095
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Upper limb undergrowth, Nonimmune hydrops fetalis, Polyhydramnios, Adrenal hypoplasia, Anteverted... OMIM:613124
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Ventricular septal defect, Abnormal aortic morphology, Abnormal tricuspid valve morphology, Anemi... ORPHA:3405
Renal-Hepatic-Pancreatic Dysplasia 2
Hypertrophic cardiomyopathy, Cystic renal dysplasia, Truncus arteriosus, Asplenia, Situs inversus... OMIM:615415
Microphthalmia, Syndromic 9
Truncus arteriosus, Single ventricle, Patent ductus arteriosus, Ventricular septal defect, Microg... OMIM:601186
Chromosome 22Q11.2 Deletion Syndrome, Distal
Underdeveloped nasal alae, Truncus arteriosus, Malar flattening OMIM:611867
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Hypospadias, Bicuspid aortic valve, Dysplastic tricuspid valve, Patent ductus arteriosus, Misalig... OMIM:265380
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Pelvic girdle muscle weakness, Skeletal muscle atrophy, Axial muscle atrophy, Achilles tendon con... ORPHA:254361
Spinal Muscular Atrophy, Infantile, James Type
Hip contracture, Respiratory insufficiency, Increased variability in muscle fiber diameter, Dista... OMIM:619042
Transaldolase Deficiency
Biventricular hypertrophy, Edema, Coarctation of aorta, Anemia, Hepatosplenomegaly, Atrial septal... ORPHA:101028
Congenital Heart Defects, Multiple Types, 6
Complete atrioventricular canal defect, Ventricular septal defect, Double outlet right ventricle,... OMIM:613854
Inclusion Body Myositis
Abnormal muscle fiber morphology, Ragged-red muscle fibers, Skeletal muscle atrophy, Quadriceps m... ORPHA:611
Oculopharyngodistal Myopathy 2
Weakness of facial musculature, EMG: myopathic abnormalities, Rimmed vacuoles, Increased endomysi... OMIM:618940
Nonaka Myopathy
EMG: myopathic abnormalities, Rimmed vacuoles, Deposits immunoreactive to beta-amyloid protein, D... OMIM:605820
Cleft-Limb-Heart Malformation Syndrome
Truncus arteriosus OMIM:215850
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Vascular ring, Ventricular septal defect, Broad nasal tip, Depressed nasal bridge, Hydrocele test... OMIM:601927
Myopathy, Distal, 5
Myopathy, Facial palsy, Rimmed vacuoles, Distal amyotrophy, Muscle fiber splitting OMIM:617030
Fetal Minoxidil Syndrome
Ventricular septal defect, Depressed nasal bridge, Cryptorchidism, Micrognathia ORPHA:1918
Bronchopulmonary Dysplasia
Wheezing, Hyperoxemia, Central apnea, Abnormal respiratory system physiology, Tracheobronchomalac... ORPHA:70589
Emanuel Syndrome
Renal hypoplasia, Ventricular septal defect, Renal agenesis, Truncus arteriosus, Micrognathia, Br... OMIM:609029
Robinow Syndrome
Short nose, Micropenis, Anteverted nares, Webbed penis, Ventricular septal defect, Micrognathia, ... ORPHA:97360
Congenital Disorder Of Glycosylation, Type Ik
Micrognathia, Nonimmune hydrops fetalis, Cardiomyopathy, Splenomegaly, Hypogonadism, Abnormality ... OMIM:608540
Muscular Dystrophy, Congenital, Merosin-Positive
Myopathy, Respiratory insufficiency due to muscle weakness, Facial palsy, Shoulder girdle muscle ... OMIM:609456
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Bicuspid aortic valve, Double outlet right ventricle, Patent ductus arteriosus, Bilateral renal a... OMIM:618845
Anemia, Congenital Dyserythropoietic, Type Iv
Hypertrophic cardiomyopathy, Erythroid hyperplasia, Anemia, Splenomegaly, Reticulocytosis, Hydrop... OMIM:613673
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal upper limb amyotrophy, Myopathy, Pelvic girdle muscle weakness, Proximal lower limb amyo... OMIM:609115
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Pelvic girdle muscle weakness, Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Quad... OMIM:254110
Ring Chromosome 8 Syndrome
Hydronephrosis, Abnormality of the ureter, Short nose, Polyhydramnios, Anteverted nares ORPHA:1450
Double Outlet Right Ventricle
Ventricular septal defect, Hypoparathyroidism, Truncus arteriosus, Depressed nasal bridge, Double... ORPHA:3426
Corneal Dystrophy, Fuchs Endothelial, 3
Edema OMIM:613267
Stankiewicz-Isidor Syndrome
Hypospadias, Prominent nose, Pineal cyst, Ventricular septal defect, Truncus arteriosus, Ureteral... OMIM:617516
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, ... OMIM:618719
Recombinant Chromosome 8 Syndrome
Ventricular septal defect, Hydronephrosis, Depressed nasal bridge, Micrognathia, Double outlet ri... OMIM:179613
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Myopathy, Skeletal muscle atrophy, Congenital muscular dystrophy, Increased variability in muscle... OMIM:613204
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Internally nucleated skeletal muscle fibers, Quadriceps muscle atrophy, Proximal muscle weakness ... ORPHA:206549
Rowley-Rosenberg Syndrome
Right ventricular hypertrophy, Pulmonary arterial hypertension, Reduced subcutaneous adipose tiss... OMIM:268500
Spinal Muscular Atrophy, Type I
Proximal amyotrophy, Proximal muscle weakness in lower limbs, Ventricular septal defect, Atrial s... OMIM:253300
Myopathy, Myofibrillar, 5
Muscle fiber splitting, Muscle fiber cytoplasmatic inclusion bodies, Myofibrillar myopathy, Respi... OMIM:609524
Tibial Muscular Dystrophy
Peroneal muscle atrophy, Proximal muscle weakness in lower limbs, Myopathy, Increased muscle lipi... ORPHA:609
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Atrioventricular canal defect, Coarctation of aorta, Hypoplastic left ... OMIM:615779
Cardiac Valvular Defect, Developmental
Hydronephrosis, Tricuspid atresia, Mitral valve prolapse, Arteria lusoria, Edema, Mitral stenosis... OMIM:212093
Cardiomyopathy, Familial Restrictive, 6
Restrictive cardiomyopathy, Hydrops fetalis, Ascites, Pulmonic stenosis OMIM:619433
Mulibrey Nanism
Pericardial constriction, Depressed nasal bridge, Ascites, Hypoplastic frontal sinuses, Wide nose... OMIM:253250
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Proximal muscle weakness in lower limbs, Shoulder flexion contracture, Skeletal muscle atrophy, S... OMIM:619566
Hydrops Fetalis
Nonimmune hydrops fetalis, Pericardial effusion, Ascites, Abnormality of the urinary system, Abno... ORPHA:1041
Sonoda Syndrome
Ventricular septal defect, Depressed nasal bridge OMIM:270460
Alpha-B Crystallin-Related Late-Onset Myopathy
Autophagic vacuoles, Facial diplegia, Respiratory insufficiency due to muscle weakness, EMG: myop... ORPHA:399058
Tubular Aggregate Myopathy
Type 2 muscle fiber atrophy, Muscle fiber tubular inclusions, EMG: myopathic abnormalities, Incre... ORPHA:2593
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Respiratory insufficiency, Weakness of facial musculature, Internally nucleated skeletal muscle f... OMIM:618654
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Skeletal muscle fibrosis, Rimmed vacuoles, Increased variabilit... ORPHA:34516
Welander Distal Myopathy
Rimmed vacuoles, Distal amyotrophy OMIM:604454
Diffuse Neonatal Hemangiomatosis
Ascites, Premature birth, Anemia, Patent ductus arteriosus, Polyhydramnios, Renal hypoplasia/apla... ORPHA:2123
Postsynaptic Congenital Myasthenic Syndromes
Restrictive ventilatory defect, Skeletal muscle atrophy, Weakness of the intrinsic hand muscles, ... ORPHA:98913
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Angulated muscle fibers, Weakness of facial musculature, Shoulder girdle muscle weakness, Scapula... OMIM:619477
Acitretin/Etretinate Embryopathy
Conotruncal defect, Micrognathia, Aplasia/Hypoplasia of the maxilla, Aplasia/hypoplasia involving... ORPHA:40366
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Pelvic girdle muscle weakness, Achilles tendon contracture, Scapular winging, Quadriceps muscle w... OMIM:603689
Truncus Arteriosus
Truncus arteriosus, Abnormal coronary artery morphology, Hypoplasia of the thymus, Patent ductus ... ORPHA:3384
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Ventricular septal defect, Hydronephrosis, Micrognathia, Edema, Decreased... OMIM:607598
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Hypospadias, Ventricular septal defect, Hydronephrosis, Micrognathia... OMIM:616897
Craniostenosis, Sagittal, With Congenital Heart Disease, Mental Deficiency, And Mandibular Ankylosis
Micrognathia, Abnormal heart morphology, Micropenis, Cryptorchidism, Microphallus, Trismus OMIM:218450
Chime Syndrome
Depressed nasal ridge, Ventricular septal defect, Hydronephrosis, Aplasia/Hypoplasia of the phala... ORPHA:3474
Lethal Congenital Contracture Syndrome 10
Ventricular septal defect, Micrognathia, Fetal akinesia sequence, Hypoplasia of the thymus, Cardi... OMIM:617022
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Muscle fiber splitting, Muscular dystrophy, EMG: myopathic abnormalities, Increased variability i... OMIM:253601
Heterotaxy, Visceral, 8, Autosomal
Ventricular septal defect, Double outlet right ventricle, Atrial situs ambiguous, Hypoplastic lef... OMIM:617205
Burn-Mckeown Syndrome
Bilateral choanal atresia, Short nose, Prominent nasal bridge, Wide nasal bridge, Abnormal cardia... ORPHA:1200
Testicular Anomalies With Or Without Congenital Heart Disease
Testicular dysgenesis, Micropenis, Tetralogy of Fallot, Perineal hypospadias, Cryptorchidism, Mic... OMIM:615542
Adams-Oliver Syndrome 6
Renal hypoplasia, Ventricular septal defect, Truncus arteriosus, Foot oligodactyly OMIM:616589
Cortical Blindness, Retardation, And Postaxial Polydactyly
Short nose, Microretrognathia OMIM:218010
Central Core Disease Of Muscle
Central core regions in muscle fibers, Ankle flexion contracture, Skeletal muscle atrophy, Weakne... OMIM:117000
Distal Myopathy, Welander Type
Myopathy, Distal upper limb amyotrophy, EMG: myopathic abnormalities, Rimmed vacuoles, Intrinsic ... ORPHA:603
Infantile Sialic Acid Storage Disease
Ascites, Nephrotic syndrome, Premature birth, Vacuolated lymphocytes, Cardiomegaly, Splenomegaly,... OMIM:269920
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Hypospadias, Fetal akinesia sequence, Microp... OMIM:618815
Myopathy, Tubular Aggregate, 1
Proximal amyotrophy, Myopathy, Type 2 muscle fiber atrophy, Weakness of the intrinsic hand muscle... OMIM:160565
Tricuspid Atresia
Ventricular septal defect, Tricuspid atresia, Hypoplasia of right ventricle, Persistent left supe... ORPHA:1209
Achondrogenesis
Micrognathia, Short nose, Polyhydramnios, Thickened nuchal skin fold, Anteverted nares, Micromeli... ORPHA:932
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Renal hypoplasia, Ventricular septal defect, Micrognathia, Depressed nasal bridge, Premature birt... ORPHA:2256
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Weakness of facial musculature... ORPHA:457050
Epidermolysis Bullosa With Diaphragmatic Hernia
Congenital diaphragmatic hernia OMIM:226735
Van Esch-O'Driscoll Syndrome
Ventricular septal defect, Increased circulating gonadotropin level, Atrial septal defect, Pulmon... OMIM:301030
Myofibrillar Myopathy 11
Z-band streaming, Generalized amyotrophy, Shoulder girdle muscle atrophy, EMG: myopathic abnormal... OMIM:619178
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Pericardial effusion, Edema, Anemia, Facial edema, Varicose veins, Atr... OMIM:617300
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Hypospadias, Ventricular septal defect, Depressed nasal bridge, Double outlet right ventricle, Wi... OMIM:618316
Microphthalmia, Syndromic 12
Ventricular septal defect, Hypoplastic left atrium, Broad nasal tip, Micrognathia, Wide nasal bri... OMIM:615524
Adult-Onset Nemaline Myopathy
Myopathy, Increased muscle lipid content, Respiratory insufficiency due to muscle weakness, EMG: ... ORPHA:171442
Phenobarbital Embryopathy
Hypospadias, Aplasia/Hypoplasia of fingers, Abnormal mitral valve morphology, Mandibular prognath... ORPHA:1919
Achondrogenesis Type 1A
Micrognathia, Short nose, Polyhydramnios, Thickened nuchal skin fold, Short foot, Short palm, Ant... ORPHA:93299
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Proximal muscle weakness in lower limbs, Myopathy, Increased variability in muscle fiber diameter ORPHA:1878
Asbestos Intoxication
Wheezing, Hypoxemia, Restrictive ventilatory defect, Atelectasis, Interlobular septal thickening,... ORPHA:2302
Distal Myopathy, Tateyama Type
Weakness of the intrinsic hand muscles, Calf muscle hypoplasia, EMG: myopathic abnormalities, Int... ORPHA:488650
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect OMIM:178370
Hb Bart'S Hydrops Fetalis
Preeclampsia, Pericarditis, Anemia, Abnormal hemoglobin, Polyhydramnios, Splenomegaly, Oligohydra... ORPHA:163596
Achondrogenesis Type 1B
Micrognathia, Short nose, Polyhydramnios, Thickened nuchal skin fold, Short foot, Anteverted nare... ORPHA:93298
Structural Heart Defects And Renal Anomalies Syndrome
Interrupted aortic arch, Ventricular septal defect, Truncus arteriosus, Tricuspid atresia, Persis... OMIM:617478
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Hydronephrosis, Hydroureter, Pulmonic stenosis OMIM:264140
Hydrops Fetalis, Nonimmune
Nonimmune hydrops fetalis, Anemia, Hydrops fetalis OMIM:236750
Nemaline Myopathy 2
Skeletal muscle atrophy, Foot dorsiflexor weakness, Weakness of facial musculature, Limb muscle w... OMIM:256030
Myopathy, Scapulohumeroperoneal
Skeletal muscle atrophy, Wrist drop, Achilles tendon contracture, Facial palsy, Centrally nucleat... OMIM:616852
Glycogen Storage Disease Iv
Ascites, Edema, Decreased fetal movement, Tubulointerstitial fibrosis, Cardiomyopathy, Polyhydram... OMIM:232500
22Q11.2 Duplication Syndrome
Interrupted aortic arch, Depressed nasal ridge, Ventricular septal defect, Hydronephrosis, Microg... ORPHA:1727
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Hypoplastic nasal tip, Micrognathia, Persistent left superior vena cava, Double outlet right vent... ORPHA:3304
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Myopathy, Respiratory insufficiency due to muscle weakness, Facial palsy, Respiratory distress, T... OMIM:300580
Distal Monosomy 19P13.3
Hypoplasia of the maxilla, Ventricular septal defect, Tricuspid valve prolapse, Pulmonary valve a... ORPHA:96129
Dysplastic Cortical Hyperostosis
Abnormality of the urinary system, Limb undergrowth, Polyhydramnios, Splenomegaly, Hydrops fetalis ORPHA:2204
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis, Myopathy, Respiratory distress ORPHA:91130
Chondrodysplasia, Blomstrand Type
Micrognathia, Premature birth, Malar flattening, Short ribs, Polyhydramnios, Micromelia, Hydrops ... OMIM:215045
Emanuel Syndrome
Renal hypoplasia, Ventricular septal defect, Micrognathia, Truncus arteriosus, Premature birth, D... ORPHA:96170
Congenital Pulmonary Lymphangiectasia
Chylopericardium, Ascites, Pulmonic stenosis, Splenomegaly, Pleural effusion, Hydrops fetalis ORPHA:2414
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Ciliary dyskinesia, Bronchiectasis, Chronic sinusitis, Recurrent p... OMIM:615294
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Hydronephrosis, Duplicated collecting system OMIM:163850
14Q11.2 Microdeletion Syndrome
Ventricular septal defect, Micrognathia, Depressed nasal bridge, Short nose, Patent ductus arteri... ORPHA:261120
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Skeletal muscle atrophy, Respiratory insufficiency, Increased variability i... ORPHA:238329
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Double outlet right ventricle, Abnormal heart morphology, Coarctation of aorta, Patent ductus art... OMIM:618164
Mesoaxial Hexadactyly And Cardiac Malformation
Ventricular septal defect, Torticollis, Patent ductus arteriosus, Pulmonic stenosis, Atrial septa... OMIM:249670
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Myopathy, Triceps weakness, Generalized amyotrophy, Cough, Left ventricular hypertrophy, Muscular... ORPHA:86812
Heterotaxy, Visceral, 4, Autosomal
Dextrocardia, Ventricular septal defect, Atrioventricular canal defect, Right aortic arch, Ectopi... OMIM:613751
Hereditary Continuous Muscle Fiber Activity
Congenital diaphragmatic hernia, Type 1 muscle fiber predominance ORPHA:972
Neuralgic Amyotrophy
Scapular winging, Acrocyanosis, Respiratory insufficiency ORPHA:2901
Fetal Trimethadione Syndrome
Hypospadias, Ventricular septal defect, Micrognathia, Depressed nasal bridge, Short nose, Transpo... ORPHA:1913
Eng-Strom Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology, Camptodactyly of finger ORPHA:1937
Klippel-Trénaunay Syndrome
Ascites, Edema, Abnormal tricuspid valve morphology, Hematuria, Patent ductus arteriosus, Atrial ... ORPHA:90308
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Myopathy, Rimmed vacuoles, Limb-girdle muscular dystrophy, Abnormal morphology of the abdominal m... OMIM:615424
Nuchal Bleb, Familial
Fetal cystic hygroma, Hydrops fetalis OMIM:257350
Bethlem Myopathy 2
Scapular winging, Myopathy, Increased variability in muscle fiber diameter, Flexion contracture OMIM:616471
Adams-Oliver Syndrome 4
Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus, Short toe OMIM:615297
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Myopathy, Ragged-red muscle fibers, Upper limb amyotrophy, Rimmed vacuoles, Increased variability... OMIM:616924
Neuraminidase Deficiency
Cherry red spot of the macula, Ascites, Vacuolated lymphocytes, Bone-marrow foam cells, Cardiomeg... OMIM:256550
Pulmonic Stenosis And Deafness
Ventricular hypertrophy, Pulmonic stenosis OMIM:178651
German Syndrome
Cor pulmonale, Arthrogryposis multiplex congenita, Lymphedema OMIM:231080
Renal Tubular Dysgenesis
Proximal tubulopathy, Premature birth, Polyhydramnios, Oligohydramnios, Tetralogy of Fallot, Mult... ORPHA:3033
Acute Interstitial Pneumonia
Reticulonodular pattern on pulmonary HRCT, Hypoxemia, Crackles, Bronchiectasis, Tachypnea, Interl... ORPHA:79126
Diamond-Blackfan Anemia 16
Atrial septal defect, Anemia, Pulmonic stenosis OMIM:617408
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Myopathy, Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Rimmed ... OMIM:612937
Scimitar Syndrome
Truncus arteriosus, Mitral atresia, Single ventricle, Patent ductus arteriosus, Anomalous pulmona... ORPHA:185
Right Atrial Isomerism
Dextrocardia, Complete atrioventricular canal defect, Ventricular septal defect, Right atrial iso... OMIM:208530
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hydronephrosis, Neutropenia, Leukopenia, Monocytosis, Hypoplasia of the thymus, Anemia, Wide nasa... OMIM:612541
Aortic Valve Disease 1
Bicuspid aortic valve, Ventricular septal defect, Double outlet right ventricle, Mitral atresia, ... OMIM:109730
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Centrally nucleated skeletal muscle fibers, Myopathy, Increased variability in muscle fiber diameter OMIM:618992
Oculopharyngodistal Myopathy 3
Weakness of facial musculature, Limb muscle weakness, Internally nucleated skeletal muscle fibers... OMIM:619473
Fanconi Anemia, Complementation Group O
Hydronephrosis, Abnormal heart morphology, Renal cyst, Stage 5 chronic kidney disease, Hypoplasia... OMIM:613390
Ulnar Agenesis And Endocardial Fibroelastosis
Aplasia of the ulna, Endocardial fibroelastosis, Hand oligodactyly, Hydrops fetalis OMIM:276822
Myopathy, Myosin Storage, Autosomal Dominant
Generalized limb muscle atrophy, Scapuloperoneal amyotrophy, EMG: myopathic abnormalities, Centra... OMIM:608358
Ciliary Dyskinesia, Primary, 39
Dextrocardia, Double outlet right ventricle OMIM:618254
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Nonimmune hydrops ... OMIM:619313
17Q21.31 Microduplication Syndrome
Micrognathia, Short nose, Malar flattening, Anteverted nares, Delayed puberty ORPHA:217340
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Pelvic girdle muscle weakness, Autophagic vacuoles, Respiratory insufficiency due to muscle weakn... OMIM:608423
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Ventricular septal defect, Hypoplasia of the thymus, Polyhydramnios, Enamel hypoplasia, Autoimmun... OMIM:243150
Diabetic Embryopathy
Abnormal aortic morphology, Ventricular septal defect, Ureteral duplication, Hydronephrosis, Micr... ORPHA:1926
Hernia, Anterior Diaphragmatic
Congenital diaphragmatic hernia OMIM:306950
Trisomy 1Q
Ventricular septal defect, Hydronephrosis, Depressed nasal bridge, Congenital megaureter, Wide no... ORPHA:261344
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Anteverted nares, Micrognathia, Short nose ORPHA:2015
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Respiratory insufficiency due to muscle weakness, Increased variability in muscle fiber diameter,... OMIM:300718
Heterotaxy, Visceral, 1, X-Linked
Dextrocardia, Horseshoe kidney, Ventricular septal defect, Renal agenesis, Asplenia, Mitral atres... OMIM:306955
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis, Skeletal muscle atrophy ORPHA:2400
Congenital Heart Defects, Multiple Types, 2
Myxomatous mitral valve degeneration, Bicuspid aortic valve, Ventricular septal defect, Abnormal ... OMIM:614980
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Pericardial effusion, Polyhydramnios, Pleural effusion, Generalized edema OMIM:618773
Cardiomyopathy, Familial Hypertrophic 27
Cardiomegaly, Hydrops fetalis OMIM:618052
Mosaic Trisomy 9
Dextrocardia, Horseshoe kidney, Ventricular septal defect, Hydronephrosis, Micrognathia, Asplenia... ORPHA:99776
Pallister-Hall-Like Syndrome
Micrognathia, Depressed nasal bridge, Abnormal heart morphology, Renal dysplasia, Short nose, Sho... OMIM:241800
Mucus Inspissation Of Respiratory Tract
Chronic sinusitis, Chronic pulmonary obstruction, Atelectasis, Bronchiectasis OMIM:253240
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Micrognathia, Hydroureter, Short nose, Patent ductus arteriosus, Polyhydramnios, Abnormality of t... ORPHA:2547
Diaphragmatic Hernia, Congenital
Congenital diaphragmatic hernia OMIM:142340
Diaphragmatic Hernia 3
Congenital diaphragmatic hernia OMIM:610187
Chromosome 16P13.3 Duplication Syndrome
Ventricular septal defect, Short nose, Malar flattening, Atrial septal defect, Bulbous nose, Shor... OMIM:613458
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair
Ventricular septal defect, Depressed nasal bridge, Abnormality of the kidney, Micrognathia OMIM:616901
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Micrognathia, Convex nasal ridge, Mesomelia, Abnormal mitral valve morphology ORPHA:1277
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Pelvic girdle muscle weakness, Facial palsy, Shoulder girdle muscle weakness, Rimmed vacuoles, Mu... OMIM:603511
Idiopathic Chronic Eosinophilic Pneumonia
Wheezing, Hypoxemia, Crackles, Generalized abnormality of skin, Asthma, Parenchymal consolidation... ORPHA:2902
Lymphatic Malformation 1
Nonimmune hydrops fetalis, Hypoplasia of lymphatic vessels, Urethral stricture, Prominent superfi... OMIM:153100
Ciliary Dyskinesia, Primary, 29
Decreased nasal nitric oxide, Ciliary dyskinesia, Atelectasis, Bronchiectasis OMIM:615872
Ullrich Congenital Muscular Dystrophy 2
Facial palsy, Congenital muscular dystrophy, Nocturnal hypoventilation, Increased variability in ... OMIM:616470
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Ventricular septal defect, Arthrogryposis multiplex congenita, Pulmonic stenosis, Atrial septal d... OMIM:614262
Lymphangiectasia, Pulmonary, Congenital
Pulmonary lymphangiectasia, Nonimmune hydrops fetalis, Depressed nasal bridge, Ascites, Edema, Ma... OMIM:265300
Maternal Phenylketonuria
Ventricular septal defect, Micrognathia, Double outlet right ventricle, Abnormal heart morphology... ORPHA:2209
Achondrogenesis, Type Ib
Edema, Malar flattening, Short ribs, Polyhydramnios, Breech presentation, Micromelia, Hydrops fet... OMIM:600972
Hypoplastic Left Heart Syndrome 2
Mitral atresia, Ventricular septal defect, Hypoplastic left heart, Aortic valve atresia OMIM:614435
Lymphatic Malformation 6
Micrognathia, Nonimmune hydrops fetalis, Ascites, Hydrocele testis, Edema, Chylothorax, Genital e... OMIM:616843
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Limb muscle weakness, Proximal ... OMIM:613954
Combined Oxidative Phosphorylation Deficiency 25
Depressed nasal bridge, Short nose, Wide nasal bridge, Vascular dilatation, Anteverted nares, Dec... OMIM:616430
Meconium Aspiration Syndrome
Wheezing, Hypoxemia, Atelectasis, Transient pulmonary infiltrates, Pneumothorax, Pulmonary arteri... ORPHA:70588
Acrocardiofacial Syndrome
Hypospadias, Ventricular septal defect, Truncus arteriosus, Coarctation of aorta, Mitral stenosis... ORPHA:2008
Heart Defects, Congenital, And Other Congenital Anomalies
Interrupted aortic arch, Ventricular septal defect, Ureteral duplication, Truncus arteriosus, Pan... OMIM:600001
Childhood-Onset Nemaline Myopathy
Generalized limb muscle atrophy, Increased muscle lipid content, Myopathy, Limb muscle weakness, ... ORPHA:171439
Trisomy 13
Ventricular septal defect, Abnormality of the ureter, Hydronephrosis, Malar flattening, Patent du... ORPHA:3378
Mmep Syndrome
Mandibular prognathia, Ventricular septal defect, Cryptorchidism ORPHA:3434
Nephronophthisis 16
Hypertrophic cardiomyopathy, Situs inversus totalis, Nephronophthisis, Patent ductus arteriosus, ... OMIM:615382
3C Syndrome
Hypospadias, Ventricular septal defect, Hydronephrosis, Depressed nasal bridge, Hypoplasia of pen... ORPHA:7
Image Syndrome
Hypospadias, Hydronephrosis, Depressed nasal bridge, Hypogonadism, Adrenal hypoplasia, Cryptorchi... ORPHA:85173
Partial Atrioventricular Septal Defect
Bicuspid aortic valve, Bacterial endocarditis, Partial atrioventricular canal defect, Double outl... ORPHA:1330
Congenital Diaphragmatic Hernia
Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the diaphragm, Hypoxemia, Respiratory dist... ORPHA:2140
Oculopharyngeal Muscular Dystrophy
Abnormal muscle fiber morphology, Myopathy, Ragged-red muscle fibers, Rimmed vacuoles ORPHA:270
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Ventricular septal defect, Tetralogy of Fallot, Peripheral pulmonary artery stenosis OMIM:617992
Ciliary Dyskinesia, Primary, 33
Ciliary dyskinesia, Bronchiectasis, Chronic rhinitis, Cough, Recurrent pneumonia, Atelectasis OMIM:616726
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Proximal muscle weakness in lower limbs, Internally nucleated skeletal muscle fibers, Proximal mu... OMIM:618138
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Abnormal mucociliary clearance, Atelectasis, Bronchiectasis OMIM:619466
Mitochondrial Complex I Deficiency, Nuclear Type 35
Elevated urinary 4-hydroxybutyric acid, Nonimmune hydrops fetalis, Cardiomyopathy, Lacticaciduria OMIM:619003
Tibial Muscular Dystrophy, Tardive
Muscular dystrophy, EMG: myopathic abnormalities, Rimmed vacuoles OMIM:600334
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Hand muscle weakness, Upper limb amyotrophy, Triceps weakness, Chronic pulmonary obstruction, Pro... ORPHA:437572
Multiminicore Myopathy
Proximal muscle weakness in lower limbs, Abnormal muscle fiber morphology, Myopathy, Minicore myo... ORPHA:598
Rigid Spine Muscular Dystrophy 1
Type 1 and type 2 muscle fiber minicore regions, Minicore myopathy, Generalized amyotrophy, Facia... OMIM:602771
Gm1-Gangliosidosis, Type I
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Depressed nasal ridge, Cherry red spot of th... OMIM:230500
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Abnormal aortic morphology, Ventricular septal defect, Micrognathia, Renal hypoplasia/aplasia, Te... ORPHA:1166
Alagille Syndrome 2
Renal hypoplasia, Peripheral pulmonary artery stenosis, Long nose, Renal tubular acidosis, Hematu... OMIM:610205
Cyanosis And Hepatic Disease
Dyspnea, Cyanosis OMIM:219400
Ciliary Dyskinesia, Primary, 20
Ciliary dyskinesia, Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance,... OMIM:615067
Congenital Muscular Dystrophy, Ullrich Type
Abnormal muscle fiber morphology, Torticollis, Generalized amyotrophy, EMG: myopathic abnormaliti... ORPHA:75840
Primary Ciliary Dyskinesia
Asplenia, Persistent left superior vena cava, Situs inversus totalis, Abnormal heart morphology, ... ORPHA:244
Femoral-Facial Syndrome
Underdeveloped nasal alae, Ventricular septal defect, Maternal diabetes, Truncus arteriosus, Rena... OMIM:134780
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Wheezing, Hypoxemia, Neonatal respiratory distress, Crackles, Tachypnea, Ground-glass opacificati... OMIM:610978
Myotubular Myopathy With Abnormal Genital Development
Centrally nucleated skeletal muscle fibers, Respiratory distress, Myopathy, Atelectasis OMIM:300219
Peroxisome Biogenesis Disorder 12A (Zellweger)
Prominent nose, Renal tubular dysfunction, Double outlet right ventricle, Decreased fetal movemen... OMIM:614886
Coffin-Siris Syndrome 10
Anteverted nares, Persistence of primary teeth, Ventricular septal defect OMIM:618506
Alpha-Thalassemia
Abnormal hemoglobin, Anemia, Cholelithiasis, Splenomegaly, Hypersplenism, Microcytic anemia, Hemo... ORPHA:846
X-Linked Centronuclear Myopathy
Weakness of facial musculature, Pneumonia, Respiratory distress, Type 1 fibers relatively smaller... ORPHA:596
Bowen Syndrome Of Multiple Malformations
Hypospadias, Abnormal heart morphology, Micrognathia OMIM:211200
Immunodeficiency 42
Hypoplasia of the thymus OMIM:616622
Prune Belly Syndrome
Urethral valve, Hydronephrosis, Congenital posterior urethral valve, Xerostomia, Abnormal heart m... OMIM:100100
Heart Defects-Limb Shortening Syndrome
Ventricular septal defect, Abnormal mitral valve morphology, Abnormal tricuspid valve morphology,... ORPHA:1354
Beaulieu-Boycott-Innes Syndrome
Carious teeth, Horseshoe kidney, Ventricular septal defect, Renal agenesis, Long nose, Patent duc... OMIM:613680
Sialidosis Type 2
Ascites, Splenomegaly, Nephropathy, Pedal edema, Hydrops fetalis ORPHA:87876
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Congenital diaphragmatic hernia, Telangiectasia of the skin, Cutaneous photosensitivity, Retinal ... ORPHA:438134
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Bronchogenic Cyst
Pneumonia, Cough, Abnormality of the diaphragm, Dyspnea, Abnormal pulmonary thoracic imaging find... ORPHA:2357
Waardenburg Syndrome Type 3
Acrocyanosis, Tracheomalacia, Atelectasis, Camptodactyly of finger ORPHA:896
Atrioventricular Septal Defect 5
Atrioventricular canal defect, Muscular ventricular septal defect OMIM:614474
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Anteverted nares, Short nose, Depressed nasal bridge, Retrognathia OMIM:614069
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Ventricular septal defect, Short nose, Prominent nasal bridge, Patent ductus arteriosus, Micropen... OMIM:613870
Congenital Enterovirus Infection
Myocarditis, Fetal ascites, Fetal distress, Leukocytosis, Neutropenia, Pericardial effusion, Leuk... ORPHA:292
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Macroglossia, Right ventricular hypertrophy, Achilles tendon contracture, Scapular winging, EMG: ... ORPHA:353
Pulmonary Blastoma
Dyspnea, Pulmonary infiltrates, Recurrent pneumonia, Cough ORPHA:64741
Cutis Laxa-Marfanoid Syndrome
Congenital diaphragmatic hernia, Emphysema, Flexion contracture ORPHA:171719
Apnea, Central Sleep
Cyanosis, Sleep apnea, Irregular respiration, Abnormal pattern of respiration OMIM:207720
Lethal Osteosclerotic Bone Dysplasia
Depressed nasal ridge, Micrognathia, Mandibular aplasia, Short nose, Retrognathia, Anteverted nares ORPHA:1832
Tetralogy Of Fallot
Cryptorchidism, Tetralogy of Fallot, Abnormal nasal morphology ORPHA:3303
Hypotonia, Infantile, With Psychomotor Retardation
Myopathy, Respiratory insufficiency due to muscle weakness, Increased variability in muscle fiber... OMIM:616816
Heterotaxy, Visceral, 2, Autosomal
Dextrocardia, Atrioventricular canal defect, Situs inversus totalis, Double outlet right ventricl... OMIM:605376
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Chronic sinusitis, Atelectasis OMIM:300455
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Ventricular septal defect, Depressed nasal bridge, Abnormal localization of kidney, Abnormal card... ORPHA:83473
Microgastria-Limb Reduction Defects Association
Cystic renal dysplasia, Horseshoe kidney, Hand oligodactyly, Asplenia, Phocomelia, Pelvic kidney,... OMIM:156810
Fetal Gaucher Disease
Abnormality of the spleen, Depressed nasal bridge, Fetal akinesia sequence, Decreased fetal movem... ORPHA:85212
Feingold Syndrome 2
Ventricular septal defect, Short thumb, Short middle phalanx of the 2nd finger, Short middle phal... OMIM:614326
Disproportionate Short Stature With Ptosis And Valvular Heart Lesions
Short lower limbs, Small hand, Pulmonic stenosis, Abnormal heart valve morphology, Short palm OMIM:126190
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Central core regions in muscle fibers, Muscular dystrophy OMIM:159050
Minicore Myopathy With External Ophthalmoplegia
Type 1 and type 2 muscle fiber minicore regions, Minicore myopathy, Skeletal muscle atrophy, Resp... OMIM:255320
Nemaline Myopathy 5
Proximal amyotrophy, Myopathy, Shoulder flexion contracture, Z-band streaming, Hip contracture, R... OMIM:605355
Infant Acute Respiratory Distress Syndrome
Hypoxemia, Pneumonia, Tachypnea, Cyanosis, Respiratory failure, Nasal flaring, Atelectasis ORPHA:70587
Non-Distal Trisomy 10Q
Micrognathia, Convex nasal ridge, Depressed nasal bridge, Abnormality of the urinary system, Shor... ORPHA:1695
Renal Hypodysplasia/Aplasia 3
Horseshoe kidney, Hydronephrosis, Renal agenesis, Renal dysplasia, Multicystic kidney dysplasia, ... OMIM:617805
Cardiomyopathy, Familial Hypertrophic, 21
Left ventricular hypertrophy, Mitral valve prolapse, Cardiomyopathy OMIM:614676
Recurrent Respiratory Papillomatosis
Wheezing, Stridor, Respiratory insufficiency, Tachypnea, Upper airway obstruction, Respiratory di... ORPHA:60032
Vacuolar Neuromyopathy
Shoulder girdle muscle weakness, Rimmed vacuoles, Muscular dystrophy, Centrally nucleated skeleta... OMIM:601846
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Congenital diaphragmatic hernia, Emphysema OMIM:614100
Congenital Primary Megaureter
Hydronephrosis, Abnormal penis morphology, Congenital megaureter, Nephrolithiasis, Recurrent urin... ORPHA:617
Maxillonasal Dysplasia, Binder Type
Depressed nasal bridge, Short columella, Short nose, Short distal phalanx of finger, Dental maloc... OMIM:155050
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Dehydration, Dicarboxylic aciduria, Pulmonic stenosis ORPHA:79159
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypospadias, Depressed nasal ridge, Short nose, Anteverted nares ORPHA:1355
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Bicuspid aortic valve, Ventricular septal defect, Persistent left superior vena cava, Abnormal he... ORPHA:477817
Fraser Syndrome 3
Micrognathia, Convex nasal ridge, Wide nose, Hypoplasia of the bladder, Short toe, Hydrops fetalis OMIM:617667
Aortic Arch Interruption
Bicuspid aortic valve, Ventricular septal defect, Truncus arteriosus, Abnormal heart morphology, ... ORPHA:2299
Burn-Mckeown Syndrome
Renal hypoplasia, Ventricular septal defect, Underdeveloped nasal alae, Micrognathia, Mandibular ... OMIM:608572
Boomerang Dysplasia
Decreased response to growth hormone stimulation test, Polyhydramnios, Aplasia/Hypoplasia of the ... ORPHA:1263
Ventricular Septal Defect 3
Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus OMIM:614432
Diamond-Blackfan Anemia 6
Macrocytic anemia, Ventricular septal defect, Micrognathia, Mitral valve prolapse, Increased mean... OMIM:612561
Congenital Multicore Myopathy With External Ophthalmoplegia
Muscle fiber hypertrophy, Abnormal skeletal muscle morphology, Skeletal muscle atrophy, Abnormal ... ORPHA:98905
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Patent ductus arteriosu... OMIM:604169
8p23.1 deletion syndrome
Congenital diaphragmatic hernia DECIPHER:39
Anemia, Congenital Dyserythropoietic, Type Ia
Erythroid hyperplasia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulocytosis, Macrocytic dy... OMIM:224120
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Wide nasal bridge, Bulbous nose, Dysplastic pulmonary valve, Anteverted nares, Precocious puberty OMIM:300958
Verheij Syndrome
Renal hypoplasia, Renal agenesis, Short nose, Renal cyst, Wide nasal bridge, Short 5th finger, Ab... OMIM:615583
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Abnormality of the urinary system, Maternal hypertension, Hydronephrosis ORPHA:2669
Cholesterol Pneumonia
Tachypnea, Cyanosis, Cough, Pneumonia OMIM:215030
Motor Neuropathy, Peripheral, With Dysautonomia
Cyanosis, Skeletal muscle atrophy OMIM:252320
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Increased intramyocellular lipid droplets, Increased variability in muscle fiber diameter OMIM:619065
Mcdonough Syndrome
Prominent nose, Ventricular septal defect, Micrognathia, Mandibular prognathia, Pulmonic stenosis... OMIM:248950
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Ventricular septal defect, Howell-Jolly bodies, Left superior vena cava draining directly to the ... OMIM:613759
Combined Oxidative Phosphorylation Deficiency 41
Nonimmune hydrops fetalis, Premature birth, Anemia, Cardiomegaly, Decreased circulating cortisol ... OMIM:618838
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydronephrosis, Atrioventricular canal defect, Urethral atresia, Absent radius, Transposition of ... OMIM:314390
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Neonatal respiratory distress, Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Incre... OMIM:616867
Linear Skin Defects With Multiple Congenital Anomalies 2
Short nose, Ventricular hypertrophy, Atrial septal defect, Tetralogy of Fallot OMIM:300887
Urofacial Syndrome 2
Hydronephrosis, Urinary urgency, Recurrent urinary tract infections, Vesicoureteral reflux, Enure... OMIM:615112
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Anemia, Splenomegaly, Anisoc... ORPHA:766
Hadziselimovic Syndrome
Renal hypoplasia, Ventricular septal defect, Ventricular hypertrophy, Prominent nasal bridge, Atr... OMIM:612946
Catel-Manzke Syndrome
Ventricular septal defect, Atrial septal defect, Malar flattening, Micrognathia ORPHA:1388
Tetralogy Of Fallot
Tetralogy of Fallot OMIM:187500
Feingold Syndrome Type 2
Ventricular septal defect, Short middle phalanx of finger, Short thumb ORPHA:391646
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Renal hypoplasia, Hydronephrosis, Renal agenesis, Abnormal heart morphology, Low hanging columell... OMIM:618494
Mental Retardation, X-Linked 91
Short foot, Short nose, Small hand, Short 5th finger OMIM:300577
Methimazole Embryofetopathy
Hypospadias, Ventricular septal defect, Abnormal aortic morphology, Coarctation of aorta, Polyhyd... ORPHA:1923
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Pulmonary lymphangiectasia, Ventricular septal defect, Hydronephrosis, Micrognathia, Ascites, Mal... OMIM:235255
Congenital Disorder Of Glycosylation, Type Il
Depressed nasal bridge, Pericardial effusion, Ascites, Edema, Decreased fetal movement, Short nos... OMIM:608776
Congenital Disorder Of Glycosylation, Type Iig
Hypospadias, Hydronephrosis, Micrognathia, Rhizomelia, Anemia, Wide nasal bridge, Small hand, Lef... OMIM:611209
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Ventricular septal defect, Atrial septal defect, Micrognathia OMIM:608227
Respiratory Distress Syndrome In Premature Infants
Neonatal respiratory distress, Tachypnea, Respiratory distress, Dyspnea, Atelectasis OMIM:267450
Achondrogenesis, Type Ia
Short clavicles, Depressed nasal bridge, Hypoplastic scapulae, Short nose, Short ribs, Polyhydram... OMIM:200600
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Serkal Syndrome
Hypospadias, Ventricular septal defect, Abnormal penis morphology, Renal agenesis, Pulmonic steno... ORPHA:139466
Dyssegmental Dysplasia, Silverman-Handmaker Type
Micrognathia, Abnormal heart morphology, Limb undergrowth, Spontaneous abortion, Wide nasal bridg... ORPHA:1865
Congenitally Uncorrected Transposition Of The Great Arteries
Interrupted aortic arch, Ventricular septal defect, Abnormal aortic arch morphology, Maternal dia... ORPHA:860
Xk Aprosencephaly Syndrome
Ventricular septal defect, Atrial septal defect, Abnormality of the nares, Polyhydramnios ORPHA:3469
Reticular Dysgenesis
Hypoplasia of the thymus, Lymphopenia, Congenital agranulocytosis, Leukopenia OMIM:267500
Sternum, Premature Obliteration Of Sutures Of
Micrognathia, Abnormal heart morphology, Premature sternal synostosis, Short sternum, Cryptorchidism OMIM:184800
Chronic Pneumonitis Of Infancy
Hypoxemia, Tachypnea, Ground-glass opacification, Cough, Respiratory distress, Cyanosis, Intercos... ORPHA:91359
Gaucher Disease, Perinatal Lethal
Micrognathia, Nonimmune hydrops fetalis, Depressed nasal bridge, Ascites, Premature birth, Decrea... OMIM:608013
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Hypospadias, Bicuspid aortic valve, Ventricular septal defect, Renal agenesis, Truncus arteriosus... ORPHA:508498
Chromosome 15Q26-Qter Deletion Syndrome
Hypospadias, Micrognathia, Short middle phalanx of finger, Wide nasal bridge, Micropenis, Abnorma... OMIM:612626
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Micrognathia, Delayed eruption of permanent teeth, Short distal phalanx of toe, Short nose, Atria... OMIM:619356
Myopathy, Congenital, Progressive, With Scoliosis
Depressed nasal ridge, Hydronephrosis, Micrognathia, Decreased fetal movement, Renal atrophy, Cry... OMIM:618578
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Hypospadias, Horseshoe kidney, Ventricular septal defect, Depressed nasal bridge, Mandibular prog... OMIM:619103
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Hypospadias, Ventricular septal defect, Hydronephrosis, Leukopenia, Double outlet right ventricle... OMIM:301056
Developmental Delay With Or Without Dysmorphic Facies And Autism
Renal hypoplasia, Hydronephrosis, Narrow nose, Depressed nasal bridge, Micrognathia, Coarctation ... OMIM:618454
Developmental And Epileptic Encephalopathy 96
Hydrops fetalis OMIM:619340
Fibrochondrogenesis 1
Depressed nasal bridge, Hypoplastic scapulae, Posterior vertebral hypoplasia, Rhizomelia, Short n... OMIM:228520
Tetraamelia Syndrome 2
Ventricular septal defect, Micrognathia, Hypoplastic pulmonary veins, Micropenis, Microretrognathia OMIM:618021
Posterior Urethral Valve
Hydronephrosis, Urinary retention, Urethral stenosis, Congenital posterior urethral valve, Unilat... ORPHA:93110
Seizures, Benign Familial Infantile, 3
Cyanosis, Apnea OMIM:607745
Mycophenolate Mofetil Embryopathy
Ventricular septal defect, Micrognathia, Coarctation of aorta, Bifid nose, Short palm, Ectopic ki... ORPHA:268249
16P13.11 Microduplication Syndrome
Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept... ORPHA:261243
Autosomal Recessive Amelia
Amelia, Micrognathia, Amelia involving the upper limbs, Polyhydramnios, Abnormal cardiac septum m... ORPHA:1027
Platyspondylic Dysplasia, Torrance Type
Depressed nasal bridge, Hypoplastic scapulae, Malar flattening, Polyhydramnios, Short foot, Short... ORPHA:85166
Myopathy, Congenital, With Fiber-Type Disproportion
Limb joint contracture, Respiratory insufficiency, Respiratory insufficiency due to muscle weakne... OMIM:255310
Vesicoureteral Reflux 3
Hydronephrosis, Hydroureter, Polyhydramnios, Vesicoureteral reflux OMIM:613674
Noonan Syndrome 12
Ventricular septal defect, Polyhydramnios, 11 pairs of ribs, Tetralogy of Fallot, Lymphopenia, Th... OMIM:618624
Alg9-Cdg
Hypoplastic nipples, Short nose, Abnormal left ventricular outflow tract morphology, Hypoplasia o... ORPHA:79328
Endocardial Fibroelastosis
Micrognathia, Endocardial fibroelastosis, Restrictive cardiomyopathy, Anterior hypopituitarism, C... ORPHA:2022
Rhizomelic Syndrome
Micrognathia, Rhizomelia, Pulmonic stenosis OMIM:268250
Renal Hypoplasia
Urethral valve, Hydronephrosis, Abnormality of the ureter, Premature birth, Pelvic kidney, Glomer... ORPHA:93101
Ohdo Syndrome
Micrognathia, Depressed nasal bridge, Short nose, Wide nasal bridge, Hypoplasia of teeth, Antever... OMIM:249620
Renal Caliceal Diverticuli-Deafness Syndrome
Hydronephrosis, Abnormality of the urinary system, Abnormality of the upper urinary tract, Hydrou... ORPHA:2838
Myopathy, Congenital Proximal, With Minicore Lesions
Minicore myopathy, Z-band streaming, Obstructive sleep apnea, Fatty replacement of skeletal muscl... OMIM:618823
Blomstrand Lethal Chondrodysplasia
Micrognathia, Depressed nasal bridge, Premature birth, Rhizomelia, Short nose, Coarctation of aor... ORPHA:50945
Cryptogenic Organizing Pneumonia
Wheezing, Hypoxemia, Bronchial breath sound, Crackles, Pneumothorax, Ground-glass opacification, ... ORPHA:1302
Heterotaxy, Visceral, 5, Autosomal
Dextrocardia, Renal hypoplasia, Ventricular septal defect, Ascending tubular aorta aneurysm, Uret... OMIM:270100
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Hypospadias, Renal hypoplasia, Micrognathia, Renal agenesis, Depressed nasal bridge, Short nose, ... ORPHA:171839
Gm1 Gangliosidosis
Depressed nasal ridge, Ventricular septal defect, Broad nasal tip, Depressed nasal bridge, Cherry... ORPHA:354
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Bicuspid aortic valve, Ventricular septal defect, Depressed nasal bridge, Abnormal heart morpholo... ORPHA:284169
Myopathy, Myofibrillar, 7
Shoulder flexion contracture, Z-band streaming, Type 2 muscle fiber predominance, Skeletal muscle... OMIM:617114
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Malar flattening, Delayed eruption of teeth, Ectopic kidney, Lymphedema, Ventricular septal defec... OMIM:235510
Seizures, Benign Familial Infantile, 1
Cyanosis, Apnea OMIM:601764
9q subtelomeric deletion syndrome
Anteverted nares, Abnormal heart morphology, Short nose DECIPHER:52
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Ventricular septal defect, Micrognathia, Depressed nasal bridge, Patent ductus arteriosus, Microp... OMIM:618142
Microcephaly-Capillary Malformation Syndrome
Ventricular septal defect, Right ventricular hypertrophy, Wide nose, Short nose, Atrial septal de... OMIM:614261
Absence Of The Pulmonary Artery
Truncus arteriosus, Abnormal heart morphology, Abnormal coronary artery morphology, Coarctation o... ORPHA:980
2p15-16.1 microdeletion syndrome
Hydronephrosis DECIPHER:70
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Rhiny
Anteverted nares, Short nose OMIM:180360
Polyvalvular Heart Disease Syndrome
Prominent nose, Micrognathia, Mitral valve prolapse, Pulmonic stenosis, Abnormal heart valve morp... ORPHA:228410
Muscular Dystrophy, Limb-Girdle, Type 1H
Centrally nucleated skeletal muscle fibers, Muscular dystrophy, Shoulder girdle muscle atrophy, C... OMIM:613530
Chromosome 14Q11-Q22 Deletion Syndrome
Ventricular septal defect, Micrognathia, Depressed nasal bridge, Wide nose, Short nose, Patent du... OMIM:613457
Hennekam Syndrome
Pulmonary lymphangiectasia, Horseshoe kidney, Depressed nasal bridge, Pericardial effusion, Ascit... ORPHA:2136
Teebi Hypertelorism Syndrome 1
Ventricular septal defect, Depressed nasal bridge, Short nose, Small hand, Wide nasal bridge, Atr... OMIM:145420
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Short nose, Abnormal cardiac septum morphology ORPHA:2370
Short Stature-Wormian Bones-Dextrocardia Syndrome
Dextrocardia, Micrognathia, Midshaft hypospadias, Wide nasal bridge, Patent ductus arteriosus, De... ORPHA:2863
Familial Nasal Acilia
Bronchiectasis, Chronic rhinitis, Chronic sinusitis, Respiratory distress, Dyspnea, Atelectasis ORPHA:922
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Ventricular septal defect, Sideroblastic anemia, Patent ductus arteriosus, Oligohydramnios, Throm... OMIM:617021
Acrocephalopolydactyly
Depressed nasal ridge, Limb undergrowth, Short nose, Hepatosplenomegaly, Abnormal renal morphology ORPHA:221054
Ullrich Congenital Muscular Dystrophy 1
Reduced muscle collagen VI, Respiratory insufficiency, Torticollis, Respiratory insufficiency due... OMIM:254090
Mental Retardation With Language Impairment And With Or Without Autistic Features
Broad nasal tip, Short nose, Malar flattening, Retrognathia, Enuresis OMIM:613670
22Q11.2 Deletion Syndrome
Hypospadias, Carious teeth, Truncus arteriosus, Hypoplasia of the thymus, Abnormal dental enamel ... ORPHA:567
Even-Plus Syndrome
Renal hypoplasia, Depressed nasal ridge, Short nose, Bifid nasal tip, Recurrent urinary tract inf... OMIM:616854
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects
Ventricular septal defect, Micrognathia, Atrioventricular canal defect, Wide nasal bridge, Absent... OMIM:600123
46,Xx Sex Reversal 5
Aplasia of the left hemidiaphragm, Ventricular septal defect, Hypoplastic left heart, Secundum at... OMIM:618901
Cardioacrofacial Dysplasia 1
Complete atrioventricular canal defect, Atrioventricular canal defect, Limb undergrowth, Overhang... OMIM:619142
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Hypospadias, Depressed nasal ridge, Micrognathia, Abnormality of the ureter, Ascites, Anemia, Pol... ORPHA:1046
Noonan Syndrome 11
Hypertrophic cardiomyopathy, Depressed nasal bridge, Pulmonic stenosis, Atrial septal defect, Bul... OMIM:618499
Peroxisome Biogenesis Disorder 2A (Zellweger)
Micrognathia, Aminoaciduria, Abnormal heart morphology, Hypoplasia of the thymus, Polycystic kidn... OMIM:214110
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Short 5th metacarpal, Short nose, Perimembranous ventricular septal defect, Pulmonic stenosis, Tr... OMIM:617877
Digeorge Syndrome
Interrupted aortic arch, Ventricular septal defect, Hydronephrosis, Truncus arteriosus, Micrognat... OMIM:188400
Arthrogryposis Multiplex Congenita 6
Respiratory failure, Nemaline bodies, Arthrogryposis multiplex congenita, Increased variability i... OMIM:619334
Tetraploidy
Hydronephrosis, Convex nasal ridge, Micrognathia, Renal hypoplasia/aplasia, Aplasia/Hypoplasia of... ORPHA:3305
Johanson-Blizzard Syndrome
Dextrocardia, Hypospadias, Hydronephrosis, Underdeveloped nasal alae, Edema, Short nose, Anemia, ... ORPHA:2315
Autosomal Dominant Omodysplasia
Micrognathia, Depressed nasal bridge, Rhizomelia, Short nose, Malar flattening, Short 1st metacar... ORPHA:93328
Noonan Syndrome 4
Hypertrophic cardiomyopathy, Ventricular septal defect, Ureteral duplication, Hydronephrosis, Dep... OMIM:610733
8Q12 Microduplication Syndrome
Ventricular septal defect, Wide nasal bridge, Short foot, Atrial septal defect, Vesicoureteral re... ORPHA:228399
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Multiple joint contractures, Minicore myopathy, Limb muscle weakness, Respiratory insufficiency d... ORPHA:486815
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Absent muscle fiber merosin, Intercostal muscle weakness, Respiratory insufficiency, Myositis, Ma... ORPHA:258
Kagami-Ogata Syndrome
Ventricular septal defect, Micrognathia, Depressed nasal bridge, Premature birth, Limb undergrowt... OMIM:608149
Polysyndactyly With Cardiac Malformation
Ventricular septal defect, Renal cyst, Polyhydramnios, Atrial septal defect, Anteverted nares OMIM:263630
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Depressed nasal bridge, Aplastic clavicle, Short ribs, Polyhydramnios, Micropenis, Atrial septal ... OMIM:616546
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Renal hypoplasia, Hydronephrosis, Renal sarcoma, Nephrotic syndrome, Rena... OMIM:143400
Myopathy, Centronuclear, 1
Skeletal muscle hypertrophy, Facial palsy, EMG: myopathic abnormalities, Flexion contracture, Cen... OMIM:160150
Pentasomy X
Micrognathia, Small hand, Wide nasal bridge, Patent ductus arteriosus, Short foot, Abnormal cardi... ORPHA:11
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Broad nasal tip, Depressed nasal bridge, Double outlet right ventricle, Paten... OMIM:618223
Myopathic Ehlers-Danlos Syndrome
Contractures involving the joints of the feet, Decreased muscle mass, Ankle flexion contracture, ... ORPHA:536516
Hypertelorism And Tetralogy Of Fallot
Hypospadias, Depressed nasal bridge, Patent ductus arteriosus, Tetralogy of Fallot, Tetralogy of ... OMIM:239711
8P23.1 Microdeletion Syndrome
Hypertrophic cardiomyopathy, Hypospadias, Abnormal aortic morphology, Micrognathia, Atrioventricu... ORPHA:251071
Congenital Heart Defects, Multiple Types, 7
Pulmonary artery atresia, Pulmonic stenosis, Right aortic arch, Aortopulmonary collateral arterie... OMIM:618780
Peho-Like Syndrome
Edema, Short nose, Retrognathia OMIM:617507
Diabetes Insipidus, Neurohypophyseal
Central diabetes insipidus, Wide nose, Short nose, Decreased circulating osteocalcin level OMIM:125700
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome
Small hand, Abnormal heart valve morphology, Mitral valve prolapse, Pulmonic stenosis ORPHA:2868
Kallmann Syndrome-Heart Disease Syndrome
Dilated cardiomyopathy, Renal agenesis, Double outlet right ventricle, Hypogonadotropic hypogonad... ORPHA:2326
Syndromic Diarrhea
Bicuspid aortic valve, Ventricular septal defect, Increased mean platelet volume, Thrombocytosis,... ORPHA:84064
Nephrotic Syndrome, Type 11
Dilated cardiomyopathy, Renal tubular atrophy, Ventricular septal defect, Focal segmental glomeru... OMIM:616730
Pulmonic Stenosis
Pulmonic stenosis OMIM:265500
Codas Syndrome
Ventricular septal defect, Depressed nasal bridge, Short nose, Abnormal dental enamel morphology,... ORPHA:1458
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis OMIM:302000
Maxillonasal Dysplasia
Depressed nasal ridge, Depressed nasal bridge, Mandibular prognathia, Short nose, Short columella... ORPHA:1248
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Retinal arterial macroaneurysms, Pulmonic stenosis OMIM:614224
Primary Pulmonary Hypoplasia
Abnormal breath sound, Hypoxemia, Neonatal respiratory distress, Abnormal hemidiaphragm morpholog... ORPHA:2257
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Fetal polyuria, Increased urinary potassium, Premature birth, Edema, Decreased glomerular filtrat... OMIM:602522
Robinow Syndrome, Autosomal Recessive 2
Bicuspid aortic valve, Micrognathia, Broad nasal tip, Short nose, Wide nasal bridge, Mesomelia, A... OMIM:618529
Distal 22Q11.2 Microdeletion Syndrome
Underdeveloped nasal alae, Ventricular septal defect, Truncus arteriosus, Premature birth, Malar ... ORPHA:261330
Tracheobronchopathia Osteochondroplastica
Wheezing, Productive cough, Stridor, Respiratory insufficiency, Pneumonia, Upper airway obstructi... ORPHA:3348
Amyotrophic Lateral Sclerosis 20
Muscular dystrophy, Rimmed vacuoles, Muscle fiber inclusion bodies OMIM:615426
Hydrocephaly-Low Insertion Umbilicus Syndrome
Long nose, Abnormality of the urinary system, Wide nose, Patent ductus arteriosus, Tetralogy of F... ORPHA:2184
Heterotaxy, Visceral, 7, Autosomal
Dextrocardia, Interrupted aortic arch, Interrupted inferior vena cava with azygous continuation, ... OMIM:616749
Capillary Malformation-Arteriovenous Malformation
Arteriovenous fistula, Lymphedema, Nonimmune hydrops fetalis, Abnormal heart morphology, Abnormal... ORPHA:137667
Laryngotracheal Angioma
Wheezing, Stridor, Apnea, Cough, Respiratory distress, Cyanosis, Intercostal retractions ORPHA:137935
Li-Campeau Syndrome
Ventricular septal defect, Patent ductus arteriosus, Micropenis, Atrial septal defect, Hypothyroi... OMIM:619189
Idiopathic Neonatal Atrial Flutter
Hydrops fetalis, Maternal diabetes, Fetal distress ORPHA:45452
Prune Belly Syndrome
Ventricular septal defect, Abnormality of the ureter, Congenital posterior urethral valve, Patent... ORPHA:2970
Orofaciodigital Syndrome Xv
Anteverted nares, Hydronephrosis, Wide nasal bridge OMIM:617127
Filippi Syndrome
Underdeveloped nasal alae, Ventricular septal defect, Wide nasal bridge, Low hanging columella, C... OMIM:272440
Perlman Syndrome
Micrognathia, Short nose, Wide nasal bridge, Anteverted nares, Retrognathia, Abnormal pancreas mo... ORPHA:2849
Carpenter Syndrome 1
Ventricular septal defect, Hydronephrosis, Depressed nasal bridge, Micrognathia, Polysplenia, Apl... OMIM:201000
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Ventricular septal defect OMIM:616277
Feingold Syndrome Type 1
Interrupted aortic arch, Horseshoe kidney, Hydronephrosis, Short middle phalanx of finger, Tricus... ORPHA:391641
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Ventricular septal defect, Hydronephrosis, Broad nasal tip, Prominent nasal bridge, Patent ductus... ORPHA:457193
Grange Syndrome
Ventricular septal defect, Short palm, Arterial stenosis, Patent ductus arteriosus ORPHA:79094
Miller-Dieker Syndrome
Short nose, Anteverted nares, Nephropathy, Polyhydramnios ORPHA:531
Hamel Cerebro-Palato-Cardiac Syndrome
Micrognathia, Malar flattening, Wide nasal bridge, Bulbous nose, Atrial septal defect ORPHA:93946
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Skeletal muscle atrophy, Pneumonia, Right ventricular hypertrophy, Muscular dystrophy, Muscle fib... OMIM:253700
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Myopathy, Pelvic girdle muscle weakness, Calf muscle hypertrophy, Increased variability in muscle... ORPHA:119
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Subvalvular aortic stenosis, Left ventricular hypertrophy, Tetralogy o... OMIM:108900
Surfactant Metabolism Dysfunction, Pulmonary, 2
Hypoxemia, Intralobular septal thickening, Respiratory insufficiency, Interstitial pneumonitis, N... OMIM:610913
Combined Oxidative Phosphorylation Deficiency 15
Ventricular septal defect, Ventricular septal hypertrophy OMIM:614947
Immunodeficiency, Common Variable, 6
Macroscopic hematuria, Hydronephrosis, Mesangial Immune complex deposition, Stage 5 chronic kidne... OMIM:613496
Kleefstra Syndrome
Hypospadias, Bicuspid aortic valve, Ventricular septal defect, Hydronephrosis, Mandibular prognat... ORPHA:261494
X-Linked Intellectual Disability, Nascimento Type
Hypospadias, Underdeveloped nasal alae, Ventricular septal defect, Neutropenia, Depressed nasal b... ORPHA:163956
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Hypertrophic cardiomyopathy, Carious teeth, Short nose, Pulmonic stenosis, Anteverted nares, Cryp... ORPHA:2701
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect OMIM:235750
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect OMIM:209770
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Broad nasal tip, Mandibular prognathia, Abnormal heart morphology, Short nose, Prominent nasolabi... ORPHA:391372
Congenital Anomalies Of Kidney And Urinary Tract 3
Ectopic kidney, Hydronephrosis, Renal cyst, Vesicoureteral reflux OMIM:618270
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect, Patent ductus arteriosus, Varicose veins, Pedal edema, Peripheral arte... OMIM:126320
Chromosome 18Q Deletion Syndrome
Hypospadias, Prominent nose, Ventricular septal defect, Ascending tubular aorta aneurysm, Depress... OMIM:601808
Short Stature, Developmental Delay, And Congenital Heart Defects
Ventricular septal defect, Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus OMIM:617044
Distal Trisomy 5Q
Dextrocardia, Hypospadias, Ventricular septal defect, Carious teeth, Micrognathia, Aplasia/Hypopl... ORPHA:96097
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Ascites, Hydrocele testis, Abnormality of the lymphatic system, Palpebral edema, Pleural effusion... ORPHA:69735
Craniosynostosis, Herrmann-Opitz Type
Micrognathia, Convex nasal ridge, Short nose, Malar flattening, Abnormality of the urethra, Oligo... ORPHA:2145
Blackfan-Diamond Anemia
Hypospadias, Neutropenia, Normochromic anemia, Erythroid hypoplasia, Reticulocytopenia, Ventricul... ORPHA:124
Gaucher Disease Type 3
Pericardial effusion, Mitral valve calcification, Hematuria, Anemia, Splenomegaly, Abnormal heart... ORPHA:77261
Timothy Syndrome
Ventricular septal defect, Depressed nasal bridge, Cardiomegaly, Patent ductus arteriosus, Tetral... OMIM:601005
Chromosome 6Q24-Q25 Deletion Syndrome
Right ventricular dilatation, Mitral valve prolapse, Dysplastic tricuspid valve, Small hand, Pate... OMIM:612863
Microgastria-Limb Reduction Defect Syndrome
Amelia, Abnormality of the spleen, Horseshoe kidney, Renal agenesis, Truncus arteriosus, Phocomel... ORPHA:2538
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Neutropenia, Anemia, Short middle phalanx of the 4th finger, Congenital thrombocytopenia, Thrombo... OMIM:616738
Penile Agenesis
Cystic renal dysplasia, Bilateral renal hypoplasia, Ventricular septal defect, Maternal diabetes,... ORPHA:49
Distal Trisomy 18Q
Carious teeth, Micrognathia, Short nose, Prominent nasal bridge, Thickened nuchal skin fold, Choa... ORPHA:1716
Proximal Myopathy With Extrapyramidal Signs
Central core regions in muscle fibers, Centrally nucleated skeletal muscle fibers, Increased vari... ORPHA:401768
Atrial Septal Defect 1
Bicuspid aortic valve, Ventricular septal defect, Atrial septal dilatation, Persistent left super... OMIM:108800
Surfactant Metabolism Dysfunction, Pulmonary, 3
Crazy paving pattern, Hypoxemia, Neonatal respiratory distress, Nonspecific interstitial pneumoni... OMIM:610921
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Hypoplasia of the thymus, Decreased proportion of CD4-positive helper T cells, Decreased proporti... OMIM:617241
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Ventricular septal defect, Micrognathia, Nephrocalcinosis, Right ventricular hypertrophy, Renal t... OMIM:208085
8P Inverted Duplication/Deletion Syndrome
Dextrocardia, Hydronephrosis, Micrognathia, Abnormality of the urinary system, Abnormal heart mor... ORPHA:96092
Fadd-Related Immunodeficiency
Ventricular septal defect, Pulmonary artery atresia ORPHA:306550
Autosomal Dominant Coarctation Of Aorta
Abnormal aortic arch morphology, Ventricular septal defect, Patent ductus arteriosus, Aortic arch... ORPHA:1455
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Ventricular septal defect, Single umbilical artery, Hypoplastic left heart, Cryptorchidism, Hypop... ORPHA:2772
Wolcott-Rallison Syndrome
Central hypothyroidism, Neutropenia, Ascites, Iron deficiency anemia, Double outlet right ventric... ORPHA:1667
Woods Syndrome
Low hanging columella, Ventricular septal defect, Wide nasal bridge, Supernumerary nipple OMIM:615236
Galloway-Mowat Syndrome 7
Dilated cardiomyopathy, Renal tubular atrophy, Ventricular septal defect, Focal segmental glomeru... OMIM:618348
Oculoauriculofrontonasal Syndrome
Underdeveloped nasal alae, Ventricular septal defect, Micrognathia, Wide nose, Bifid nasal tip ORPHA:398156
Diamond-Blackfan Anemia 7
Macrocytic anemia, Ventricular septal defect, Horseshoe kidney, Neutropenia, Increased mean corpu... OMIM:612562
Peroxisome Biogenesis Disorder 8A (Zellweger)
Ventricular septal defect OMIM:614876
Craniofacial-Deafness-Hand Syndrome
Hypoplasia of the maxilla, Short nose, Malar flattening OMIM:122880
Criss-Cross Heart
Ventricular septal defect, Tricuspid stenosis, Abnormal mitral valve morphology, Mitral stenosis,... ORPHA:1461
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Myopathy, Increased variability in muscle fiber diameter OMIM:125250
Chondrodysplasia With Joint Dislocations, Gpapp Type
Micrognathia, Short nose, Wide nasal bridge, Short foot, Short metacarpal, Short toe OMIM:614078
Zellweger Syndrome
Hypospadias, Ventricular septal defect, Hydronephrosis, Depressed nasal bridge, Micrognathia, Pre... ORPHA:912
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Pulmonary lymphangiectasia, Ventricular septal defect, Hydronephrosis, Broad nasal tip, Micrognat... ORPHA:1655
Greenberg Dysplasia
Malar flattening, Short ribs, 11 pairs of ribs, Hepatosplenomegaly, Hypoplasia of the maxilla, Hy... OMIM:215140
Gm1 Gangliosidosis Type 1
Broad nasal tip, Depressed nasal bridge, Cherry red spot of the macula, Cardiomyopathy, Hepatospl... ORPHA:79255
Suleiman-El-Hattab Syndrome
Hydronephrosis, Ventricular septal defect, Wide nasal bridge, Atrial septal defect, Cryptorchidis... OMIM:618950
Trisomy 17P
Urethral valve, Hydronephrosis, Prominent nose, Micrognathia, Hypoplasia of penis, Urethral steno... ORPHA:261290
Tarp Syndrome
Horseshoe kidney, Hydronephrosis, Micrognathia, Wide nasal bridge, Hypoplasia of the radius, Shor... OMIM:311900
Fryns Syndrome
Hypospadias, Abnormal aortic arch morphology, Abnormal aortic morphology, Hydronephrosis, Microgn... ORPHA:2059
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hypospadias, Renal hypoplasia, Ascites, Hypoplastic scapulae, Renal cyst, Short ribs, Polycystic ... OMIM:614091
Hypercalcemia, Infantile, 1
Nephrocalcinosis, Nephrolithiasis, Pulmonic stenosis, Polyuria, Hypercalciuria, Aortic valve sten... OMIM:143880
German Syndrome
Micrognathia, Depressed nasal bridge, Wide nasal bridge, Tetralogy of Fallot, Abnormal cardiac se... ORPHA:2077
Cap Myopathy
Abnormal muscle fiber morphology, Generalized amyotrophy, Facial palsy, Central hypoventilation, ... ORPHA:171881
Mucopolysaccharidosis, Type Vii
Cardiomyopathy, Splenomegaly, Recurrent upper respiratory tract infections, Abnormal heart valve ... OMIM:253220
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Myopathy, EMG: myopathic abnormalities, Increased variability in muscle fiber diameter, Lower lim... ORPHA:397744