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Gene: Dock1 MGI:2429765

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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

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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
Renal insufficiency, Multicystic kidney dysplasia, Ventricular septal defect, Premature birth, Ab... ORPHA:1909
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis OMIM:601127
Myopathy, Distal, With Rimmed Vacuoles
Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa... OMIM:617158
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Asplenia, Patent ductus art... ORPHA:210122
Genitopalatocardiac Syndrome
Ventricular septal defect, Hypospadias, Micrognathia, Renal cyst, Right aortic arch, Transpositio... OMIM:231060
14Q24.1Q24.3 Microdeletion Syndrome
Truncus arteriosus, Prominent nasal bridge, Ventricular septal defect, Ectopic kidney, Short thum... ORPHA:401935
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Increased variability in muscle... OMIM:618655
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Ventricular septal defect, Unilateral renal agenesis, Underdeveloped nasal alae, Truncus arterios... OMIM:601355
Gne Myopathy
Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc... ORPHA:602
Polyglucosan Body Myopathy 2
Pelvic girdle amyotrophy, Muscle fiber inclusion bodies, Peroneal muscle weakness, Hand muscle we... OMIM:616199
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Fatty replacement of skeletal muscle, Calf muscle hypertrophy, Proximal muscle weakness in lower ... OMIM:618848
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Ventricular septal defect, Renal agenesis, Micrognathia, Underdeveloped nasal alae, Renal hypopla... ORPHA:2516
Congenital Heart Defects, Multiple Types, 5
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... OMIM:617912
8P23.1 Duplication Syndrome
Wide nose, Ventricular septal defect, Adrenal insufficiency, Pulmonic stenosis, Tetralogy of Fall... ORPHA:251076
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... OMIM:614429
Fetal Parvovirus Syndrome
Thrombocytopenia, Increased nuchal translucency, Hydrops fetalis, Hypertrophic cardiomyopathy, As... ORPHA:295
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran... OMIM:217095
Ritscher-Schinzel Syndrome 1
Depressed nasal bridge, Ventricular septal defect, Decreased response to growth hormone stimulati... OMIM:220210
Cranioacrofacial Syndrome
Dupuytren contracture, Ventricular septal defect, Pulmonic stenosis OMIM:122850
Cayler Cardiofacial Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect OMIM:125520
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Calf muscle hypertrophy, P... OMIM:601954
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Fetal ascites, Polyhydramnios, Splenomegaly, Hydrops fetalis, Fetal pericardial effusion, Fetal p... OMIM:619462
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Anteverted nares, Nonimmune hydrops fetalis, Polyhydramnios, Adrenal hypoplasia, Hydrops fetalis,... OMIM:613124
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Polyhydramnios, Micrognathia, Asplenia, Atrial sep... OMIM:265380
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Ventricular septal defect, Polyhydramnios, Hydrops fetalis, Single umbilical artery, Abnormal aor... ORPHA:3405
Stankiewicz-Isidor Syndrome
Ureteral duplication, Ventricular septal defect, Hypospadias, Micrognathia, Prominent nose, Short... OMIM:617516
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Skeletal muscle atrophy, Axial muscle atrophy, Limb-girdle muscle weakness, Achilles tendon contr... ORPHA:254361
Chromosome 22Q11.2 Deletion Syndrome, Distal
Malar flattening, Truncus arteriosus, Underdeveloped nasal alae OMIM:611867
Congenital Heart Defects, Multiple Types, 6
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... OMIM:613854
Transaldolase Deficiency
Abnormality of the kidney, Edema, Thrombocytopenia, Hydrops fetalis, Coarctation of aorta, Bivent... ORPHA:101028
Hereditary Myopathy With Early Respiratory Failure
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis muscle weakness, H... ORPHA:178464
Verheij Syndrome
Anteverted nares, Ventricular septal defect, Renal agenesis, Broad nasal tip, Wide nasal bridge, ... OMIM:615583
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Overriding aorta, Ventricular septal defect, Depressed nasal bridge, Broad nasal tip, Lymphedema,... OMIM:601927
Chondrodysplasia, Blomstrand Type
Premature birth, Depressed nasal bridge, Fetal ascites, Polyhydramnios, Micrognathia, Micromelia,... OMIM:215045
Inclusion Body Myositis
Skeletal muscle atrophy, Abnormal muscle fiber morphology, Quadriceps muscle weakness, Ragged-red... ORPHA:611
Cleft-Limb-Heart Malformation Syndrome
Truncus arteriosus OMIM:215850
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Bicuspid aortic valve, Unilateral renal agenesis, Anomalous origin of left coronary artery from t... OMIM:618845
Congenital Heart Defects, Multiple Types, 9
Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricl... OMIM:620294
Ring Chromosome 8 Syndrome
Anteverted nares, Polyhydramnios, Abnormality of the ureter, Short nose, Hydronephrosis ORPHA:1450
Microphthalmia, Syndromic 9
Micrognathia, Atrial septal defect, Pulmonary artery atresia, Pelvic kidney, Single ventricle, Cr... OMIM:601186
Nonaka Myopathy
Distal amyotrophy, EMG: myopathic abnormalities, Distal lower limb muscle weakness, Deposits immu... OMIM:605820
Spinal Muscular Atrophy, Type Iv
Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centrally nucleated ... OMIM:271150
Robinow Syndrome
Micrognathia, Atrial septal defect, Webbed penis, Micropenis, Multicystic kidney dysplasia, Depre... ORPHA:97360
Myopathy, Sarcoplasmic Body
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Increased variability in mus... OMIM:620286
Myopathy, Distal, 5
Myopathy, Distal amyotrophy, Muscle fiber splitting, Weakness of facial musculature, Distal lower... OMIM:617030
Fetal Minoxidil Syndrome
Cryptorchidism, Ventricular septal defect, Depressed nasal bridge, Micrognathia ORPHA:1918
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom... ORPHA:3427
Oculopharyngodistal Myopathy 2
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Weakness of... OMIM:618940
Adams-Oliver Syndrome 6
Ventricular septal defect, Splenomegaly, Renal hypoplasia, Foot oligodactyly, Truncus arteriosus OMIM:616589
Recombinant Chromosome 8 Syndrome
Depressed nasal bridge, Anteverted nares, Ventricular septal defect, Micrognathia, Cryptorchidism... OMIM:179613
Megabladder, Congenital
Multiple glomerular cysts, Ventricular septal defect, Bicuspid aortic valve, Left ventricular non... OMIM:618719
Congenital Disorder Of Glycosylation, Type Ik
Nonimmune hydrops fetalis, Micrognathia, Splenomegaly, Cardiomyopathy, Abnormality of the amnioti... OMIM:608540
Double Outlet Right Ventricle
Hypoparathyroidism, Depressed nasal bridge, Ventricular septal defect, Double outlet right ventri... ORPHA:3426
Emanuel Syndrome
Micrognathia, Atrial septal defect, Micropenis, Premature birth, Cryptorchidism, Patent ductus ar... OMIM:609029
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Muscle fiber inclusion bodies, Centrally nucleated skeletal muscle fibers, Proximal muscle weakne... OMIM:615424
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal upper limb amyotrophy, Myopathy, Shoulder girdle muscle weakness, Limb-girdle muscular d... OMIM:609115
Inclusion Body Myopathy And Brain White Matter Abnormalities
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... OMIM:619733
Mulibrey Nanism
Wide nose, Depressed nasal bridge, Nephroblastoma, Cardiomegaly, Absent frontal sinuses, Hypoplas... OMIM:253250
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Autophagic vacuoles, Facial hypotonia, Fatty replacement of skeletal muscle, Shoulder girdle musc... ORPHA:266
Spinal Muscular Atrophy, Infantile, James Type
Hip contracture, Distal amyotrophy, Type 1 muscle fiber predominance, Increased variability in mu... OMIM:619042
Hydrops Fetalis
Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Abnormality of the k... ORPHA:1041
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Skeletal muscle atrophy, Torticollis, Fatty replacement of skeletal muscle, Increased variability... OMIM:613204
Nemaline Myopathy 9
Ventricular septal defect, Polyhydramnios, Micrognathia, Fetal akinesia sequence, Breech presenta... OMIM:615731
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A... OMIM:615779
Myopathy, Distal, 7, Adult-Onset, X-Linked
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... OMIM:301075
Cardiomyopathy, Familial Restrictive, 6
Restrictive cardiomyopathy, Ascites, Hydrops fetalis, Pulmonic stenosis OMIM:619433
Chime Syndrome
Ventricular septal defect, Abnormality of the kidney, Aplastic clavicle, Supernumerary tooth, Dep... ORPHA:3474
Cardiac Valvular Dysplasia 1
Edema, Arteria lusoria, Hydrops fetalis, Atrial septal defect, Pulmonary artery atresia, Patent f... OMIM:212093
Tubular Aggregate Myopathy
Centrally nucleated skeletal muscle fibers, Muscle fiber tubular inclusions, Type 2 muscle fiber ... ORPHA:2593
Truncus Arteriosus
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... ORPHA:3384
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Flexion contracture, Ca... OMIM:608099
Lethal Congenital Contracture Syndrome 2
Decreased fetal movement, Ventricular septal defect, Polyhydramnios, Edema, Micrognathia, Dilated... OMIM:607598
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Short femur, Anteverted nares, Ventricular septal defect, Polyhydramnios, Cardiomegaly, Micrognat... OMIM:616897
Sonoda Syndrome
Ventricular septal defect, Depressed nasal bridge OMIM:270460
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Centrally nucleated sk... OMIM:254110
Acitretin/Etretinate Embryopathy
Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/Hypoplasia of the maxilla, Antever... ORPHA:40366
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra... ORPHA:206549
Diffuse Neonatal Hemangiomatosis
Renal insufficiency, Premature birth, Polyhydramnios, Renal hypoplasia/aplasia, Thrombocytopenia,... ORPHA:2123
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... OMIM:613751
Renal-Hepatic-Pancreatic Dysplasia 2
Truncus arteriosus, Situs inversus totalis, Asplenia, Aortic valve stenosis, Pulmonic stenosis, H... OMIM:615415
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ... ORPHA:34516
Burn-Mckeown Syndrome
Prominent nasal bridge, Wide nasal bridge, Abnormal cardiac septum morphology, Short nose, Bilate... ORPHA:1200
Rhabdomyolysis, Susceptibility To, 1
Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter, Rhabdomyolysis,... OMIM:620235
Infantile Sialic Acid Storage Disease
Anteverted nares, Premature birth, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Hydrops fe... OMIM:269920
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C... OMIM:617760
Epidermolysis Bullosa With Diaphragmatic Hernia
Congenital diaphragmatic hernia OMIM:226735
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypospadias, Fetal akinesia sequence, Cryptorchidism, Dilated cardiomyopathy, Hydrops fetalis, Mi... OMIM:618815
Structural Heart Defects And Renal Anomalies Syndrome
Renal insufficiency, Ventricular septal defect, Partial anomalous pulmonary venous return, Renal ... OMIM:617478
22Q11.2 Duplication Syndrome
Wide nose, Ventricular septal defect, Micrognathia, Urethral stenosis, Depressed nasal ridge, Hyd... ORPHA:1727
Myopathy, Distal, Tateyama Type
Hand muscle weakness, Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy, ... OMIM:614321
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Hip contracture, Elbow contracture, Ankle contracture, Limb-girdle muscle weakness, Rhabdomyolysi... OMIM:620386
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, I... OMIM:117000
Tricuspid Atresia
Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persistent left s... ORPHA:1209
Tibial Muscular Dystrophy
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... ORPHA:609
Phenobarbital Embryopathy
Mandibular prognathia, Hypospadias, Aplasia/Hypoplasia of fingers, Abnormal nasal base norphology... ORPHA:1919
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Muscular dystrophy, Increased vari... OMIM:608807
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, EMG:... OMIM:253601
Bardet-Biedl Syndrome 19
Atrial septal defect, Renal insufficiency, Ventricular septal defect, Partial atrioventricular ca... OMIM:615996
Aortic Valve Disease 1
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... OMIM:109730
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Overriding aorta, Micrognathia, Cryptorchidism, Patent ductus arteriosus, Wide nasal bridge, Hypo... ORPHA:3304
Achondrogenesis
Thickened nuchal skin fold, Anteverted nares, Polyhydramnios, Micrognathia, Micromelia, Hydrops f... ORPHA:932
Hydrops Fetalis, Nonimmune
Anemia, Nonimmune hydrops fetalis, Hydrops fetalis OMIM:236750
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Scapular winging, Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscl... OMIM:618129
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Hydroureter, Hydronephrosis, Pulmonic stenosis OMIM:264140
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect OMIM:178370
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Hypoplasia of the ulna, Hypoplasia of penis, Premature birth, Ventricular septal defect, Depresse... ORPHA:2256
Perching Syndrome
Joint contracture, Cyanosis, Camptodactyly OMIM:617055
Glycogen Storage Disease Iv
Decreased fetal movement, Polyhydramnios, Edema, Hydrops fetalis, Hepatosplenomegaly, Cardiomyopa... OMIM:232500
Congenital Pulmonary Lymphangiectasia
Splenomegaly, Hydrops fetalis, Chylopericardium, Pulmonic stenosis, Pleural effusion, Ascites ORPHA:2414
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Polyhydramnios, Splenomegaly, Hydrops fetalis, Abnormality of the urinary system, Limb undergrowth ORPHA:2204
Emanuel Syndrome
Delayed eruption of teeth, Decreased fetal movement, Broad jaw, Truncus arteriosus, Ventricular s... ORPHA:96170
Distal Deletion 19P
Hypoplasia of the maxilla, Pulmonary valve atresia, Ventricular septal defect, Tricuspid valve pr... ORPHA:96129
Myopathy, Scapulohumeroperoneal
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Facial palsy, Centrally nucleated... OMIM:616852
Achondrogenesis Type 1A
Thickened nuchal skin fold, Anteverted nares, Polyhydramnios, Micrognathia, Micromelia, Hydrops f... ORPHA:93299
Van Esch-O'Driscoll Syndrome
Ventricular septal defect, Depressed nasal bridge, Hypogonadotropic hypogonadism, Pulmonary arter... OMIM:301030
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Duplicated collecting system, Hydronephrosis OMIM:163850
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter OMIM:302045
Achondrogenesis Type 1B
Thickened nuchal skin fold, Anteverted nares, Polyhydramnios, Micrognathia, Micromelia, Hydrops f... ORPHA:93298
14Q11.2 Microdeletion Syndrome
Ventricular septal defect, Depressed nasal bridge, Micrognathia, Patent ductus arteriosus, Short ... ORPHA:261120
Scimitar Syndrome
Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Patent ductus arteriosus, Pa... ORPHA:185
Hereditary Continuous Muscle Fiber Activity
Congenital diaphragmatic hernia, Type 1 muscle fiber predominance ORPHA:972
Myopathy, X-Linked, With Postural Muscle Atrophy
Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Hamstring contractures, S... OMIM:300696
Alpha-B Crystallin-Related Late-Onset Myopathy
Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ... ORPHA:399058
Atrioventricular Septal Defect 5
Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart OMIM:614474
Trisomy 1Q
Microretrognathia, Wide nose, Multicystic kidney dysplasia, Ventricular septal defect, Depressed ... ORPHA:261344
Spinal Muscular Atrophy, Type I
Ventricular septal defect, Spinal muscular atrophy, Proximal amyotrophy, Proximal muscle weakness... OMIM:253300
Mesoaxial Hexadactyly And Cardiac Malformation
Torticollis, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septa... OMIM:249670
Hb Bart'S Hydrops Fetalis
Pericarditis, Abnormal hemoglobin, Polyhydramnios, Splenomegaly, Hydrops fetalis, Anemia, Oligohy... ORPHA:163596
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Increased variability in muscle fiber diameter, Flexion contracture, Muscle fiber intracytoplasmi... OMIM:300717
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Proximal muscle weakness in lower limbs, Myopathy, Increased variability in muscle fiber diameter ORPHA:1878
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Ventricular septal defect, Fetal akinesia sequence, Cardiomegaly, Micrognathia,... OMIM:617022
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial edema, Increased nucha... OMIM:617300
Fetal Trimethadione Syndrome
Depressed nasal bridge, Ventricular septal defect, Hypospadias, Micrognathia, Transposition of th... ORPHA:1913
Renal Tubular Dysgenesis
Premature birth, Polyhydramnios, Tetralogy of Fallot, Proximal tubulopathy, Multiple renal cysts,... ORPHA:3033
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Knee flexion contracture, Myopathy, T... OMIM:616313
Myofibrillar Myopathy 11
Centrally nucleated skeletal muscle fibers, Z-band streaming, Calf muscle hypertrophy, Muscle fib... OMIM:619178
Distal Myopathy, Tateyama Type
Calf muscle pseudohypertrophy, Increased variability in muscle fiber diameter, Intrinsic hand mus... ORPHA:488650
Myopathy, Tubular Aggregate, 1
Flexion contracture, Type 2 muscle fiber atrophy, Proximal amyotrophy, Myopathy, Type 1 muscle fi... OMIM:160565
Pulmonic Stenosis And Deafness
Ventricular hypertrophy, Pulmonic stenosis OMIM:178651
Neuraminidase Deficiency
Urinary excretion of sialylated oligosaccharides, Proteinuria, Bone-marrow foam cells, Cardiomega... OMIM:256550
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Shoulder flexion contracture, A... OMIM:619566
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Nonimmune hydrops fetalis, Pericardia... OMIM:619313
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia OMIM:618254
Diamond-Blackfan Anemia 16
Atrial septal defect, Anemia, Pulmonic stenosis OMIM:617408
Bethlem Myopathy 2
Myopathy, Scapular winging, Flexion contracture, Increased variability in muscle fiber diameter OMIM:616471
Nuchal Bleb, Familial
Fetal cystic hygroma, Hydrops fetalis OMIM:257350
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Myopathy, Musc... OMIM:612999
Eng-Strom Syndrome
Abnormal cardiac septum morphology, Ventricular septal defect, Camptodactyly of finger ORPHA:1937
Right Atrial Isomerism
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri... OMIM:208530
Klippel-Trénaunay Syndrome
Peripheral arteriovenous fistula, Edema, Microcytic anemia, Venous insufficiency, Patent ductus a... ORPHA:90308
Bronchopulmonary Dysplasia
Atelectasis, Abnormal lung morphology, Hyperoxemia, Pulmonary sequestration, Emphysema, Right ven... ORPHA:70589
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Pneumonia, Flexion contracture, Muscle fi... OMIM:253700
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Overriding aorta, Ventricular septal defect, Nonimmune hydrops fetalis, Ext... OMIM:617021
Cardiomyopathy, Dilated, 1X
Calf muscle hypertrophy, Increased variability in muscle fiber diameter OMIM:611615
Congenital Heart Block
Premature birth, Pericardial effusion, Patent ductus arteriosus, Hydrops fetalis, Peripheral edem... ORPHA:60041
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast... OMIM:614779
Congenital Myopathy 8
Internally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Abno... OMIM:618654
Hernia, Anterior Diaphragmatic
Congenital diaphragmatic hernia OMIM:306950
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Ragged-red muscle fibers, Lower limb amyotrophy, Upper limb amyotrophy, Upper limb muscle weaknes... OMIM:616924
Myasthenic Syndrome, Congenital, 14
Scapular winging, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Ragged... OMIM:616228
Testicular Anomalies With Or Without Congenital Heart Disease
Corpus cavernosum hypoplasia, Abnormality of thyroid physiology, Cryptorchidism, Testicular dysge... OMIM:615542
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Abnormal mitral valve morphology, Mesomelia, Convex nasal ridge, Micrognathia ORPHA:1277
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Depressed nasal bridge, Anteverted nares, Parachute mitral valve, Prominent nose, Ventricular sep... OMIM:618316
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Myopathy, Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers OMIM:618992
Diabetic Embryopathy
Ureteral duplication, Ventricular septal defect, Micrognathia, Renal hypoplasia/aplasia, Cryptorc... ORPHA:1926
Postsynaptic Congenital Myasthenic Syndromes
Skeletal muscle atrophy, Cyanosis, Facial palsy, Triceps weakness, Weakness of long finger extens... ORPHA:98913
17Q21.31 Microduplication Syndrome
Anteverted nares, Micrognathia, Delayed puberty, Malar flattening, Short nose ORPHA:217340
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Skeletal muscle atrophy, Acrocyanosis ORPHA:2400
Lymphatic Malformation 1
Urethral stricture, Prominent superficial veins, Predominantly lower limb lymphedema, Nonimmune h... OMIM:153100
Heterotaxy, Visceral, 12, Autosomal
Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septal defect, Patent... OMIM:619702
Microphthalmia, Syndromic 12
Ventricular septal defect, Micrognathia, Broad nasal tip, Cryptorchidism, Hypoplastic left atrium... OMIM:615524
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Myopathy, Cyanosis ORPHA:91130
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Short nose, Anteverted nares, Micrognathia ORPHA:2015
Ulnar Agenesis And Endocardial Fibroelastosis
Aplasia of the ulna, Hand oligodactyly, Hydrops fetalis, Endocardial fibroelastosis OMIM:276822
Diaphragmatic Hernia, Congenital
Congenital diaphragmatic hernia OMIM:142340
Diaphragmatic Hernia 3
Congenital diaphragmatic hernia OMIM:610187
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Pleural effusion, Generalized edema OMIM:618773
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Myopathy, Limb-girdle muscular dystrophy, Increased variability in muscle fiber diameter, Rimmed ... OMIM:612937
Congenital Myopathy 18
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Increased e... OMIM:620246
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Increased variability in muscle fiber diameter, Flexion contracture, Muscle fiber intracytoplasmi... OMIM:300718
Atrial Septal Defect 2
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept... OMIM:607941
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Hypoplasia of penis, Hydroureter, Polyhydramnios, Micrognathia, Abnormality of the upper urinary ... ORPHA:2547
Mosaic Trisomy 9
Hypoplasia of penis, Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Po... ORPHA:99776
Oculopharyngodistal Myopathy 3
Internally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dist... OMIM:619473
Fetal Gaucher Disease
Decreased fetal movement, Pancytopenia, Depressed nasal bridge, Anteverted nares, Fetal akinesia ... ORPHA:85212
Lymphatic Malformation 6
Genital edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Lymphedema, Perior... OMIM:616843
Hypoplastic Left Heart Syndrome 2
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia OMIM:614435
Lymphangiectasia, Pulmonary, Congenital
Depressed nasal bridge, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Palpebral... OMIM:265300
Heterotaxy, Visceral, 8, Autosomal
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... OMIM:617205
Heart Defects, Congenital, And Other Congenital Anomalies
Absent gallbladder, Double outlet left ventricle, Diabetes mellitus, Ventricular septal defect, U... OMIM:600001
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Atelectasis, Bronchiectasis OMIM:253240
Acute Interstitial Pneumonia
Cyanosis, Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Ground-... ORPHA:79126
Heterotaxy, Visceral, 1, X-Linked
Polyhydramnios, Cardiomegaly, Asplenia, Dextrotransposition of the great arteries, Atrial septal ... OMIM:306955
Maternal Phenylketonuria
Anteverted nares, Ventricular septal defect, Micrognathia, Abnormal renal morphology, Wide nasal ... ORPHA:2209
Cutis Laxa-Marfanoid Syndrome
Emphysema, Flexion contracture, Congenital diaphragmatic hernia ORPHA:171719
Whim Syndrome 2
Tetralogy of Fallot, Chronic neutropenia OMIM:619407
Neuralgic Amyotrophy
Scapular winging, Acrocyanosis ORPHA:2901
Partial Atrioventricular Septal Defect
Bicuspid aortic valve, Transient ischemic attack, Coronary sinus enlargement, Partial atrioventri... ORPHA:1330
Nephronophthisis 16
Renal insufficiency, Situs inversus totalis, Patent ductus arteriosus, Stage 5 chronic kidney dis... OMIM:615382
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Scapular winging, Quadriceps muscle weakness, Achilles tendon contracture, Increased variability ... OMIM:603689
Bronchogenic Cyst
Abnormal pulmonary thoracic imaging finding, Pulmonary cyst, Pneumonia, Abnormal pleura morpholog... ORPHA:2357
Congenital Myopathy 6 With Ophthalmoplegia
Scapular winging, Muscle fiber inclusion bodies, Myopathy, Congenital contracture, Type 1 muscle ... OMIM:605637
Asbestos Intoxication
Cyanosis, Lung adenocarcinoma, Ground-glass opacification, Atelectasis, Pleural thickening, Abnor... ORPHA:2302
Adams-Oliver Syndrome 4
Ventricular septal defect, Short toe, Patent ductus arteriosus, Absent middle phalanx of the 3rd ... OMIM:615297
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Lymphedema, Periorbital edema, Ectopic kidney, Conical incisor, Short palm, Atrial septal defect,... OMIM:235510
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema, Congenital diaphragmatic hernia OMIM:614100
Acrocardiofacial Syndrome
Hypoplasia of penis, Hyperthyroidism, Mitral stenosis, Ventricular septal defect, Hypospadias, Cr... ORPHA:2008
Achondrogenesis, Type Ib
Polyhydramnios, Edema, Micromelia, Breech presentation, Hydrops fetalis, Short ribs, Malar flatte... OMIM:600972
Cardiomyopathy, Familial Hypertrophic, 27
Nonimmune hydrops fetalis, Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular sept... OMIM:618052
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, Prox... OMIM:614302
Mitochondrial Complex I Deficiency, Nuclear Type 35
Lacticaciduria, Cardiomyopathy, Elevated urinary 4-hydroxybutyric acid, Nonimmune hydrops fetalis OMIM:619003
Congenital Myopathy 14
Hip contracture, Flexion contracture, Elbow flexion contracture, Increased variability in muscle ... OMIM:618414
Congenital Diaphragmatic Hernia
Hypoxemia, Aplasia/Hypoplasia of the diaphragm, Pulmonary hypoplasia, Congenital diaphragmatic he... ORPHA:2140
Adult-Onset Nemaline Myopathy
Flexion contracture, Increased muscle lipid content, Upper limb muscle weakness, Myopathy, Type 1... ORPHA:171442
3C Syndrome
Hypoplasia of penis, Depressed nasal bridge, Ventricular septal defect, Abnormal mitral valve mor... ORPHA:7
Beaulieu-Boycott-Innes Syndrome
Recurrent urinary tract infections, Ventricular septal defect, Unilateral renal agenesis, Microgn... OMIM:613680
Severe X-Linked Mitochondrial Encephalomyopathy
Skeletal muscle atrophy, Increased variability in muscle fiber diameter ORPHA:238329
Peroxisome Biogenesis Disorder 12A (Zellweger)
Decreased fetal movement, Prominence of the premaxilla, Prominent nose, Patent ductus arteriosus,... OMIM:614886
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Ventricular septal defect, Unilateral renal agenesis, Cryptorchidism, Bulbous nose, Increased nuc... OMIM:618494
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Hypoplasia of the thymus OMIM:200900
Trisomy 13
Ventricular septal defect, Displacement of the urethral meatus, Cryptorchidism, Patent ductus art... ORPHA:3378
Lymphatic Malformation 12
Nonimmune hydrops fetalis, Fetal ascites, Polyhydramnios, Lymphedema, Fetal pericardial effusion,... OMIM:620014
Gm1-Gangliosidosis, Type I
Abnormal heart valve morphology, Splenomegaly, Dilated cardiomyopathy, Depressed nasal ridge, Hyd... OMIM:230500
Nemaline Myopathy 2
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Thenar muscle atrophy, Fatty replacement ... OMIM:256030
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis OMIM:617992
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Weakness of facial musculature, Increased endomysial connective tissue, Increased variability in ... OMIM:620265
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Bronchiectasis OMIM:615872
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Myopathy, Calf muscle hy... ORPHA:86812
Congenital Heart Defects, Multiple Types, 2
Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul... OMIM:614980
Alagille Syndrome 2
Renal insufficiency, Proteinuria, Long nose, Renal hypoplasia, Renal cyst, Hematuria, Renal tubul... OMIM:610205
Oculopharyngeal Muscular Dystrophy
Myopathy, Rimmed vacuoles, Ragged-red muscle fibers, Abnormal muscle fiber morphology ORPHA:270
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Cutaneous photosensitivity, Telangiectasia of the skin, Congenital diaphragmatic hernia, Retinal ... ORPHA:438134
Aortic Arch Interruption
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,... ORPHA:2299
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Myopathy, Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Frontalis muscle wea... OMIM:300580
Sialidosis Type 2
Splenomegaly, Hydrops fetalis, Pedal edema, Nephropathy, Ascites ORPHA:87876
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Fetal Encasement Syndrome
Decreased fetal movement, Upper limb undergrowth, Horseshoe kidney, Increased urinary 8-oxo-7,8-d... OMIM:613630
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Mandibular prognathia, Abnormal renal glomerulus morphology, Renal insufficiency, Membranoprolife... OMIM:137940
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Ventricular septal defect, Micrognathia, Renal hypoplasia/aplasia, Cryptorchidism, Abnormal aorti... ORPHA:1166
Image Syndrome
Depressed nasal bridge, Hypospadias, Adrenal hypoplasia, Micromelia, Cryptorchidism, Hypogonadism... ORPHA:85173
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Ventricular septal defect, Short nose, Delayed eruption of permanent teeth, Anteverted nares OMIM:618506
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Skeletal muscle hypertrophy, Calf muscle hypertrophy, Muscular dystrophy, Increased variability i... OMIM:613157
Oculopharyngodistal Myopathy 4
Autophagic vacuoles, Fatty replacement of skeletal muscle, Increased variability in muscle fiber ... OMIM:619790
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Ventricular septal defect, Dextrocardia, Thoracic aortic aneurysm, Asplenia, Patent ductus arteri... OMIM:619657
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Ventricular septal defect, Depressed nasal bridge, Abnormal nasal morphology, Abnormal localizati... ORPHA:83473
Lethal Osteosclerotic Bone Dysplasia
Anteverted nares, Micrognathia, Depressed nasal ridge, Mandibular aplasia, Short nose, Retrognathia ORPHA:1832
Mmep Syndrome
Mandibular prognathia, Cryptorchidism, Ventricular septal defect ORPHA:3434
Congenital Myopathy 1B, Autosomal Recessive
Skeletal muscle atrophy, Recurrent respiratory infections, Facial palsy, Centrally nucleated skel... OMIM:255320
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Atelectasis, Recurrent bronchitis OMIM:300455
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Recurrent respiratory infections, Atelectasis, Bronchiectasis OMIM:619466
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Ventricular septal defect, Mesomelic/rhizomelic limb shortening, Abnormal t... ORPHA:1354
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Hydrops fe... ORPHA:846
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Camptodactyly of finger, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C... OMIM:617072
Primary Ciliary Dyskinesia
Abnormal atrial arrangement, Nasal polyposis, Atrial situs ambiguous, Situs inversus totalis, Asp... ORPHA:244
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Wide nose, Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Abnormal renal mor... ORPHA:477817
Non-Distal Duplication 10Q
Depressed nasal bridge, Micrognathia, Cryptorchidism, Abnormality of the urinary system, Short no... ORPHA:1695
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent pneumonia, Bronchiectasis, Recurrent lower respiratory tract infections, R... OMIM:616726
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Depressed nasal ridge, Short nose, Anteverted nares, Hypospadias ORPHA:1355
Tibial Muscular Dystrophy, Tardive
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles OMIM:600334
Renal Hypodysplasia/Aplasia 3
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... OMIM:617805
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibers, Elbow flexi... OMIM:618138
Congenital Primary Megaureter
Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t... ORPHA:617
Autosomal Recessive Amelia
Hypoplasia of penis, Polyhydramnios, Micrognathia, Cryptorchidism, Abnormal cardiac septum morpho... ORPHA:1027
Maxillonasal Dysplasia, Binder Type
Depressed nasal bridge, Dental malocclusion, Short columella, Short nose, Short distal phalanx of... OMIM:155050
Feingold Syndrome Type 2
Short middle phalanx of finger, Short thumb, Ventricular septal defect ORPHA:391646
Feingold Syndrome 2
Short middle phalanx of the 2nd finger, Short thumb, Ventricular septal defect, Short middle phal... OMIM:614326
Tetralogy Of Fallot
Abnormal nasal morphology, Cryptorchidism, Tetralogy of Fallot ORPHA:3303
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Myotubular Myopathy With Abnormal Genital Development
Myopathy, Atelectasis, Centrally nucleated skeletal muscle fibers OMIM:300219
8p23.1 deletion syndrome
Congenital diaphragmatic hernia DECIPHER:39
Isobutyryl-Coa Dehydrogenase Deficiency
Dicarboxylic aciduria, Dilated cardiomyopathy, Pulmonic stenosis, Dehydration ORPHA:79159
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Short humerus, Dextrocardia, Polyhydramnios, Absent radius, Urethral atresia, Transposition of th... OMIM:314390
Femoral-Facial Syndrome
Short third metatarsal, Short humerus, Short fourth metatarsal, Short fifth metatarsal, Ventricul... OMIM:134780
Congenital Enterovirus Infection
Decreased fetal movement, Abnormal macrophage morphology, Premature birth, Fetal ascites, Polyhyd... ORPHA:292
Congenital Myopathy 5 With Cardiomyopathy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa... OMIM:611705
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Secundum atrial septal defect, Neonatal omphalitis, Leukopenia, Hypoplasia of the thymus, Neutrop... OMIM:612541
Xk Aprosencephaly Syndrome
Atrial septal defect, Abnormal nostril morphology, Ventricular septal defect, Polyhydramnios ORPHA:3469
Cardiomyopathy, Familial Hypertrophic, 21
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Myofiber disarray, Mitral valve prolapse OMIM:614676
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Anteverted nares, Precocious puberty, Bulbous nose, Wide nasal bridge, Dysplastic pulmonary valve OMIM:300958
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Ventricular septal defect, Prominent nasal bridge, Bulbous nose, Patent ductus arteriosus, Microp... OMIM:613870
Congenital Myopathy 19
Decreased fetal movement, Micrognathia, Cryptorchidism, Renal atrophy, Depressed nasal ridge, Hyd... OMIM:618578
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Micrognathia, Short thumb,... OMIM:612561
Ciliary Dyskinesia, Primary, 21
Atelectasis, Recurrent pneumonia, Bronchiectasis OMIM:615294
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Premature birth, Nonimmune hydrops fetalis, Cardiomegaly, A... OMIM:618838
Congenital Multicore Myopathy With External Ophthalmoplegia
Skeletal muscle atrophy, Recurrent respiratory infections, Internally nucleated skeletal muscle f... ORPHA:98905
Ventricular Septal Defect 3
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:614432
Waardenburg Syndrome Type 3
Atelectasis, Acrocyanosis, Camptodactyly of finger ORPHA:896
Heterotaxy, Visceral, 5, Autosomal
Absence of the sacrum, Right atrial isomerism, Ureteral duplication, Ventricular septal defect, D... OMIM:270100
Heterotaxy, Visceral, 2, Autosomal
Dextrocardia, Situs inversus totalis, Atrioventricular canal defect, Asplenia, Left atrial isomer... OMIM:605376
Fanconi Anemia, Complementation Group O
Absent thumb, Cryptorchidism, Short thumb, Hypoplasia of the radius, Stage 5 chronic kidney disea... OMIM:613390
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Retinal arterial macroaneurysms, Pulmonic stenosis OMIM:614224
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Duplicated collecting system, Ventricular septal defect, Hypospadias, Polyhydramnios, Cryptorchid... OMIM:301056
Infant Acute Respiratory Distress Syndrome
Cyanosis, Pneumonia, Respiratory tract infection, Atelectasis, Hypoxemia, Pulmonary edema ORPHA:70587
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Angulated muscle fibers, Centrally nucleated skeletal muscle fibers, Muscular dystrophy, Increase... OMIM:617066
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Ventricular septal defect, Pulmonic stenosis, Camptodactyly, Atrial septal defect, Arthrogryposis... OMIM:614262
Reticular Dysgenesis
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus OMIM:267500
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Pulmonary artery atresia, Howell-Jolly bodies, Ventricular septal defect, Left superior vena cava... OMIM:613759
Even-Plus Syndrome
Recurrent urinary tract infections, Bifid nasal tip, Depressed nasal ridge, Vesicoureteral reflux... OMIM:616854
Tetralogy Of Fallot
Tetralogy of Fallot OMIM:187500
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Mandibular prognathia, Microretrognathia, Aplasia/Hypoplasia of the ribs, Bicuspid aortic valve, ... ORPHA:508498
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Anteverted nares, Micrognathia, Precocious puberty, Delayed eruption of permanent teeth, Short di... OMIM:619356
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Atrial septal defect, Ventricular septal defect, Micrognathia OMIM:608227
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Scapular winging, Calf muscle pseudohypertrophy, Achilles tendon contracture, Upper limb muscle w... ORPHA:353
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Central core regions in muscle fibers, Muscular dystrophy OMIM:159050
Intellectual Developmental Disorder, X-Linked 91
Short foot, Short nose, Small hand, Short 5th finger OMIM:300577
X-Linked Centronuclear Myopathy
Recurrent respiratory infections, Pneumonia, Weakness of facial musculature, Centrally nucleated ... ORPHA:596
Boomerang Dysplasia
Decreased response to growth hormone stimulation test, Polyhydramnios, Aplasia/Hypoplasia of the ... ORPHA:1263
Renal Caliceal Diverticuli-Deafness Syndrome
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th... ORPHA:2838
Developmental And Epileptic Encephalopathy 96
Hydrops fetalis OMIM:619340
Congenital Disorder Of Glycosylation, Type Il
Decreased fetal movement, Depressed nasal bridge, Edema, Pericardial effusion, Hepatosplenomegaly... OMIM:608776
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Peripheral pulmonary artery stenosis, Adrenal hypoplasia, Micrognathia, Periorb... OMIM:613177
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Reduced red cell py... ORPHA:766
C1Q Deficiency 2
Atelectasis, Bronchiectasis, Facial erythema, Vasculitis in the skin, Recurrent lower respiratory... OMIM:620321
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Thickened nuchal skin fold, Ventricular septal defect, Polyhydramnios, Lymphedema, Micrognathia, ... OMIM:235255
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Bicuspid aortic valve, Depressed nasal bridge, Choanal atresia, Ventricu... ORPHA:284169
Serkal Syndrome
Abnormal penis morphology, Hypoplasia of the bladder, Ventricular septal defect, Renal agenesis, ... ORPHA:139466
Methimazole Embryofetopathy
Ventricular septal defect, Choanal atresia, Polyhydramnios, Hypospadias, Abnormality of the thyro... ORPHA:1923
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Rhabdomyolysis, Proximal mus... OMIM:620138
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Nonimmune hydrops fetalis, Micrognathia, Vesicoureteral reflux, Retrognathia, Hydronephrosis OMIM:618265
Hadziselimovic Syndrome
Ventricular hypertrophy, Anteverted nares, Prominent nasal bridge, Ventricular septal defect, Ren... OMIM:612946
Dyssegmental Dysplasia, Silverman-Handmaker Type
Micromelia, Micrognathia, Cryptorchidism, Wide nasal bridge, Hydrops fetalis, Abnormal heart morp... ORPHA:1865
Rhizomelic Syndrome
Rhizomelia, Pulmonic stenosis, Micrognathia OMIM:268250
Posterior Urethral Valve
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Abnormal ... ORPHA:93110
Catel-Manzke Syndrome
Atrial septal defect, Malar flattening, Ventricular septal defect, Micrognathia ORPHA:1388
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Hypoplasia of penis, Hypospadias, Polyhydramnios, Micrognathia, Renal hypoplasia/aplasia, Splenom... ORPHA:1046
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... OMIM:618780
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Mandibular prognathia, Recurrent urinary tract infections, Ventricular septal defect, Depressed n... OMIM:619103
16P13.11 Microduplication Syndrome
Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept... ORPHA:261243
Cardioacrofacial Dysplasia 1
Hypoplasia of the maxilla, Complete atrioventricular canal defect, Limb undergrowth, Atrioventric... OMIM:619142
Congenital Myopathy 20
Skeletal muscle atrophy, Scapular winging, Elbow contracture, Centrally nucleated skeletal muscle... OMIM:620310
Diabetes Insipidus, Neurohypophyseal
Wide nose, Decreased circulating osteocalcin level, Central diabetes insipidus, Short nose OMIM:125700
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Recurrent respiratory infections, Ground-glass opacification, Atelectasis, Pulmonary infiltrates,... OMIM:610978
Noonan Syndrome 12
11 pairs of ribs, Lymphopenia, Ventricular septal defect, Decreased response to growth hormone st... OMIM:618624
Mycophenolate Mofetil Embryopathy
Ventricular septal defect, Micrognathia, Ectopic kidney, Hydrops fetalis, Coarctation of aorta, B... ORPHA:268249
Congenital Myopathy 10A, Severe Variant
Facial palsy, Camptodactyly of finger, Increased variability in muscle fiber diameter, Muscle fib... OMIM:614399
Alg9-Cdg
Micrognathia, Hydrops fetalis, Right ventricular dilatation, Abnormal left ventricular outflow tr... ORPHA:79328
Gaucher Disease, Perinatal Lethal
Decreased fetal movement, Depressed nasal bridge, Anteverted nares, Polyhydramnios, Cardiomegaly,... OMIM:608013
Congenital Muscular Dystrophy, Ullrich Type
Torticollis, Abnormal muscle fiber morphology, Flexion contracture, Elbow flexion contracture, Kn... ORPHA:75840
Acrocephalopolydactyly
Abnormal renal morphology, Depressed nasal ridge, Hepatosplenomegaly, Limb undergrowth, Short nose ORPHA:221054
Lymphedema-Distichiasis Syndrome
Predominantly lower limb lymphedema, Ventricular septal defect, Nonimmune hydrops fetalis, Lymphe... OMIM:153400
Meconium Aspiration Syndrome
Abnormal pulmonary thoracic imaging finding, Atelectasis, Pneumothorax, Hypoxemia, Aspiration pne... ORPHA:70588
Chromosome 15Q26-Qter Deletion Syndrome
Hypospadias, Micrognathia, Cryptorchidism, Wide nasal bridge, Abnormal cardiac septum morphology,... OMIM:612626
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Proximal muscle weakness in low... OMIM:613954
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Depressed nasal bridge, Anteverted nares, Hypospadias, Micrognathia, Renal agenesis, Cryptorchidi... ORPHA:171839
Polyvalvular Heart Disease Syndrome
Abnormal heart valve morphology, Prominent nose, Micrognathia, Mitral valve prolapse, Pulmonic st... ORPHA:228410
Renal Hypoplasia
Renal insufficiency, Recurrent urinary tract infections, Premature birth, Proteinuria, Unilateral... ORPHA:93101
Congenital Myopathy 10B, Mild Variant
Elbow contracture, Fatty replacement of skeletal muscle, Achilles tendon contracture, Ragged-red ... OMIM:620249
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Broad nasal tip, Enuresis, Malar flattening, Short nose, Retrognathia OMIM:613670
Absence Of The Pulmonary Artery
Abnormal coronary artery morphology, Cardiomegaly, Patent ductus arteriosus, Pedal edema, Abnorma... ORPHA:980
Rhiny
Short nose, Anteverted nares OMIM:180360
Teebi Hypertelorism Syndrome 1
Natal tooth, Depressed nasal bridge, Anteverted nares, Ventricular septal defect, Micrognathia, S... OMIM:145420
Tetraploidy
Convex nasal ridge, Renal hypoplasia/aplasia, Micrognathia, Hydronephrosis, Aplasia/Hypoplasia of... ORPHA:3305
22Q11.2 Deletion Syndrome
Polyhydramnios, Micrognathia, Abnormal aortic arch morphology, Hypoplasia of the thymus, Atrial s... ORPHA:567
2p15-16.1 microdeletion syndrome
Hydronephrosis DECIPHER:70
Blomstrand Lethal Chondrodysplasia
Natal tooth, Short metacarpal, Depressed nasal bridge, Anteverted nares, Polyhydramnios, Prematur... ORPHA:50945
Fibrochondrogenesis 1
Hypoplastic scapulae, Depressed nasal bridge, Anteverted nares, Rhizomelia, Small hand, Hydrops f... OMIM:228520
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Skeletal muscle atrophy, Spinal muscular atrophy, Flexion contracture, Increased variability in m... OMIM:616867
9q subtelomeric deletion syndrome
Short nose, Anteverted nares, Abnormal heart morphology DECIPHER:52
Congenital Myopathy 15
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Type 1 musc... OMIM:620161
Ullrich Congenital Muscular Dystrophy 2
Increased variability in muscle fiber diameter, Flexion contracture, Congenital muscular dystroph... OMIM:616470
Hennekam Syndrome
Delayed eruption of teeth, Lymphopenia, Depressed nasal bridge, Lymphedema, Pericardial effusion,... ORPHA:2136
Johanson-Blizzard Syndrome
Delayed eruption of teeth, Hypoplasia of penis, Diabetes mellitus, Hypospadias, Dextrocardia, Ede... ORPHA:2315
Gm1 Gangliosidosis
Mandibular prognathia, Depressed nasal bridge, Ventricular septal defect, Premature birth, Broad ... ORPHA:354
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Increased variability in muscle fiber diameter, Increased intramyocellular lipid droplets OMIM:619065
Burn-Mckeown Syndrome
Mandibular prognathia, Ventricular septal defect, Prominent nasal bridge, Choanal atresia, Underd... OMIM:608572
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Crossed fused renal ectopia, Hypoplastic right heart, Ventricular septal defect, Depressed nasal ... OMIM:618142
Platyspondylic Dysplasia, Torrance Type
Hypoplastic scapulae, Depressed nasal bridge, Polyhydramnios, Micromelia, Hydrops fetalis, Short ... ORPHA:85166
Idiopathic Chronic Eosinophilic Pneumonia
Abnormal pulmonary thoracic imaging finding, Atelectasis, Hypersensitivity pneumonitis, Hypoxemia... ORPHA:2902
46,Xx Sex Reversal 5
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect, Aplasia of the ... OMIM:618901
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Short nose, Abnormal cardiac septum morphology ORPHA:2370
Chromosome 1P36 Deletion Syndrome, Proximal
Bicuspid aortic valve, Anteverted nares, Ventricular septal defect, Micrognathia, Bifid nasal tip... OMIM:619343
Childhood-Onset Nemaline Myopathy
Scapular winging, Flexion contracture, Increased muscle lipid content, Generalized limb muscle at... ORPHA:171439
Short Stature-Wormian Bones-Dextrocardia Syndrome
Delayed eruption of teeth, Dextrocardia, Micrognathia, Renal hypoplasia/aplasia, Cryptorchidism, ... ORPHA:2863
Free Sialic Acid Storage Disease
Proteinuria, Splenomegaly, Hydrops fetalis, Nephrotic syndrome, Ascites ORPHA:834
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo... OMIM:604169
Distal 22Q11.2 Microdeletion Syndrome
Recurrent urinary tract infections, Ventricular septal defect, Prominent nasal bridge, Choanal at... ORPHA:261330
Tetrasomy 15Q26
Microretrognathia, Patent ductus arteriosus, Hypoplastic aortic arch, Horseshoe kidney, Atrial se... OMIM:614846
Lymphatic Malformation 13
Depressed nasal bridge, Nonimmune hydrops fetalis, Lymphedema, Patent ductus arteriosus, Fetal pe... OMIM:620244
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Abnormality of the urinary system, Hydronephrosis ORPHA:2669
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Fraser Syndrome 3
Sonographic non-visualized fetal bladder, Hypoplasia of the bladder, Wide nose, Hypoplasia of pen... OMIM:617667
Congenital Anomalies Of Kidney And Urinary Tract 3
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... OMIM:618270
Ventriculomegaly With Cystic Kidney Disease
Renal insufficiency, Ventricular septal defect, Premature birth, Polyhydramnios, Fetal pericardia... OMIM:219730
Hypotonia, Infantile, With Psychomotor Retardation
Myopathy, Increased variability in muscle fiber diameter OMIM:616816
Meckel Syndrome, Type 8
Pericardial effusion, Depressed nasal ridge, Anhydramnios, Polycystic kidney dysplasia, Short nos... OMIM:613885
Maxillonasal Dysplasia
Mandibular prognathia, Depressed nasal bridge, Aplasia/Hypoplasia of the distal phalanges of the ... ORPHA:1248
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Ventricu... OMIM:243150
Noonan Syndrome 4
Ureteral duplication, Ventricular septal defect, Depressed nasal bridge, Polyhydramnios, Cryptorc... OMIM:610733
Heterotaxy, Visceral, 7, Autosomal
Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of right ventricl... OMIM:616749
Noonan Syndrome 11
Depressed nasal bridge, Bulbous nose, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardi... OMIM:618499
Capillary Malformation-Arteriovenous Malformation
Neurogenic bladder, Peripheral arteriovenous fistula, Nonimmune hydrops fetalis, Epistaxis, Lymph... ORPHA:137667
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Thickened nuchal skin fold, Hypoplasia of penis, Prominent nasal bridge, Micrognathia, Underdevel... ORPHA:2083
Cat Eye Syndrome
Ventricular septal defect, Renal agenesis, Micrognathia, Absent radius, Patent ductus arteriosus,... OMIM:115470
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Ventricular septal defect, Abnormal pulmonary valve morp... ORPHA:860
Down Syndrome
Thickened nuchal skin fold, Prenatal double bubble sign, Ventricular septal defect, Short middle ... OMIM:190685
Intellectual Developmental Disorder, Autosomal Recessive 79
Ventricular septal defect, Wide nasal bridge, Short hallux, Broad nasal tip OMIM:620393
Temple-Baraitser Syndrome
Wide nose, Depressed nasal bridge, Short columella, Pulmonic stenosis, Atrial septal defect, Thic... OMIM:611816
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness,... OMIM:616812
Congenital Myopathy 3 With Rigid Spine
Facial palsy, Centrally nucleated skeletal muscle fibers, Flexion contracture, Increased variabil... OMIM:602771
Pulmonic Stenosis
Pulmonic stenosis OMIM:265500
Gillespie Syndrome
Truncus arteriosus OMIM:206700
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis OMIM:302000
8Q12 Microduplication Syndrome
Ventricular septal defect, Wide nasal bridge, Vesicoureteral reflux, Short foot, Atrial septal de... ORPHA:228399
Hydrocephaly-Low Insertion Umbilicus Syndrome
Wide nose, Long nose, Patent ductus arteriosus, Anomalous pulmonary venous return, Abnormality of... ORPHA:2184
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome
Small hand, Abnormal heart valve morphology, Pulmonic stenosis, Mitral valve prolapse ORPHA:2868
Kagami-Ogata Syndrome
Ventricular septal defect, Depressed nasal bridge, Anteverted nares, Polyhydramnios, Premature bi... OMIM:608149
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Depressed nasal bridge, Decreased response to growth hormone stimulation test... OMIM:618223
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Increased variability in muscle fiber diameter, Muscular dystrophy, Motheaten muscle fibers, Musc... OMIM:226670
Trisomy 17P
Wide nose, Hypoplasia of penis, Urethral valve, Prominent nose, Micrognathia, Patent ductus arter... ORPHA:261290
Peho-Like Syndrome
Short nose, Retrognathia, Edema OMIM:617507
Achondrogenesis, Type Ia
Hypoplastic nasal bridge, Hypoplastic scapulae, Anteverted nares, Depressed nasal bridge, Polyhyd... OMIM:200600
Carpenter Syndrome 1
Hydroureter, Depressed nasal bridge, Ventricular septal defect, Micrognathia, Hypoplasia of the m... OMIM:201000
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Recurrent respiratory infections, Multiple joint contractures, Centrally nucleated skeletal muscl... ORPHA:486815
Myopathy, Myofibrillar, 7
Skeletal muscle atrophy, Multiple joint contractures, Increased Z-disc width, Facial palsy, Shoul... OMIM:617114
Li-Campeau Syndrome
Ventricular septal defect, Hypothyroidism, Patent ductus arteriosus, Cryptorchidism, Patellar hyp... OMIM:619189
Peroxisome Biogenesis Disorder 2A (Zellweger)
Palpebral edema, Micrognathia, Cryptorchidism, Abnormal heart morphology, Aminoaciduria, Hypoplas... OMIM:214110
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Syndromic Diarrhea
Lymphopenia, Bicuspid aortic valve, Ventricular septal defect, Increased mean platelet volume, Sp... ORPHA:84064
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Centrally nucleated skeletal muscle fibers, Flexion contracture, Increased variability in muscle ... OMIM:618484
Birk-Aharoni Syndrome
Duplicated collecting system, Macrocytic anemia, Micrognathia, Cryptorchidism, Muscular ventricul... OMIM:620071
Intellectual Developmental Disorder, Autosomal Recessive 73
Decreased fetal movement, Patent ductus arteriosus, Ventricular septal defect OMIM:619717
Kallmann Syndrome-Heart Disease Syndrome
Hypogonadotropic hypogonadism, Renal agenesis, Partial anosmia, Total anosmia, Anomalous origin o... ORPHA:2326
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Microretrognathia, Ventricular septal defect, Prominent nasal bridge, Broad nasal tip, Cryptorchi... ORPHA:457193
Microgastria-Limb Reduction Defect Syndrome
Renal dysplasia, Multicystic kidney dysplasia, Crossed fused renal ectopia, Renal agenesis, Aplas... ORPHA:2538
Codas Syndrome
Delayed eruption of teeth, Short metacarpal, Hydroureter, Ventricular septal defect, Depressed na... ORPHA:1458
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa... OMIM:620135
Polysyndactyly With Cardiac Malformation
Ventricular septal defect, Anteverted nares, Polyhydramnios, Renal cyst, Atrial septal defect OMIM:263630
Suleiman-El-Hattab Syndrome
Microretrognathia, Ventricular septal defect, Cryptorchidism, Wide nasal bridge, Atrial septal de... OMIM:618950
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Mandibular prognathia, Diabetes mellitus, Abnormality of the kidney, Broad nasal tip, Recurrent u... ORPHA:391372
8Q24.3 Microdeletion Syndrome
Ectopic posterior pituitary, Micromelia, Bilateral renal hypoplasia, Vesicoureteral reflux, Atrio... ORPHA:508488
Autosomal Dominant Omodysplasia
Short humerus, Hypoplasia of penis, Rhizomelia, Depressed nasal bridge, Micrognathia, Cryptorchid... ORPHA:93328
8P23.1 Microdeletion Syndrome
Hypospadias, Prominent nasal bridge, Micrognathia, Cryptorchidism, Patent ductus arteriosus, Pulm... ORPHA:251071
Global Developmental Delay With Or Without Impaired Intellectual Development
Ventricular septal defect, Hypospadias, Bulbous nose, Patent ductus arteriosus, Atrial septal defect OMIM:618330
Zaki Syndrome
Wide nose, Anteverted nares, Renal agenesis, Micrognathia, Patent ductus arteriosus, Wide nasal b... OMIM:619648
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Predominantly lower limb lymphedema, Palpebral edema, Abnormality of the lymphatic system, Hydrop... ORPHA:69735
Kleefstra Syndrome
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of penis, Renal insufficiency, Bicus... ORPHA:261494
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD8-positive T cells, Hypoplasia of the thymus, Decreased proportion of C... OMIM:617241
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Wide nose, Depressed nasal bridge, Ventricular septal defect, Broad nasal tip, Long nose, Wide na... OMIM:619995
Combined Oxidative Phosphorylation Deficiency 8
Increased variability in muscle fiber diameter, Pulmonary hypoplasia OMIM:614096
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Thrombocytopenia, Hydrops fetalis, Hydrocele testis, Short middle phalanx of the 4th finger, Neut... OMIM:616738
Coenzyme Q10 Deficiency, Primary, 7
Patent ductus arteriosus, Ventricular septal defect, Hypertrophic cardiomyopathy, Hypoplastic lef... OMIM:616276
Perlman Syndrome
Hypoplasia of penis, Anteverted nares, Nephroblastoma, Micrognathia, Cryptorchidism, Hyperinsulin... ORPHA:2849
Nephrotic Syndrome, Type 11
Diffuse mesangial sclerosis, Ventricular septal defect, Proteinuria, Minimal change glomeruloneph... OMIM:616730
Hamel Cerebro-Palato-Cardiac Syndrome
Micrognathia, Bulbous nose, Wide nasal bridge, Atrial septal defect, Malar flattening ORPHA:93946
Prune Belly Syndrome
Multicystic kidney dysplasia, Recurrent urinary tract infections, Ventricular septal defect, Rena... ORPHA:2970
Immunodeficiency, Common Variable, 6
Glomerulonephritis, Autoimmune thrombocytopenia, Stage 5 chronic kidney disease, Mesangial Immune... OMIM:613496
Linear Skin Defects With Multiple Congenital Anomalies 2
Atrial septal defect, Ventricular hypertrophy, Short nose, Tetralogy of Fallot OMIM:300887
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Polyhydramnios, Patent ductus arteriosus, Wide nasal bridge, Nephrocalcinosis, Limb undergrowth, ... OMIM:618005
Feingold Syndrome Type 1
Renal dysplasia, Renal insufficiency, Tricuspid stenosis, Abnormality of the kidney, Micrognathia... ORPHA:391641
Wolcott-Rallison Syndrome
Renal insufficiency, Neonatal insulin-dependent diabetes mellitus, Chronic kidney disease, Dehydr... ORPHA:1667
Craniosynostosis, Herrmann-Opitz Type
Micromelia, Micrognathia, Abnormality of the urethra, Abnormality of the upper urinary tract, Mal... ORPHA:2145
Grange Syndrome
Patent ductus arteriosus, Ventricular septal defect, Arterial stenosis, Short palm ORPHA:79094
Miller-Dieker Syndrome
Nephropathy, Short nose, Anteverted nares, Polyhydramnios ORPHA:531
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect, Patent ductus arteriosus, Peripheral arterial stenosis, Pedal edema, V... OMIM:126320
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr... OMIM:108900
Yuan-Harel-Lupski Syndrome
Wide nose, Ventricular septal defect, Bicuspid aortic valve, Aortic root aneurysm, Double outlet ... OMIM:616652
X-Linked Intellectual Disability, Nascimento Type
Depressed nasal bridge, Ventricular septal defect, Hypospadias, Underdeveloped nasal alae, Crypto... ORPHA:163956
Digeorge Syndrome
Micrognathia, Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the thymus, Hypot... OMIM:188400
Tarp Syndrome
Anteverted nares, Micrognathia, Hypoplasia of the radius, Subdural hemorrhage, Wide nasal bridge,... OMIM:311900
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Anteverted nares, Carious teeth, Cryptorchidism, Pulmonic stenosis, Hypertrophic cardiomyopathy, ... ORPHA:2701
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
11 pairs of ribs, Anteverted nares, Short toe, Anterior open-bite malocclusion, Perimembranous ve... OMIM:617877
Williams-Beuren Region Duplication Syndrome
Decreased response to growth hormone stimulation test, Unilateral renal agenesis, Micrognathia, B... OMIM:609757
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Ventricular septal defect, Polyhydramnios, Micrognathia, Broad nasal tip, Pancreatic lymphangiect... ORPHA:1655
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Pulmonary hypoplasia, Congenital diaphragmatic hernia ORPHA:2141
Prune Belly Syndrome
Hydroureter, Cryptorchidism, Patent ductus arteriosus, Xerostomia, Congenital posterior urethral ... OMIM:100100
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Thickened nuchal skin fold, Mitral atresia, Patent ductus arteriosus, Double outlet right ventric... OMIM:618164
Amyotrophic Lateral Sclerosis 20
Muscle fiber inclusion bodies, Muscular dystrophy, Rimmed vacuoles OMIM:615426
Skraban-Deardorff Syndrome
Ventricular septal defect, Depressed nasal bridge, Anteverted nares, Micrognathia, Right aortic a... OMIM:617616
Woods Syndrome
Ventricular septal defect, Wide nasal bridge, Supernumerary nipple, Low hanging columella OMIM:615236
Diamond-Blackfan Anemia
Radial artery aplasia, Pure red cell aplasia, Micrognathia, Reticulocytopenia, Leukopenia, Neutro... ORPHA:124
Immunodeficiency 42
Splenomegaly, Hypoplasia of the thymus OMIM:616622
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect OMIM:209770
Idiopathic Neonatal Atrial Flutter
Hydrops fetalis, Fetal distress, Maternal diabetes ORPHA:45452
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Fryns Syndrome
Thickened nuchal skin fold, Multicystic kidney dysplasia, Anteverted nares, Hypospadias, Polyhydr... ORPHA:2059
Gm1 Gangliosidosis Type 1
Depressed nasal bridge, Broad nasal tip, Cherry red spot of the macula, Hydrops fetalis, Hepatosp... ORPHA:79255
Chromosome 18Q Deletion Syndrome
Mandibular prognathia, Depressed nasal bridge, Absence of the pulmonary valve, Ventricular septal... OMIM:601808
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Ventricular septal defect, Bicuspid aortic valve, Premature thelarche, Mitral valve prolapse, Coa... ORPHA:371428
Distal Duplication 18Q
Thickened nuchal skin fold, Hypoplasia of penis, Anteverted nares, Prominent nasal bridge, Choana... ORPHA:1716
8P Inverted Duplication/Deletion Syndrome
Anteverted nares, Dextrocardia, Micrognathia, Precocious puberty, Cryptorchidism, Abnormality of ... ORPHA:96092
Myopathic Ehlers-Danlos Syndrome
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Foot joint c... ORPHA:536516
Distal Duplication 5Q
Hypoplasia of the ulna, Ventricular septal defect, Dextrocardia, Prominent nasal bridge, Microgna... ORPHA:96097
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Mandibular prognathia, Malar flattening, Ventricular septal defect, Aplasia/Hypoplasia of the dis... ORPHA:94066
Distal Deletion 15Q
Bicuspid aortic valve, Micrognathia, Abnormal aortic arch morphology, Low 1-minute APGAR score, M... ORPHA:1596
Odontochondrodysplasia
Delayed eruption of teeth, Depressed nasal bridge, Micromelia, Patent ductus arteriosus, Short pa... ORPHA:166272
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... OMIM:143400
Surfactant Metabolism Dysfunction, Pulmonary, 3
Cyanosis, Crazy paving pattern, Nonspecific interstitial pneumonia, Nodular pattern on pulmonary ... OMIM:610921
Neuronal Intestinal Pseudoobstruction
Congenital diaphragmatic hernia ORPHA:99811
Distal Triplication 15Q
Abnormality of the kidney, Micrognathia, Patent ductus arteriosus, Hypoplastic aortic arch, Dilat... ORPHA:314588
Mitochondrial Myopathy And Sideroblastic Anemia
Short nose, Delayed puberty, Anemia, Micrognathia ORPHA:2598
Orofaciodigital Syndrome Xv
Hydronephrosis, Anteverted nares, Wide nasal bridge OMIM:617127
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Depressed nasal bridge, Polyhydramnios, Micromelia, Aplastic clavicle, Hydrops fetalis, Short rib... OMIM:616546
Microcephaly-Capillary Malformation Syndrome
Wide nose, Ventricular septal defect, Hypoplasia of the maxilla, Vesicoureteral reflux, Atrial se... OMIM:614261
Weill-Marchesani Syndrome
Short thumb, Aortic valve stenosis, Ventricular septal defect, Pulmonic stenosis ORPHA:3449
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect ORPHA:306550
Penile Agenesis
Urethral atresia, male, Ventricular septal defect, Depressed nasal bridge, Maternal diabetes, Hyd... ORPHA:49
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect OMIM:235750
Criss-Cross Heart
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... ORPHA:1461
Diamond-Blackfan Anemia 7
Macrocytic anemia, Ventricular septal defect, Choanal atresia, Polyhydramnios, Secundum atrial se... OMIM:612562
Atrial Septal Defect 1
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... OMIM:108800
Distal 7Q11.23 Microduplication Syndrome
Congenital diaphragmatic hernia ORPHA:261102
Gaucher Disease Type 3
Mitral valve calcification, Pancytopenia, Abnormal heart valve morphology, Proteinuria, Pericardi... ORPHA:77261
Zellweger Syndrome
Thickened nuchal skin fold, Multicystic kidney dysplasia, Ventricular septal defect, Depressed na... ORPHA:912
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Nonimmune hydrops fetalis, Polyhydramnios, Fetal akinesia sequence, Dilated cardiomyopathy, Hepat... ORPHA:367
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec... ORPHA:1686
Autosomal Dominant Coarctation Of Aorta
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... ORPHA:1455
Autosomal Recessive Omodysplasia
Depressed nasal bridge, Anteverted nares, Micromelia, Micrognathia, Rhizomelia, Cryptorchidism, I... ORPHA:93329
Galloway-Mowat Syndrome 7
Diffuse mesangial sclerosis, Ventricular septal defect, Proteinuria, Edema, Micrognathia, Minimal... OMIM:618348
Combined Oxidative Phosphorylation Deficiency 57
Nonimmune hydrops fetalis, Left ventricular noncompaction cardiomyopathy, Nephrogenic diabetes in... OMIM:620167
Oculoauriculofrontonasal Syndrome
Wide nose, Ventricular septal defect, Micrognathia, Bifid nasal tip, Underdeveloped nasal alae ORPHA:398156
Monosomy 18Q
Mandibular prognathia, Depressed nasal bridge, Absence of the pulmonary valve, Prominent nose, Se... ORPHA:1600
Cenani-Lenz Syndactyly Syndrome
Hypoplasia of the ulna, Renal agenesis, Micrognathia, Ectopic kidney, Hypoplasia of the radius, R... OMIM:212780
Chromosome 6Q24-Q25 Deletion Syndrome
Persistent fetal circulation, Anteverted nares, Patent ductus arteriosus, Dysplastic tricuspid va... OMIM:612863
Toluene Embryopathy
Micrognathia, Cryptorchidism, Abnormal localization of kidney, Hypoplasia of the zygomatic bone, ... ORPHA:1920
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Renal dysplasia, Ureteral duplication, Depressed nasal bridge, Anteverted nares, Polyhydramnios, ... OMIM:614080
Primary Pulmonary Hypoplasia
Recurrent respiratory infections, Cyanosis, Abnormal hemidiaphragm morphology, Pneumothorax, Hypo... ORPHA:2257
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Increased variability in muscle fiber diameter OMIM:617915
German Syndrome
Depressed nasal bridge, Lymphedema, Micrognathia, Cryptorchidism, Wide nasal bridge, Abnormal car... ORPHA:2077
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Calf muscle hypertrophy, Myopathy, Increased variability in muscle fiber diameter, Pelvic girdle ... ORPHA:119
Aorta Coarctation
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Patent ductus arteriosus, Hy... ORPHA:1457
Lessel-Kreienkamp Syndrome
Bicuspid aortic valve, Patent ductus arteriosus, Dental malocclusion, Wide nasal bridge, Pulmonic... OMIM:619149
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hypoplastic scapulae, Hypospadias, Micromelia, Hydrops fetalis, Renal cyst, Renal hypoplasia, Sho... OMIM:614091
Genitopatellar Syndrome
Delayed eruption of teeth, Wide nose, Multicystic kidney dysplasia, Prominent nasal bridge, Micro... ORPHA:85201
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Peroxisome Biogenesis Disorder 8A (Zellweger)
Ventricular septal defect OMIM:614876
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Myositis, Absent muscle fiber merosin, Facial palsy, Atelectasis, Flexion contracture, Macrogloss... ORPHA:258
Supravalvular Aortic Stenosis
Pulmonary artery stenosis, Peripheral arterial stenosis, Pulmonic stenosis OMIM:185500
Meacham Syndrome
Accessory spleen, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Patent ductus a... OMIM:608978
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Abnormality of the diaphragm, Pulmonary hypoplasia, Congenital diaphragmatic hernia OMIM:601163
Combined Oxidative Phosphorylation Deficiency 31
Increased variability in muscle fiber diameter, Left ventricular noncompaction, Increased intramy... OMIM:617228
Pallister-Hall Syndrome
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... OMIM:146510
Combined Oxidative Phosphorylation Deficiency 42
Decreased circulating cortisol level, Premature birth, Nonimmune hydrops fetalis, Cardiomyopathy,... OMIM:618839
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Hypoplasia of penis, Ventricular septal defect, Micromelia, Cryptorchidism, Single umbilical arte... ORPHA:2772
Periventricular Nodular Heterotopia 7
Microretrognathia, Ventricular septal defect, Anteverted nares, Micrognathia, Cryptorchidism, Sho... OMIM:617201
Ullrich Congenital Muscular Dystrophy 1
Torticollis, Reduced muscle collagen VI, Facial palsy, Flexion contracture, Muscle fiber necrosis... OMIM:254090
Combined Oxidative Phosphorylation Deficiency 40
Decreased circulating cortisol level, Premature birth, Nonimmune hydrops fetalis, Hypertrophic ca... OMIM:618835
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased variability in muscle fiber diameter OMIM:613752
Stickler Syndrome Type 1
Hypoplasia of the maxilla, Short nose, Mitral valve prolapse ORPHA:90653
Koolen-De Vries Syndrome
Ureteral duplication, Bicuspid aortic valve, Prominent nasal bridge, Abnormal dental enamel morph... ORPHA:96169
Hypomandibular Faciocranial Dysostosis
Micrognathia, Hypoplasia of the maxilla, Patent ductus arteriosus, Choanal stenosis, Atrial septa... OMIM:241310
Mgat2-Cdg
Impaired lymphocyte transformation with phytohemagglutinin, Ventricular septal defect, Abnormalit... ORPHA:79329
Meacham Syndrome
Hypoplasia of penis, Crossed fused renal ectopia, Ventricular septal defect, Situs inversus total... ORPHA:3097
Seizures, Benign Familial Infantile, 3
Cyanosis OMIM:607745
Intellectual Disability, Buenos-Aires Type
Mandibular prognathia, Dental malocclusion, Wide nasal bridge, Abnormal cardiac septum morphology... ORPHA:3079
Roifman Syndrome
Noncompaction cardiomyopathy, Short metacarpal, Ventricular septal defect, Anteverted nares, Prem... OMIM:616651
Respiratory Distress Syndrome In Premature Infants
Atelectasis, Pulmonary edema OMIM:267450
Developmental Delay With Or Without Dysmorphic Facies And Autism
Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Ventricular septal defect, Micr... OMIM:618454
Combined Oxidative Phosphorylation Defect Type 27
Nonimmune hydrops fetalis ORPHA:477774
Intellectual Developmental Disorder, Autosomal Dominant 47
Ventricular septal defect, Prominent nasal bridge, Supernumerary nipple, Cryptorchidism, Increase... OMIM:617635
Adenylosuccinate Lyase Deficiency
Short nose, Anteverted nares ORPHA:46
Filippi Syndrome
Ventricular septal defect, Underdeveloped nasal alae, Cryptorchidism, Low hanging columella, Wide... OMIM:272440
Campomelia, Cumming Type
Multicystic kidney dysplasia, Micromelia, Lymphedema, Pancreatic cysts, Hydrops fetalis, Multiple... ORPHA:1318
Vesicoureteral Reflux 3
Ureteropelvic junction obstruction, Grade IV vesicoureteral reflux, Recurrent urinary tract infec... OMIM:613674
Frontoocular Syndrome
Atrial septal defect, Prominent nasal bridge, Pulmonic stenosis, Micrognathia OMIM:605321
Li-Ghorbani-Weisz-Hubshman Syndrome
Ventricular septal defect, Depressed nasal bridge, Prominent nasal bridge, Patent ductus arterios... OMIM:618974
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Delayed eruption of teeth, Cryptorchidism, Patent ductus arteriosus, Hydronephrosis OMIM:619797
Mucopolysaccharidosis Type 7
Lymphedema, Splenomegaly, Hydrops fetalis, Mucopolysacchariduria, Arteriovenous malformation, Asc... ORPHA:584
10Q22.3Q23.3 Microduplication Syndrome
Microretrognathia, Tetralogy of Fallot, Hypospadias ORPHA:276422
Mckusick-Kaufman Syndrome
Urethral stricture, Multicystic kidney dysplasia, Ventricular septal defect, Renal hypoplasia/apl... ORPHA:2473
Congenital Heart Defects, Multiple Types, 3
Atrial septal defect, Tetralogy of Fallot, Persistent left superior vena cava, Abnormal heart mor... OMIM:614954
Macdermot-Winter Syndrome
Hydronephrosis OMIM:247990
Seizures, Benign Familial Infantile, 1
Cyanosis OMIM:601764
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Ventricular septal defect, Micrognathia, Nephrogenic diabetes insipidus, Oligohydramnios, Dehydra... OMIM:208085
Baller-Gerold Syndrome
Narrow nasal bridge, Aplasia/Hypoplasia of the thumb, Prominent nasal bridge, Micrognathia, Aplas... ORPHA:1225
Wolfram Syndrome 1
Sideroblastic anemia, Neurogenic bladder, Diabetes mellitus, Diabetes insipidus, Hydroureter, Meg... OMIM:222300
Craniofacioskeletal Syndrome
Absent gallbladder, Ventricular septal defect, Choanal atresia, Hypospadias, Micrognathia, Crypto... OMIM:300712
Harel-Yoon Syndrome
Mandibular prognathia, Hypertrophic cardiomyopathy, Short nose, Micrognathia OMIM:617183
Familial Nasal Acilia
Atelectasis, Recurrent upper respiratory tract infections, Bronchiectasis ORPHA:922
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Greenberg Dysplasia
Polyhydramnios, Micrognathia, Hypoplasia of the maxilla, Micromelia, Depressed nasal ridge, Hydro... OMIM:215140
Takenouchi-Kosaki Syndrome
Hypospadias, Increased mean platelet volume, Lymphedema, Unilateral renal agenesis, Cryptorchidis... OMIM:616737
Craniofacial-Deafness-Hand Syndrome
Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Hypoplasia of the maxilla, Depress... ORPHA:1529
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Myopathy, Increased variability in muscle fiber diameter OMIM:125250
Acrodysostosis 2 With Or Without Hormone Resistance
Mandibular prognathia, Short metacarpal, Diabetes mellitus, Depressed nasal bridge, Anteverted na... OMIM:614613
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Yunis-Varon Syndrome
Aplasia of the distal phalanges of the hand, Polyhydramnios, Cardiomegaly, Micrognathia, Aplasia/... ORPHA:3472
Atelis Syndrome 1
Ventricular septal defect, Prominent nose, Carious teeth, Thrombocytopenia, Leukopenia, Atrial se... OMIM:620184
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Fetal polyuria, Global glomerulosclerosis, Premature birth, Renal insufficiency... OMIM:602522
Thakker-Donnai Syndrome
Ventricular septal defect, Anteverted nares, Bulbous nose, Transposition of the great arteries, T... ORPHA:1780
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Natal tooth, Ventricular septal defect, Depressed nasal bridge, Proteinuria, Micrognathia, Hematu... OMIM:616901
Weiss-Kruszka Syndrome
Bicuspid aortic valve, Anteverted nares, Ventricular septal defect, Dextrotransposition of the gr... OMIM:618619
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Mandibular prognathia, Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Prominen... OMIM:612474
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Diabetes mellitus, Bicuspid aortic valve, Anteverted nares, Prominent nasal bridge, Ventricular s... ORPHA:500159
Baraitser-Winter Syndrome 1
Bicuspid aortic valve, Anteverted nares, Cryptorchidism, Patent ductus arteriosus, Wide nasal bri... OMIM:243310
Pierpont Syndrome
Wide nose, Broad nasal tip, Cryptorchidism, Short toe, Micropenis, Short foot, Short finger, Shor... OMIM:602342
Surfactant Metabolism Dysfunction, Pulmonary, 2
Cyanosis, Spontaneous pneumothorax, Nonspecific interstitial pneumonia, Intralobular septal thick... OMIM:610913
Hypophosphatemic Rickets, Autosomal Recessive, 2
Hyperphosphaturia, Carious teeth, Hypoplasia of teeth, Pulmonic stenosis, Medullary nephrocalcinosis OMIM:613312
Lowry-Maclean Syndrome
Hypospadias, Choanal atresia, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the ... ORPHA:2409
Lambert Syndrome
Malar flattening, Ventricular septal defect, Hypospadias ORPHA:1296
Weyers Ulnar Ray/Oligodactyly Syndrome
Absent thumb, Micrognathia, Hypoplasia of the radius, Hand oligodactyly, Aplasia/Hypoplasia of th... OMIM:602418
Tetraamelia Syndrome 2
Microretrognathia, Absent nipple, Ventricular septal defect, Hypoplastic pulmonary veins, Microgn... OMIM:618021
Proximal Myopathy With Extrapyramidal Signs
Increased variability in muscle fiber diameter, Central core regions in muscle fibers, Centrally ... ORPHA:401768
Pallister-Hall-Like Syndrome
Depressed nasal bridge, Micromelia, Micrognathia, Micropenis, Short ribs, Short nose, Anterior hy... OMIM:241800
Achondrogenesis, Type Ii
Microretrognathia, Polyhydramnios, Edema, Hydrops fetalis, Short ribs OMIM:200610
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Hypoplasia of the ... OMIM:300400
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Complete atrioventricular canal defect, Coarctation of aorta, Subvalvular aortic stenosis OMIM:217085
Fraser Syndrome 2
Wide nose, Renal agenesis, Unilateral renal agenesis, Underdeveloped nasal alae, Renal hypoplasia... OMIM:617666
Congenital Myopathy 4A, Autosomal Dominant
Type 1 fibers relatively smaller than type 2 fibers, Limb joint contracture, Facial palsy, Centra... OMIM:255310
Timothy Syndrome
Ventricular septal defect, Depressed nasal bridge, Cardiomegaly, Hypothyroidism, Patent ductus ar... OMIM:601005
16P12.1P12.3 Triplication Syndrome
Decreased response to growth hormone stimulation test, Bilateral cryptorchidism, Bulbous nose, Ab... ORPHA:485405
Orofaciodigital Syndrome Xvii
Prominent nose, Short middle phalanx of the 2nd finger, Retrognathia, Renal hypoplasia, Micropeni... OMIM:617926
Mucopolysaccharidosis, Type Vii
Abnormal heart valve morphology, Heparan sulfate excretion in urine, Hypoplasia of the odontoid p... OMIM:253220
Chromosome 5Q12 Deletion Syndrome
Ventricular septal defect, Prominent nose, Micrognathia, Increased nuchal translucency, Patent du... OMIM:615668
Noonan Syndrome 8
Ventricular septal defect, Polyhydramnios, Cryptorchidism, Patent ductus arteriosus, Pleural effu... OMIM:615355
Farber Disease
Skeletal muscle atrophy, Nodular pattern on pulmonary HRCT, Atelectasis, Flexion contracture, Rec... ORPHA:333
Chung-Jansen Syndrome
Anteverted nares, Micrognathia, Cryptorchidism, Short nose, Meconium stained amniotic fluid OMIM:617991
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Secundum atrial septal defect, Pulmonic stenosis OMIM:178650
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Ventricular septal defect, Depressed nasal bridge, Anteverted nares, Pulmonary artery stenosis, A... ORPHA:75389
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Diabetes mellitus, Ventricular septal defect, Situs inversus totalis, Crypt... OMIM:249270
Urofacial Syndrome 1
Recurrent urinary tract infections, Hydroureter, Urethral valve, Cryptorchidism, Urethral obstruc... OMIM:236730
Chromosome 19Q13.11 Deletion Syndrome, Distal
Anteverted nares, Hypospadias, Underdeveloped nasal alae, Micrognathia, Carious teeth, Cryptorchi... OMIM:613026
Duane-Radial Ray Syndrome
Hypoplasia of the ulna, Abnormal nasopharynx morphology, Short humerus, Ventricular septal defect... OMIM:607323
Aortic Valve Disease 2
Bicuspid aortic valve, Calcification of the aorta, Aortic tortuosity, Coarctation of aorta, Ascen... OMIM:614823
Cranioectodermal Dysplasia 2
Renal insufficiency, Depressed nasal bridge, Rhizomelia, Polyhydramnios, Micrognathia, Splenomega... OMIM:613610
Noonan Syndrome 6
Juvenile myelomonocytic leukemia, Depressed nasal bridge, Edema, Polyhydramnios, Cryptorchidism, ... OMIM:613224
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Mandibular prognathia, Micrognathia, Cryptorchidism, 3-Methylglutaconic aciduria, Delayed puberty... ORPHA:496790
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect OMIM:617044
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Peripheral pulmonary artery stenosis, Wide nose, Hypoplasia of the bladder, Bicuspid aortic valve... OMIM:300707
Mosaic Variegated Aneuploidy Syndrome 1
Wide nose, Multicystic kidney dysplasia, Depressed nasal bridge, Anteverted nares, Hypospadias, M... OMIM:257300
Renal And Mullerian Duct Hypoplasia
Micrognathia, Renal hypoplasia, Horseshoe kidney, Hydrocele testis, Anteriorly displaced urethral... OMIM:266810
Interstitial Pneumonitis, Desquamative, Familial
Desquamative interstitial pneumonitis, Cyanosis, Recurrent upper respiratory tract infections, Ty... OMIM:263000
Ciliary Dyskinesia, Primary, 20
Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Pulmonary... OMIM:615067
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Alg8-Cdg
Premature birth, Edema, Thrombocytopenia, Hydrops fetalis, Ascites, Anemia, Oligohydramnios ORPHA:79325
Chromosome 15Q14 Deletion Syndrome
Atrial septal defect, Recurrent viral upper respiratory tract infections, Ventricular septal defect OMIM:616898
Noonan Syndrome 9
Hydroureter, Ventricular septal defect, Cryptorchidism, Coarctation of aorta, Pulmonic stenosis OMIM:616559
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Absent nipple, Depressed nasal bridge, Patent ductus arteriosus, Wide nasal bridge, Mitral valve ... OMIM:104350
Microform Holoprosencephaly
Narrow nasal bridge, Hypoplasia of penis, Midnasal stenosis, Anteverted nares, Choanal atresia, P... ORPHA:280200
Mitral Valve Prolapse 3
Mitral valve prolapse OMIM:610840
Mitral Valve Prolapse 2
Mitral valve prolapse OMIM:607829
Severe X-Linked Intellectual Disability, Gustavson Type
Ventricular septal defect, Micrognathia, Recurrent upper respiratory tract infections, Vesicouret... ORPHA:3078
Czeizel-Losonci Syndrome
Thickened nuchal skin fold, Dextrocardia, Micrognathia, Ureteral agenesis, Congenital megaureter,... ORPHA:2437
Intellectual Disability-Strabismus Syndrome
Decreased serum insulin-like growth factor 1, Depressed nasal bridge, Decreased response to growt... ORPHA:363528
Trigonocephaly With Short Stature And Developmental Delay
Convex nasal ridge, Ventricular septal defect, Wide nasal bridge OMIM:314320
Urofacial Syndrome 2
Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti... OMIM:615112
Acromicric Dysplasia
Short metacarpal, Anteverted nares, Bulbous nose, Small hand, Short palm, Short nose ORPHA:969
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Mandibular prognathia, Ventricular septal defect, Depressed nasal bridge, Anteverted nares, Hypos... OMIM:301040
X-Linked Intellectual Disability, Schimke Type
Narrow nasal bridge, Vesicoureteral reflux, Hydronephrosis ORPHA:85285
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Depressed nasal bridge, Anteverted nares, Patent ductus arteriosus, Short ribs, Limb undergrowth,... OMIM:618961
Sarcosinemia
Hypersarcosinuria, Hypertrophic cardiomyopathy, Pulmonic stenosis ORPHA:3129
Braddock-Carey Syndrome 1
Multicystic kidney dysplasia, Aortic valve prolapse, Ventricular septal defect, Anteverted nares,... OMIM:619980
9Q21.13 Microdeletion Syndrome
Hydronephrosis, Cryptorchidism, Wide nasal ridge, Abnormal heart morphology ORPHA:531151
Donnai-Barrow Syndrome
Ventricular septal defect, Short nose, Depressed nasal bridge, Proteinuria ORPHA:2143
Lambotte Syndrome
Retrognathia, Ventricular septal defect, Convex nasal ridge OMIM:245552
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cryptorchidism, Ventricular septal defect, Cystic renal dysplasia, Ectopic kidney OMIM:613730
6P22 Microdeletion Syndrome
Patent ductus arteriosus, Hydronephrosis ORPHA:251046
Axial Mesodermal Dysplasia Spectrum
Premature birth, Micrognathia, Missing ribs, Abnormality of the spleen, Renal hypoplasia/aplasia,... ORPHA:1834
Brachytelephalangic Chondrodysplasia Punctata
Short distal phalanx of finger, Ventricular septal defect, Broad nasal tip, Hypoplasia of the max... ORPHA:79345
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Diabetes mellitus, Hydroureter, Megaloblastic anemia, Neutropenia, Diabetes... OMIM:598500
Mitochondrial Trifunctional Protein Deficiency 1
Abnormality of the amniotic fluid, Myoglobinuria, Dilated cardiomyopathy, Hydrops fetalis OMIM:609015
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Fatty replacement of skeletal muscle, Myopathy, Increased variability in muscle fiber diameter, E... ORPHA:397744
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Microretrognathia, Depressed nasal bridge, Anteverted nares, Ventricular septal defect, Micromeli... OMIM:618870
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Duplicated collecting system, Bilateral fetal pyelectasis, Depressed nasal bridge, Anteverted nar... OMIM:300868
Arthrogryposis Multiplex Congenita 6
Increased variability in muscle fiber diameter, Nemaline bodies, Arthrogryposis multiplex congenita OMIM:619334
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Prominent nasal bridge, Cardiomegaly, Bilateral cryptorchidism, Patent... OMIM:618652
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Increased mean platelet volume, Patent ductus arteriosus, Increased size of the mandible, Hydrone... OMIM:300048
Cap Myopathy
Facial palsy, Abnormal muscle fiber morphology, Lower limb amyotrophy, Generalized amyotrophy, In... ORPHA:171881
Pseudotrisomy 13 Syndrome
11 pairs of ribs, Ventricular septal defect, Dextrocardia, Adrenal hypoplasia, Renal agenesis, Co... OMIM:264480
Schneckenbecken Dysplasia
Hypoplastic scapulae, Nonimmune hydrops fetalis, Polyhydramnios, Short ribs, Limb undergrowth, Ma... OMIM:269250
Congenital Disorder Of Glycosylation, Type Ia
Pericarditis, Depressed nasal bridge, Nonimmune hydrops fetalis, Edema, Hypergonadotropic hypogon... OMIM:212065
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Convex nasal ridge, Ventricular septal defect, Wide nasal bridge ORPHA:3369
Potocki-Shaffer Syndrome
Short nose, Micropenis, Wide nasal bridge, Underdeveloped nasal alae OMIM:601224
Long Qt Syndrome 3
Nonimmune hydrops fetalis, Hydrops fetalis OMIM:603830
Vacterl/Vater Association
Hypoplasia of penis, Multicystic kidney dysplasia, Premature birth, Hypospadias, Polyhydramnios, ... ORPHA:887
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Unilateral renal agen... ORPHA:363444
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Mandibular prognathia, Depressed nasal bridge, Ventricular septal defect, Cryptorchidism, Bulbous... ORPHA:369891
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Increased endomysial connecti... OMIM:620278
Myoclonus, Intractable, Neonatal
Increased variability in muscle fiber diameter OMIM:617235
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Ventricular septal defect, Pancreatic fibrosis, Hydrops fetalis, Disproportionate shortening of t... OMIM:263520
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Rhizomelia, Ventricular septal defect, Wide nasal bridge, Micrognathia ORPHA:93267
Joubert Syndrome 35
Recurrent urinary tract infections, Multicystic kidney dysplasia, Depressed nasal bridge, Antever... OMIM:618161
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Recurrent urinary tract infections, Ventricular septal defect, Splenomegaly, Coarctation of aorta... OMIM:620210
Melnick-Needles Syndrome
Delayed eruption of teeth, Craniofacial hyperostosis, Micrognathia, Abnormal cardiac septum morph... ORPHA:2484
Microcephaly 26, Primary, Autosomal Dominant
Prominent nasal bridge, Wide nasal bridge, Short nose, Patent foramen ovale, Hydronephrosis OMIM:619179
Keutel Syndrome
Wide nose, Ventricular septal defect, Depressed nasal bridge, Underdeveloped nasal alae, Pulmonar... ORPHA:85202
Phocomelia, Schinzel Type
Hypoplasia of penis, Micromelia, Micrognathia, Aplasia of the ulna, Cryptorchidism, Hypoplasia of... ORPHA:2879
Cerebellar-Facial-Dental Syndrome
Ventricular septal defect, Anteverted nares, Micrognathia, Cryptorchidism, Dental malocclusion, W... ORPHA:444072
Creatine Phosphokinase, Elevated Serum
Abnormal muscle fiber morphology, Myopathy, Inflammatory myopathy, Muscular dystrophy, EMG: myopa... OMIM:123320
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hydronephrosis, Pulmonic stenosis OMIM:620141
Char Syndrome
Ventricular septal defect, Depressed nasal bridge, Supernumerary nipple, Persistence of primary t... ORPHA:46627
Neurofibromatosis-Noonan Syndrome
Cryptorchidism, Hypertrophic cardiomyopathy, Abnormality of the lymphatic system, Pulmonic stenosis ORPHA:638
Coffin-Siris Syndrome 7
Wide nose, Depressed nasal bridge, Anteverted nares, Bicuspid aortic valve, Ventricular septal de... OMIM:618027
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect OMIM:212090
C Syndrome
Short metacarpal, Ventricular septal defect, Anteverted nares, Micromelia, Micrognathia, Cryptorc... OMIM:211750
Developmental And Epileptic Encephalopathy 73
Narrow nasal bridge, Short nose OMIM:618379
Rhizomelic Dysplasia, Patterson-Lowry Type
Mandibular prognathia, Short humerus, Wide nose, Short metacarpal, Rhizomelia, Depressed nasal ri... ORPHA:2831
Recurrent Respiratory Papillomatosis
Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract infections, Recurrent pn... ORPHA:60032
Charge Syndrome
Decreased response to growth hormone stimulation test, Polyhydramnios, Micrognathia, Secundum atr... OMIM:214800
Multifocal Atrial Tachycardia
Ventricular septal defect, Hypothyroidism, Cryptorchidism, Pulmonic stenosis, Atrial septal defec... ORPHA:3282
Seckel Syndrome 9
Decreased fetal movement, Recurrent urinary tract infections, Ventricular septal defect, Polyhydr... OMIM:616777
Distal Duplication 6P
Prominent nasal bridge, Micrognathia, Renal hypoplasia, Abnormality of the urinary system, Hydron... ORPHA:1745
Intellectual Developmental Disorder, Autosomal Dominant 48
Bicuspid aortic valve, Ventricular septal defect, Anteverted nares, Prominent nasal bridge, Hypos... OMIM:617751
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Anteverted nares, Micrognathia, Cryptorchidism, Wide nasal bridge, Short nose OMIM:618577
Tyshchenko Syndrome
Ventricular septal defect, Premature birth, Polyhydramnios, Supernumerary nipple, Cryptorchidism,... OMIM:615102
Joubert Syndrome 18
Retrognathia, Ventricular septal defect, Renal cyst, Horseshoe kidney OMIM:614815
Congenital Disorder Of Glycosylation, Type Iie
Wide nose, Neurogenic bladder, Micrognathia, Secundum atrial septal defect, Splenomegaly, Perimem... OMIM:608779
Oligomeganephronia
Renal insufficiency, Pulmonary venous occlusion, Premature birth, Proteinuria, Unilateral renal a... ORPHA:2260
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Mandibular prognathia, Short nose ORPHA:2429
Aminopterin/Methotrexate Embryofetopathy
Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Ventricular septal defect, Micromelia, Mi... ORPHA:1908
Trisomy 8P
Short fourth metatarsal, Short fifth metatarsal, Depressed nasal bridge, Anteverted nares, Abnorm... ORPHA:264450
Mandibulofacial Dysostosis-Microcephaly Syndrome
Micrognathia, Hypoplasia of the maxilla, Atrial septal defect, Malar flattening, Short nose ORPHA:79113
Breath-Holding Spells
Cyanosis OMIM:607578
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis ORPHA:71277
Melanocytic Nevus Syndrome, Congenital
Prominence of the premaxilla, Anteverted nares, Narrow nasal ridge, Broad nasal tip, Short nose OMIM:137550
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Pneumonia, Bronchitis, Atelectasis, Recurrent pneumonia ORPHA:3348
Cat-Eye Syndrome
Hydronephrosis, Abnormal localization of kidney, Renal hypoplasia/aplasia ORPHA:195
Diaphanospondylodysostosis
Nephrogenic rest, Depressed nasal bridge, Micrognathia, Missing ribs, Increased nuchal translucen... OMIM:608022
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Depressed nasal bridge, Choanal atresia, Abnormality of thyroid physiology, Prominent nose, Bulbo... OMIM:300968
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Spinal muscular atrophy, Flexion contracture, Increased variability in muscle fiber diameter, Gen... OMIM:616866
Kury-Isidor Syndrome
Ventricular septal defect, Anteverted nares, Hydronephrosis OMIM:619762
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Aplasia of the distal phalanx of the 2nd finger, Hypoplastic scapulae, Depressed nasal bridge, Ad... OMIM:308050
Frank-Ter Haar Syndrome
Depressed nasal bridge, Anteverted nares, Ventricular septal defect, Broad nasal tip, Secundum at... OMIM:249420
3P25.3 Microdeletion Syndrome
Mandibular prognathia, Depressed nasal bridge, Anteverted nares, Ventricular septal defect, Promi... ORPHA:435638
Vater/Vacterl Association
Renal dysplasia, Abnormal nasopharynx morphology, Ventricular septal defect, Choanal atresia, Hyp... OMIM:192350
Eosinophilic Fasciitis
Muscular edema, Myositis, Acrocyanosis ORPHA:3165
Hinman Syndrome
Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone... ORPHA:84085
Mandibulofacial Dysostosis, Guion-Almeida Type
Ventricular septal defect, Anteverted nares, Choanal atresia, Micrognathia, Atrial septal defect,... OMIM:610536
Al-Raqad Syndrome
Atrial septal defect, Short nose OMIM:616459
Phosphoribosylaminoimidazole Carboxylase Deficiency
Anteverted nares, Choanal atresia, Depressed nasal bridge, Polyhydramnios, Missing ribs, Bilatera... OMIM:619859
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventricular septal defect, Depressed nasal bridge, Nephroblastoma, Leukemia OMIM:602501
Snijders Blok-Campeau Syndrome
Prominent nose, Wide nasal bridge, Perimembranous ventricular septal defect, Taurodontia, Pulmoni... OMIM:618205
Hemochromatosis, Neonatal
Nonimmune hydrops fetalis, Oligohydramnios OMIM:231100
Fatty Acyl-Coa Reductase 1 Deficiency
Short nose, Depressed nasal bridge ORPHA:438178
Chondrodysplasia Punctata 1, X-Linked Recessive
Depressed nasal bridge, Anosmia, Hypogonadism, Short nose, Short nasal septum, Short distal phala... OMIM:302950
Holoprosencephaly 13, X-Linked
Ventricular septal defect, Micrognathia, Patent ductus arteriosus, Hypoplastic left heart, Aplasi... OMIM:301043
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Depressed nasal bridge, Ventricular septal defect, Micrognathia, Bulbous nose, Patent ductus arte... OMIM:617061
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Abnorma... ORPHA:3092
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Limb joint contracture, Cyanotic episode, Ankle flexion contracture, Knee flexion contracture ORPHA:284417
Noonan Syndrome 3
Juvenile myelomonocytic leukemia, Hypoplastic nasal bridge, Anteverted nares, Ventricular septal ... OMIM:609942
Igg4-Related Aortitis
Thoracic aortic aneurysm, Hypereosinophilia, Abnormal aortic arch morphology, Ascending tubular a... ORPHA:449400
Craniodigital-Intellectual Disability Syndrome
Narrow nasal bridge, Short nose, Micrognathia ORPHA:1514
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Wide nose, Depressed nasal bridge, Anteverted nares, Micromelia, Cardiomegaly, Short ribs, Short ... OMIM:613320
Ciliary Dyskinesia, Primary, 30
Nasal polyposis, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Nasal congestio... OMIM:616037
Chromosome 6Q11-Q14 Deletion Syndrome
Prominent nasal bridge, Micrognathia, Bilateral cryptorchidism, Broad nasal tip, Short nose OMIM:613544
Congenital Heart Defects And Skeletal Malformations Syndrome
Ventricular septal defect, Hypospadias, Long nose, Carious teeth, Cryptorchidism, Coarctation of ... OMIM:617602
Inverted Duplicated Chromosome 15 Syndrome
Ventricular septal defect, Unilateral renal agenesis, Broad nasal tip, Precocious puberty, Crypto... ORPHA:3306
Encephalocraniocutaneous Lipomatosis
Ventricular septal defect, Cryptorchidism, Subvalvular aortic stenosis, Atrial septal defect, Pel... OMIM:613001
Marfanoid Habitus With Situs Inversus
Mandibular prognathia, Situs inversus totalis, Mitral valve prolapse, Aortic root aneurysm, Pulmo... OMIM:609008
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cryptorchidism, Hypoplasia of penis, Tetralogy of Fallot, Hypospadias ORPHA:1381
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Thickened nuchal skin fold, Increased urine alpha-ketoglutarate concentration, Ventricular septal... OMIM:220500
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Short nose, Micrognathia ORPHA:1495
17P13.3 Microduplication Syndrome
Wide nose, Hypoplasia of penis, Short nose ORPHA:217385
Galactosialidosis
Cherry red spot of the macula, Nonimmune hydrops fetalis, Hepatosplenomegaly OMIM:256540
Kleefstra Syndrome Due To 9Q34 Microdeletion
Hypoplasia of penis, Renal insufficiency, Anteverted nares, Cryptorchidism, Conotruncal defect, C... ORPHA:96147
Transaldolase Deficiency
Pancytopenia, Ventricular septal defect, Depressed nasal bridge, Thrombocytopenia, Patent ductus ... OMIM:606003
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bicuspid aortic valve, Ventricular septal defect, Underdeveloped nasal alae, Abnormal bladder mor... ORPHA:453499
Fg Syndrome 5
Depressed nasal bridge, Hypospadias, Anteverted nares, Short nose OMIM:300581
Degcags Syndrome
Polyhydramnios, Prominent nose, Micrognathia, Bilateral renal hypoplasia, Leukopenia, Iron defici... OMIM:619488
Peho Syndrome
Edema of the dorsum of feet, Edema, Edema of the dorsum of hands, Short nose, Retrognathia OMIM:260565
Amyotrophic Lateral Sclerosis 21
Centrally nucleated skeletal muscle fibers, Hand muscle weakness, Shoulder girdle muscle weakness... OMIM:606070
Rhizomelic Syndrome, Urbach Type
Rhizomelia, Depressed nasal bridge, Micrognathia, Pulmonic stenosis, Short distal phalanx of finger ORPHA:3098
Craniofacial Dyssynostosis With Short Stature
Ventricular septal defect, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Horseshoe kidne... OMIM:218350
Hypomandibular Faciocranial Dysostosis
Anteverted nares, Polyhydramnios, Patent ductus arteriosus, Choanal stenosis, Atrial septal defec... ORPHA:1790
Monosomy 13Q34
Prominent nasal bridge, Epistaxis, Broad nasal tip, Prominent nose, Micrognathia, Fetal pyelectas... ORPHA:96168
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Ventricular septal defect, Persistence of primary teeth, Patent ductus arteriosus, Recurrent uppe... OMIM:619769
Noonan Syndrome 5
Mandibular prognathia, Depressed nasal bridge, Polyhydramnios, Cryptorchidism, Pulmonic stenosis,... OMIM:611553
Congenital Gerbode Defect
Ventricular septal defect, Right atrial enlargement, Pedal edema, Perimembranous ventricular sept... ORPHA:99095
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Anteverted nares, Micrognathia, Abnormal cardiac ventricle morphology, Pat... ORPHA:2306
Acrodysostosis
Mandibular prognathia, Hypoplasia of the ulna, Short metacarpal, Delayed eruption of teeth, Antev... ORPHA:950
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, S... OMIM:224120
Diamond-Blackfan Anemia 10
Macrocytic anemia, Ventricular septal defect, Choanal atresia, Micrognathia, Ectopic kidney, Pate... OMIM:613309
Combined Immunodeficiency-Enteropathy Spectrum
Autoimmune hemolytic anemia, Ventricular septal defect, Polyhydramnios, Hypoplasia of the thymus,... ORPHA:436252
Presynaptic Congenital Myasthenic Syndromes
Recurrent respiratory infections, Cyanosis, Limb-girdle muscle weakness, Distal amyotrophy, Muscl... ORPHA:98914
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Delayed eruption of teeth, Ureteropelvic junction obstruction, Duplicated collecting system, Depr... OMIM:280000
Congenital Myasthenic Syndrome
Recurrent respiratory infections, Cyanosis, Limb-girdle muscle weakness, Distal amyotrophy, Muscl... ORPHA:590
Pearson Syndrome
Decreased response to growth hormone stimulation test, Hydrops fetalis, Dehydration, Renal cyst, ... ORPHA:699
Diamond-Blackfan Anemia 5
Macrocytic anemia, Ventricular septal defect, Hypospadias, Erythroid hypoplasia, Reticulocytopeni... OMIM:612528
Mesomelia-Synostoses Syndrome
Micromelia, Micrognathia, Bulbous nose, Short foot, Hydronephrosis, Mesomelia, Malar flattening, ... ORPHA:2496
Giant Cell Arteritis
Pericarditis, Renal insufficiency, Diabetes insipidus, Epistaxis, Recurrent pharyngitis, Mediasti... ORPHA:397
Phosphoserine Aminotransferase Deficiency
Cyanotic episode OMIM:610992
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Short nose OMIM:245570
Otopalatodigital Syndrome Type 2
Abnormal heart valve morphology, Depressed nasal bridge, Short hallux, Micrognathia, Hypospadias,... ORPHA:90652
Femoral-Facial Syndrome
Short femur, Maternal diabetes, Micrognathia, Renal hypoplasia/aplasia, Cryptorchidism, Long peni... ORPHA:1988
Trisomy 12P
Thickened nuchal skin fold, Supernumerary nipple, Micrognathia, Wide nasal bridge, Abnormality of... ORPHA:1699
Treacher-Collins Syndrome
Hypoplasia of penis, Abnormal dental enamel morphology, Choanal atresia, Micrognathia, Hypoplasia... ORPHA:861
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Narrow nasal bridge, 11 pairs of ribs, Ventricular septal defect, Depressed nasal bridge, Microgn... OMIM:620073
Mosaic Variegated Aneuploidy Syndrome 2
Depressed nasal bridge, Ventricular septal defect, Rhizomelia, Micrognathia, Decreased response t... OMIM:614114
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Patent ductus arteriosus after premature birth, Micrognathia, Renal hypopla... OMIM:618460
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
High Altitude Pulmonary Edema
Hypoxemia, Cyanosis, Pulmonary opacity, Pulmonary edema ORPHA:330012
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Ventricular septal defect ORPHA:357225
Ohdo Syndrome
Depressed nasal bridge, Anteverted nares, Proteinuria, Micrognathia, Cryptorchidism, Wide nasal b... OMIM:249620
Joubert Syndrome 37
Wide nose, Anteverted nares, Cryptorchidism, Wide nasal bridge, Hydronephrosis, Micropenis, Decre... OMIM:619185
Thiamine-Responsive Megaloblastic Anemia Syndrome
Diabetes mellitus, Ventricular septal defect, Megaloblastic anemia, Stroke, Atrial septal defect,... ORPHA:49827
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Stage 2 chronic kidney disea... OMIM:191800
Congenital Disorder Of Glycosylation, Type Iig
Renal insufficiency, Rhizomelia, Anteverted nares, Hypospadias, Micrognathia, Hemolytic-uremic sy... OMIM:611209
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Aplasia/Hypoplasia of the radius, Hypoplastic left heart, Ventricular septal defect ORPHA:2476
Pulmonary Capillary Hemangiomatosis
Cyanosis, Pulmonary edema, Diffuse alveolar hemorrhage, Ground-glass opacification, Pulmonary cap... ORPHA:199241
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Depressed nasal bridge, Anteverted nares, Recurrent upper respiratory tract infections, B lymphoc... OMIM:614069
Hypoplastic Left Heart Syndrome
Mitral atresia, Patent ductus arteriosus, Hypoplastic left heart, Atrial septal defect, Mitral st... ORPHA:2248
Microlissencephaly-Micromelia Syndrome
11 pairs of ribs, Hypoparathyroidism, Palpebral edema, Polyhydramnios, Micromelia, Fetal pyelecta... ORPHA:50810
Mosaic Trisomy 16
Ventricular septal defect, Premature birth, Maternal diabetes, Abnormality of the nose, Hypospadi... ORPHA:1708
X-Linked Lissencephaly With Abnormal Genitalia
Hypoplasia of penis, Ventricular septal defect, Micrognathia, Cryptorchidism, Patent ductus arter... ORPHA:452
Developmental And Epileptic Encephalopathy 66
Ventricular septal defect, Dextrocardia, Cryptorchidism, Wide nasal bridge, Neutropenia, Atrial s... OMIM:618067
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Depressed nasal bridge, Decreased response to growth hormone stimulation test, Adrenal hypoplasia... OMIM:614732
Chiari Malformation Type Ii
Limb muscle weakness, Cyanosis OMIM:207950
Pericardial And Diaphragmatic Defect
Congenital diaphragmatic hernia, Hypoxemia, Aplasia of the left hemidiaphragm, Pulmonary hypoplas... ORPHA:2847
Basel-Vanagaite-Smirin-Yosef Syndrome
Ventricular septal defect, Anteverted nares, Hypospadias, Atrial septal defect, Retrognathia, Hyd... OMIM:616449
Greig Cephalopolysyndactyly Syndrome
Congenital diaphragmatic hernia ORPHA:380
Au-Kline Syndrome
Thickened nuchal skin fold, Prominent nasal bridge, Wide nasal ridge, Underdeveloped nasal alae, ... OMIM:616580
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cryptorchidism, Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale, Hydronephrosis OMIM:620327
Congenital Disorder Of Glycosylation, Type Iil
Peau d'orange, Pancytopenia, Ventricular septal defect, Unilateral renal agenesis, Splenomegaly, ... OMIM:614576
Diaphragmatic Hernia 2
Agenesis of the diaphragm, Congenital diaphragmatic hernia OMIM:222400
Chondrodysplasia With Joint Dislocations, Gpapp Type
Short metacarpal, Micrognathia, Short toe, Wide nasal bridge, Short foot, Limb undergrowth, Short... OMIM:614078
Baraitser-Winter Cerebrofrontofacial Syndrome
Wide nose, Hydroureter, Palpebral edema, Transient ischemic attack, Abnormality of the upper urin... ORPHA:2995
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Cryptorchidism, Slender nose, Short nose, Micrognathia OMIM:615419
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Ventricular septal defect, Prominent nasal bridge, Polyhydramnios, Hypospadias, Unilateral renal ... ORPHA:464311
Eec Syndrome
Aplasia/Hypoplasia of the thumb, Hypospadias, Abnormal dental enamel morphology, Choanal atresia,... ORPHA:1896
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Unilateral cryptorchidism, Abnormal pulmonary valve morphology, Pulmonic stenosis, Broad nasal tip ORPHA:137634
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Skeletal muscle atrophy, Facial palsy, Ragged-red muscle fibers, Increased variability in muscle ... OMIM:258450
Leopard Syndrome 1
Mandibular prognathia, Hypospadias, Unilateral renal agenesis, Missing ribs, Delayed menarche, Co... OMIM:151100
Noonan Syndrome 2
Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Polyhydramnios, Micr... OMIM:605275
Acrocallosal Syndrome
Congenital diaphragmatic hernia ORPHA:36
Cardiac-Urogenital Syndrome
Patent urachus, Scimitar anomaly, Atrial septal defect, Micropenis, Mesocardia, Penoscrotal hypos... OMIM:618280
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Wide nose, Eosinophilia, Micrognathia, Pulmonic stenosis, Recurrent sinusitis, Atrial septal defect OMIM:618282
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Glomerulopathy, Renal insufficiency, Ketonuria, Megaloblastic anemia, Hemolytic-uremic syndrome, ... ORPHA:79282
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Cryptorchidism, Short nose, Depressed nasal bridge, Hypospadias OMIM:616910
Fanconi Anemia, Complementation Group I
Ventricular septal defect, Decreased response to growth hormone stimulation test, Absent thumb, S... OMIM:609053
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Ventricular septal defect, Patent ductus arteriosus, Arteria lusoria, Abnormal aortic arch morpho... ORPHA:99050
Pde4D Haploinsufficiency Syndrome
Mandibular prognathia, Short metacarpal, Depressed nasal bridge, Abnormal dental enamel morpholog... ORPHA:439822
Congenital Myopathy 22B, Severe Fetal
Decreased fetal movement, Nonimmune hydrops fetalis, Polyhydramnios, Micrognathia, Breech present... OMIM:620369
Pelger-Huet Anomaly
Ventricular septal defect, Depressed nasal bridge, Abnormality of neutrophils, Thrombocytopenia, ... OMIM:169400
46,Xy Sex Reversal 4
Renal dysplasia, Anteverted nares, Hypergonadotropic hypogonadism, Micrognathia, Prominent nose, ... OMIM:154230
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Ventricular septal defect, Diastasis recti, Polyhydramnios, Abnormal heart morphology ORPHA:254534
Developmental And Epileptic Encephalopathy 75
Cardiomyopathy, Short nose, Anteverted nares, Wide nasal bridge OMIM:618437
Micro Syndrome
Hypoplasia of penis, Anteverted nares, Micrognathia, Cryptorchidism, Wide nasal bridge, Abnormal ... ORPHA:2510
Kawasaki Disease
Pericarditis, Abnormal heart valve morphology, Proteinuria, Edema, Recurrent pharyngitis, Myocard... ORPHA:2331
Cardiofaciocutaneous Syndrome 3
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis OMIM:615279
Trichothiodystrophy 4, Nonphotosensitive
Ventricular septal defect, Anteverted nares, Hypoplasia of teeth, Short nose, Retrognathia OMIM:234050
Intellectual Developmental Disorder, Autosomal Recessive 71
Cryptorchidism, Micropenis, Ventricular septal defect, Unilateral renal agenesis OMIM:618504
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Depressed nasal bridge, Anteverted nares, Hypospadias, Micrognathia, Cryptorchidism, Patent ductu... OMIM:217980
Cardiofaciocutaneous Syndrome 1
Depressed nasal bridge, Anteverted nares, Premature birth, Polyhydramnios, Micrognathia, Splenome... OMIM:115150
Ochoa Syndrome
Recurrent urinary tract infections, Renal insufficiency, Urinary incontinence, Cryptorchidism, Ur... ORPHA:2704
Congenital Fibrinogen Deficiency
Cyanosis, Left ventricular hypertrophy, Bruising susceptibility, Subcutaneous hemorrhage, Right v... ORPHA:335
Typical Nemaline Myopathy
Facial palsy, Limb-girdle muscle weakness, Flexion contracture, Increased variability in muscle f... ORPHA:171436
Chronic Atrial And Intestinal Dysrhythmia
Bicuspid aortic valve, Left atrial enlargement, Pulmonic stenosis OMIM:616201
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Decreased thyroid-stimulating hormone level, Hypopituitarism, Depressed nasal bridge, Anteverted ... OMIM:613038
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Ventricular septal defect, Choanal atresia, Hypospadias, Underdeveloped nasal... ORPHA:163979
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Urinary incontinence, Micrognathia, Unilateral radial aplasia, Complete atrioventricular canal de... ORPHA:476126
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome
Hypoplasia of the zygomatic bone, Malar flattening, Short nose, Depressed nasal bridge ORPHA:2835
Branchial Arch Syndrome, X-Linked
Cryptorchidism, Pulmonic stenosis OMIM:301950
Diamond-Blackfan Anemia 8
Macrocytic anemia, Wide nasal bridge, Increased mean corpuscular volume, Neutropenia, Short nose OMIM:612563
Teebi Hypertelorism Syndrome 2
Delayed eruption of teeth, Depressed nasal bridge, Hypospadias, Broad nasal tip, Short nose OMIM:619736
Fetal Valproate Spectrum Disorder
Short nose, Depressed nasal ridge ORPHA:1906
Smith-Magenis Syndrome
Mandibular prognathia, Decreased fetal movement, Depressed nasal bridge, Anteverted nares, Delaye... ORPHA:819
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Ureteral duplication, Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the gal... ORPHA:2255
Isotretinoin Embryopathy-Like Syndrome
Conotruncal defect, Micrognathia OMIM:243440
Koolen-De Vries Syndrome
Recurrent urinary tract infections, Bicuspid aortic valve, Prominent nasal bridge, Ventricular se... OMIM:610443
Opitz Gbbb Syndrome
Natal tooth, Enlarged ovaries, Anteverted nares, Ventricular septal defect, Hypospadias, Microgna... ORPHA:2745
Microphthalmia, Syndromic 2
Delayed eruption of teeth, Ventricular septal defect, Prominent nasal bridge, Dextrocardia, Broad... OMIM:300166
Surfactant Metabolism Dysfunction, Pulmonary, 1
Cyanosis, Ground-glass opacification, Desquamative interstitial pneumonitis, Intraalveolar phosph... OMIM:265120
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Microretrognathia, Hydroureter, Anteverted nares, Proportionate shortening of all digits, Abnorma... ORPHA:280633
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Anteverted nares, Micrognathia, Bulbous nose, Wide nasal bridge, Short nose OMIM:613604
Chronic Pneumonitis Of Infancy
Hypoxemia, Diffuse reticular or finely nodular infiltrations, Cyanosis, Ground-glass opacification ORPHA:91359
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microretrognathia, Bulbous nose, Wide nasal bridge, Abnormal heart morphology, Short nose, Renal ... OMIM:618571
Osteogenesis Imperfecta, Type Ii
Limb undergrowth, Nonimmune hydrops fetalis, Premature birth, Convex nasal ridge OMIM:166210
Pulmonary Alveolar Proteinosis, Acquired
Recurrent respiratory infections, Cyanosis, Lung abscess, Pneumonia, Intraalveolar phospholipid a... OMIM:610910
Autosomal Recessive Robinow Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Depressed nasal bridge, Anteverted nares, Vent... ORPHA:1507
Marden-Walker Syndrome
Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Ventricula... ORPHA:2461
Isolated Anencephaly
Congenital diaphragmatic hernia ORPHA:563609
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Broad nasal tip, Wide nasal bridge, Shortening of all distal phalanges of the fingers, Vesicouret... OMIM:614749
Ververi-Brady Syndrome
Wide nose, Broad nasal tip, Prominent nose, Bulbous nose, Single umbilical artery, Transposition ... OMIM:617982
Desbuquois Syndrome
Ventricular septal defect, Depressed nasal bridge, Anteverted nares, Small hand ORPHA:1425
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Short metacarpal, Ventricular septal defect, Micrognathia, Underdeveloped nasal alae, Cryptorchid... ORPHA:166035
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Fatty replacement of skeletal muscle, Generalized amyotrophy, Increased variability in muscle fib... ORPHA:52430
Mungan Syndrome
Vesicoureteral reflux, Perimembranous ventricular septal defect, Renal hypoplasia, Pulmonic stenosis OMIM:611376
Tarp Syndrome
Extramedullary hematopoiesis, Anteverted nares, Micrognathia, Cryptorchidism, Wide nasal bridge, ... ORPHA:2886
Robinow Syndrome, Autosomal Dominant 3
Hypoplastic right heart, Depressed nasal bridge, Anteverted nares, Ventricular septal defect, Mic... OMIM:616894
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Hypoplasia of the ulna, Ureteral stenosis, Depressed nasal bridge, Anteverted nares, Hydroureter,... OMIM:615398
Fibrochondrogenesis 2
Anteverted nares, Micrognathia, Short ribs, Malar flattening, Short nose OMIM:614524
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Mandibular prognathia, Micrognathia, Renal hypoplasia, Pulmonic stenosis, Retrognathia, Patent fo... OMIM:618914
X-Linked Mandibulofacial Dysostosis
Prominent nasal bridge, Micrognathia, Cryptorchidism, Hypoplasia of the zygomatic bone, Pulmonic ... ORPHA:1131
Holt-Oram Syndrome
Ventricular septal defect, Absent thumb, Patent ductus arteriosus, Anomalous pulmonary venous ret... ORPHA:392
Immunodeficiency 9
Hypoplasia of the thymus, Amelogenesis imperfecta OMIM:612782
Histiocytosis-Lymphadenopathy Plus Syndrome
Ventricular septal defect, Anteverted nares, Decreased response to growth hormone stimulation tes... OMIM:602782
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Decreased hemoglobin concentration, Nonimmune hydrops fetalis, Reduced red cell ... OMIM:266200
S-Adenosylhomocysteine Hydrolase Deficiency
Cardiomyopathy, Hydrops fetalis ORPHA:88618
Craniofaciofrontodigital Syndrome
Persistent fetal circulation, Prominent superficial veins, Anomalous branches of internal carotid... ORPHA:363705
Robinow Syndrome, Autosomal Recessive 2
Bicuspid aortic valve, Anteverted nares, Broad nasal tip, Micrognathia, Wide nasal bridge, Mesome... OMIM:618529
Diamond-Blackfan Anemia 12
Macrocytic anemia, Ventricular septal defect, Reticulocytopenia, Normochromic anemia OMIM:615550
Filippi Syndrome
Wide nose, Ventricular septal defect, Prominent nasal bridge, Supernumerary nipple, Underdevelope... ORPHA:3255
King-Denborough Syndrome
Decreased fetal movement, Ventricular septal defect, Broad nasal tip, Bilateral cryptorchidism, B... OMIM:619542
Cardiofaciocutaneous Syndrome
Depressed nasal bridge, Anteverted nares, Abnormal heart valve morphology, Lymphedema, Premature ... ORPHA:1340
Jansen-De Vries Syndrome
Bicuspid aortic valve, Ventricular septal defect, Anteverted nares, Small hand, Short foot OMIM:617450
Coffin-Siris Syndrome
Delayed eruption of teeth, Depressed nasal bridge, Anteverted nares, Ventricular septal defect, B... ORPHA:1465
Brachydactyly, Type B1
Hypoplastic sacrum, Ventricular septal defect, Aplasia/Hypoplasia of the distal phalanges of the ... OMIM:113000
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Bicuspid aortic valve, Ventricular septal defect, Cryptorchidism, Bulbous nose, Patent ductus art... ORPHA:329224
Fetal Alcohol Syndrome
Atrial septal defect, Short nose, Anteverted nares, Micrognathia ORPHA:1915
15Q11.2 Microdeletion Syndrome
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo... ORPHA:261183
Benign Familial Infantile Epilepsy
Cyanosis ORPHA:306
Generalized Arterial Calcification Of Infancy
Medial calcification of large arteries, Adrenal calcification, Edema, Cardiomegaly, Polyhydramnio... ORPHA:51608
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Increased variability in muscle fiber diameter, Flexion contracture OMIM:619026
Autoimmune Lymphoproliferative Syndrome
Hydrops fetalis, Thyroid carcinoma, Lymphocytosis, Increased B cell count, Elevated proportion of... ORPHA:3261
Congenital Disorder Of Glycosylation, Type It
Decreased serum insulin-like growth factor 1, Ventricular septal defect, Micrognathia, Cardiomega... OMIM:614921
Teebi-Shaltout Syndrome
Ureteral stenosis, Ventricular septal defect, Underdeveloped nasal alae, Broad nasal tip, Wide na... OMIM:272950
Donnai-Barrow Syndrome
Ventricular septal defect, Depressed nasal bridge, Proteinuria, Broad nasal tip, Non-acidotic pro... OMIM:222448
Renal Agenesis
Renal insufficiency, Proteinuria, Renal agenesis, Ventricular septal defect, Unilateral renal age... ORPHA:411709
Alkuraya-Kucinskas Syndrome
Depressed nasal bridge, Anteverted nares, Edema, Micrognathia, Pericardial effusion, Micropenis, ... OMIM:617822
Right Pulmonary Artery, Anomalous Origin Of, Familial
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... OMIM:610338
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Hypoplasia of the bladder, Ventricular septal defect, Renal agenesis, Hypospadias, Pulmonary arte... OMIM:611812
Hamamy Syndrome
Hypoparathyroidism, Anteverted nares, Micrognathia, Microcytic anemia, Complete atrioventricular ... OMIM:611174
Gabriele-De Vries Syndrome
Aortopulmonary collateral arteries, Micrognathia, Broad nasal tip, Cryptorchidism, Malar flatteni... OMIM:617557
Orotic Aciduria
Orotic acid crystalluria, Ventricular septal defect, Anisocytosis, Folate-unresponsive megaloblas... OMIM:258900
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Hydrops fetalis... ORPHA:288
Musculocontractural Ehlers-Danlos Syndrome
Microretrognathia, Abnormal heart valve morphology, Cryptorchidism, Functional abnormality of the... ORPHA:2953
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Renal dysplasia, Ureteral duplication, Renal insufficiency, Long-chain dicarboxylic aciduria, Car... OMIM:608836
Basel-Vanagaite-Smirin-Yosef Syndrome
Mandibular prognathia, Ventricular septal defect, Anteverted nares, Hypospadias, Male urethral me... ORPHA:464738
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Atrial septal defect, Pulmonic stenosis, Absent thumb OMIM:619239
Absent Eyebrows And Eyelashes With Mental Retardation
Short nose, Convex nasal ridge OMIM:200130
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Short nose, Patent foramen ovale, Mitral valve prolapse OMIM:615539
Kabuki Syndrome 2
Natal tooth, Broad nasal tip, Micrognathia, Dental malocclusion, Horseshoe kidney, Depressed nasa... OMIM:300867
Baker-Gordon Syndrome
Prominent nasal tip, Short nose OMIM:618218
Frontometaphyseal Dysplasia 1
Delayed eruption of teeth, Hydroureter, Persistence of primary teeth, Absent frontal sinuses, Cor... OMIM:305620
Cardiofacioneurodevelopmental Syndrome
Ventricular septal defect, Micrognathia, Asplenia, Cryptorchidism, Pulmonic stenosis, Atrioventri... OMIM:619123
Floating-Harbor Syndrome
Long nose, Hypoplasia of the maxilla, Renal cyst, Nephrocalcinosis, Atrial septal defect, Mesocar... ORPHA:2044
1Q21.1 Microdeletion Syndrome
Cryptorchidism, Bulbous nose, Patent ductus arteriosus, Wide nasal bridge, Short foot, Abnormal c... ORPHA:250989
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Short nose, Thick nasal alae, Retrognathia, Micrognathia ORPHA:163961
Poikiloderma With Neutropenia
Depressed nasal bridge, Edema, Underdeveloped nasal alae, Micrognathia, Carious teeth, Splenomega... OMIM:604173
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Narrow nasal bridge, Anteverted nares, Wide nasal bridge, Hypertrophic cardiomyopathy, Atrial sep... OMIM:619383
Legius Syndrome
Micrognathia, Supravalvar pulmonary stenosis OMIM:611431
Congenital Total Pulmonary Venous Return Anomaly
Low 5-minute APGAR score, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral... ORPHA:99125
Chops Syndrome
Anteverted nares, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Splenomega... OMIM:616368
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Microretrognathia, Short nose ORPHA:1389
Pentalogy Of Cantrell
Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, Hypospadias, Rena... ORPHA:1335
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Mandibular prognathia, Decreased response to growth hormone stimulation test, Fetal ascites, Prom... OMIM:619503
Peroxisome Biogenesis Disorder 1A (Zellweger)
Ventricular septal defect, Anteverted nares, Adrenal hypoplasia, Micrognathia, Hypospadias, Breec... OMIM:214100
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Ventricular septal defect OMIM:616277
Clark-Baraitser Syndrome
Depressed nasal bridge, Anteverted nares, Short nose, Low hanging columella OMIM:617752
Facial Paresis, Hereditary Congenital, 3
Depressed nasal bridge, Anteverted nares, Short nose, Micrognathia OMIM:614744
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Mandibular prognathia, Broad nasal tip, Short toe, Abnormal renal morphology, Wide nasal bridge, ... OMIM:239300
Costello Syndrome
Thickened nuchal skin fold, Ventricular septal defect, Depressed nasal bridge, Polyhydramnios, Ab... ORPHA:3071
Weill-Marchesani Syndrome 3
Aortic valve stenosis, Pulmonic stenosis OMIM:614819
Glycogen Storage Disease Vii
Increased muscle glycogen content, Increased variability in muscle fiber diameter, Jaundice OMIM:232800
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Narrow nasal bridge, Macroorchidism, Ventricular septal defect, Prominent nasal bridge, Micrognat... OMIM:309520
Dyrk1A-Related Intellectual Disability Syndrome
Ventricular septal defect, Narrow nasal tip, Prominent nasal bridge, Anterior pituitary hypoplasi... ORPHA:464306
Thrombocytopenia-Absent Radius Syndrome
Abnormality of the kidney, Micrognathia, Absent radius, Aplasia/hypoplasia of the humerus, Aplasi... ORPHA:3320
Simpson-Golabi-Behmel Syndrome
Mandibular prognathia, Ureteral duplication, Hypoplasia of penis, Polyhydramnios, Atrial septal d... ORPHA:373
Hyperphosphatasia-Intellectual Disability Syndrome
Mandibular prognathia, Prominent nasal bridge, Supernumerary nipple, Micrognathia, Bulbous nose, ... ORPHA:247262
Autosomal Dominant Hyper-Ige Syndrome
Atelectasis, Generalized abnormality of skin, Recurrent respiratory infections ORPHA:2314
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Depressed nasal bridge, Cryptorchidism, Bulbous nose, Transposition of the great arteries, Patent... OMIM:616789
Chromosome 14Q11-Q22 Deletion Syndrome
Depressed nasal bridge, Ventricular septal defect, Anterior pituitary hypoplasia, Micrognathia, B... OMIM:613457
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Hypospadias, Increased mean platelet volume, Lymphedema, Abnormality of the endocrine system, Uni... ORPHA:487796
Congenital Rubella Syndrome
Ventricular septal defect, Thrombocytopenia, Patent ductus arteriosus, Splenomegaly, Type I diabe... ORPHA:290
Cerebrofacioarticular Syndrome
Hypospadias, Lymphedema, Bilateral choanal atresia/stenosis, Micrognathia, Hypoplasia of the maxi... ORPHA:314679
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Depressed nasal bridge, Anteverted nares, Micrognathia, T lymphocytopenia, Malar flatt... OMIM:242860
Cryptogenic Organizing Pneumonia
Hypoxemia, Pneumothorax, Cyanosis, Ground-glass opacification ORPHA:1302
Hydrolethalus Syndrome 1
Accessory spleen, Ventricular septal defect, Hypospadias, Polyhydramnios, Micrognathia, Complete ... OMIM:236680
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Hypoplasia of penis, Hypogonadotropic hypogonadism, Anosmia, Hypoplasia of the zygomatic bone, Ab... ORPHA:1295
Miller-Dieker Lissencephaly Syndrome
Delayed eruption of teeth, Decreased fetal movement, Anteverted nares, Polyhydramnios, Micrognath... OMIM:247200
Desmosterolosis
Depressed nasal bridge, Renal agenesis, Micromelia, Abnormality of the nose, Micrognathia, Spleno... ORPHA:35107
Encephalopathy Due To Sulfite Oxidase Deficiency
Short nose, Aminoaciduria ORPHA:833
Sifrim-Hitz-Weiss Syndrome
Renal insufficiency, Ventricular septal defect, Hypogonadotropic hypogonadism, Cryptorchidism, Pa... OMIM:617159
Intellectual Developmental Disorder, X-Linked 21
Mandibular prognathia, Short nose, Macroorchidism OMIM:300143
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Adrenal hyperplasia, Ventricular septal defect, Epistaxis, Abnormal circ... ORPHA:369929
Kapur-Toriello Syndrome
Hypoplasia of penis, Ventricular septal defect, Patent ductus arteriosus, Bulbous nose, Tetralogy... ORPHA:2328
Brain Malformations With Or Without Urinary Tract Defects
Anteverted nares, Renal hypoplasia, Vesicoureteral reflux, Short nose, Hydronephrosis OMIM:613735
Atresia Of Urethra
Renal dysplasia, Renal insufficiency, Hydroureter, Recurrent urinary tract infections, Bladder fi... ORPHA:105
Combined Oxidative Phosphorylation Defect Type 23
Left ventricular hypertrophy, Cyanosis, Right ventricular hypertrophy ORPHA:444013
Camptodactyly Syndrome, Guadalajara Type 1
Mandibular prognathia, Depressed nasal bridge, Anteverted nares, Short toe, Abnormality of dental... ORPHA:1327
Edinburgh Malformation Syndrome
Short nose, Anteverted nares, Choanal atresia, Micrognathia ORPHA:1895
Chromosome 9P Deletion Syndrome
Depressed nasal bridge, Anteverted nares, Choanal atresia, Ventricular septal defect, Micrognathi... OMIM:158170
Transketolase Deficiency
Increased level of ribose in urine, Ventricular septal defect, Abnormal coronary artery course, P... ORPHA:488618
Ataxia-Telangiectasia-Like Disorder 2
Conjunctival telangiectasia, Progeroid facial appearance, Congenital diaphragmatic hernia, Cutane... OMIM:615919
Doors Syndrome
Adrenal hyperplasia, Abnormal placental membrane morphology, Polyhydramnios, Nephrocalcinosis, An... ORPHA:79500
Pulmonary Edema Of Mountaineers, Susceptibility To
Edema, Pulmonary edema OMIM:178400
Macrocephaly-Intellectual Disability-Autism Syndrome
Depressed nasal bridge, Penile freckling, Hurthle cell thyroid adenoma, Thyroid carcinoma, Short ... ORPHA:210548
Distal Deletion 10Q
Premature birth, Prominent nasal bridge, Prominent nose, Micrognathia, Patent ductus arteriosus, ... ORPHA:96148
Recombinant 8 Syndrome
Ventricular septal defect, Depressed nasal bridge, Anteverted nares, Micrognathia, Abnormality of... ORPHA:96167
Rere-Related Neurodevelopmental Syndrome
Ventricular septal defect, Anteverted nares, Choanal atresia, Micrognathia, Hypospadias, Cryptorc... ORPHA:494344
Prolidase Deficiency
Depressed nasal bridge, Micrognathia, Hyperimidodipeptiduria, Thrombocytopenia, Splenomegaly, Con... OMIM:170100
Okamoto Syndrome
Ureteropelvic junction obstruction, Depressed nasal bridge, Anteverted nares, Ventricular septal ... ORPHA:2729
Fanconi Anemia, Complementation Group B
Ventricular septal defect, Aplastic anemia, Hypergonadotropic hypogonadism, Absent thumb, Renal a... OMIM:300514
Holoprosencephaly 14
Anteverted nares, Ventricular septal defect, Proboscis, Aortic valve atresia, Double outlet right... OMIM:619895
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Palpebral edema, Abnormal sweat g... OMIM:607823
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Ventricular septal defect, Splenomegaly, Chronic kidney disease, Short ribs, Nephronophthisis OMIM:615630
Pparg-Related Familial Partial Lipodystrophy
Calf muscle pseudohypertrophy, Abnormality of skeletal muscle fiber size, Prominent veins on trun... ORPHA:79083
Congenital Disorder Of Glycosylation, Type Iu
Short nose, Micrognathia OMIM:615042
Multicentric Carpotarsal Osteolysis Syndrome
Congenital diaphragmatic hernia OMIM:166300
Chromosome 2P16.1-P15 Deletion Syndrome
Depressed nasal bridge, Cryptorchidism, Recurrent upper respiratory tract infections, Wide nasal ... OMIM:612513
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Depressed nasal bridge, Anteverted nares, Micrognathia, Abnormal heart morphology, Short nose ORPHA:314655
Chromosome 17Q12 Deletion Syndrome
Mandibular prognathia, Micrognathia, Renal cyst, Short palm, Multicystic kidney dysplasia, Depres... OMIM:614527
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Natal tooth, Depressed nasal bridge, Premature birth, Micrognathia, Breech presentation, Short nose OMIM:617802
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Ventricular septal defect, Long nose, Bulbous nose, Patent ductus arteriosus, Short sternum, Pulm... OMIM:620113
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Ventricular septal defect, Prominent nasal bridge, Choanal atresia, Patent ductus arteriosus, Ret... ORPHA:52055
Tatton-Brown-Rahman Syndrome
Ventricular septal defect, Anteverted nares, Vesicoureteral reflux, Short columella, Atrial septa... OMIM:615879
Feingold Syndrome 1
Accessory spleen, Decreased fetal movement, Ventricular septal defect, Anteverted nares, Tricuspi... OMIM:164280
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ... ORPHA:2973
Fryns Syndrome
Microretrognathia, Ureteral duplication, Ectopic pancreatic tissue, Ventricular septal defect, An... OMIM:229850
Bor Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu... ORPHA:107
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Hydroureter, Depressed nasal bridge, Bicuspid aortic valve, Anteverted nares, Prominent nasal bri... OMIM:610759
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Delayed eruption of teeth, Renal malrotation, Depressed nasal bridge, Anteverted nares, Decreased... OMIM:615866
Tetrasomy 5P
Aplasia/Hypoplasia of the abdominal wall musculature, Recurrent respiratory infections, Cyanosis,... ORPHA:3309
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Urethral stricture, Urinary incontinence, Long nose, Atrial septal defect, Pelvic kidney, Antever... OMIM:619522
Jacobsen Syndrome
Multicystic kidney dysplasia, Anteverted nares, Ventricular septal defect, Premature birth, Missi... ORPHA:2308
Trisomy 18
Microretrognathia, Ventricular septal defect, Choanal atresia, Abnormality of the upper urinary t... ORPHA:3380
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Ventricular septal defect, Proteinuria, Nephrogenic diabetes insipidus, Nephrocalcinosis, Renal t... OMIM:613404
Schinzel-Giedion Midface Retraction Syndrome
Abnormal nasopharynx morphology, Ureteral stenosis, Depressed nasal bridge, Anteverted nares, Hyp... OMIM:269150
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Hydronephrosis OMIM:235760
Thrombocytopenia-Absent Radius Syndrome
Ureteral duplication, Edema of the dorsum of feet, Edema of the dorsum of hands, Micrognathia, At... OMIM:274000
Sotos Syndrome
Mandibular prognathia, Decreased fetal movement, Depressed nasal bridge, Anteverted nares, Ventri... OMIM:117550
Omodysplasia 1
Short humerus, Ventricular septal defect, Depressed nasal bridge, Rhizomelia, Micrognathia, Crypt... OMIM:258315
Webb-Dattani Syndrome
Neurogenic bladder, Decreased response to growth hormone stimulation test, Anterior pituitary hyp... OMIM:615926
Alagille Syndrome
Hypoplasia of the ulna, Ventricular septal defect, Micrognathia, Long nose, Cryptorchidism, Renal... ORPHA:52
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Natal tooth, Absent gallbladder, Depressed nasal bridge, Micrognathia, Complete atrioventricular ... OMIM:617925
Insulin-Like Growth Factor I, Resistance To
Diabetes mellitus, Ventricular septal defect, Micrognathia, Small hand, Wide nasal bridge, Short ... OMIM:270450
Dermotrichic Syndrome
Short nose, Aminoaciduria, Depressed nasal bridge, Anemia ORPHA:99688
Paternal Uniparental Disomy Of Chromosome 6
Ventricular septal defect, Neonatal insulin-dependent diabetes mellitus, Cardiomegaly, Prominent ... ORPHA:96191
Gaucher Disease
Mitral valve calcification, Pancytopenia, Abnormal heart valve morphology, Abnormal pericardium m... ORPHA:355
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Ground-glass opacification, Atelectasis, Bronchiectasis, Abnormal pulmonary interstitial morpholo... OMIM:620233
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Renal dysplasia, Renal insufficiency, Diabetes mellitus, Unilateral renal age... ORPHA:2237
Holoprosencephaly 3
Depressed nasal bridge, Proboscis, Abnormality of the nose, Single naris, Short columella, Malar ... OMIM:142945
Ciliary Dyskinesia, Primary, 1
Pneumonia, Atelectasis, Bronchiectasis, Recurrent bronchitis OMIM:244400
Pontocerebellar Hypoplasia, Type 17
Secundum atrial septal defect, Microretrognathia, Patent ductus arteriosus, Ventricular septal de... OMIM:619909
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter OMIM:619173
Omenn Syndrome
Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Hypoplas... OMIM:603554
Glycogen Storage Disease Due To Acid Maltase Deficiency
Facial hypotonia, Glycogen accumulation in muscle fiber lysosomes, Respiratory tract infection, A... ORPHA:365
Trigonocephaly 1
Short nose, Long penis, Wide nasal bridge OMIM:190440
Peters Plus Syndrome
Ureteral duplication, Polyhydramnios, Micrognathia, Micromelia, Bicuspid pulmonary valve, Abnorma... ORPHA:709
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Thyroid dysgenesis, Ventricular septal defect, Polyhydramnios, Prominent nose, Long nose, Microgn... ORPHA:3047
Prader-Willi Syndrome Due To Translocation
Narrow nasal bridge, Anteverted nares, Hypogonadotropic hypogonadism, Decreased response to growt... ORPHA:177907
Mosaic Trisomy 1
Microretrognathia, Ventricular septal defect, Depressed nasal bridge, Polyhydramnios, Increased n... ORPHA:1692
Myopathy With Lactic Acidosis, Hereditary
Skeletal muscle atrophy, Rhabdomyolysis, Myopathy, Increased intramyocellular lipid droplets, Inc... OMIM:255125
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Depressed nasal bridge, Anteverted nares, Ventricular septal defect, Micrognathia, Abnormal nasal... ORPHA:404440
Congenital Myopathy 22A, Classic
Hip contracture, Scapular winging, Centrally nucleated skeletal muscle fibers, Achilles tendon co... OMIM:620351
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Mandibular prognathia, Microretrognathia, Dilation of Virchow-Robin spaces, Premature birth, Vent... OMIM:300998
Velocardiofacial Syndrome
Hypoparathyroidism, Ventricular septal defect, Underdeveloped nasal alae, Cryptorchidism, Bulbous... OMIM:192430
Ogden Syndrome
Microretrognathia, Ventricular septal defect, Underdeveloped nasal alae, Cryptorchidism, Pulmonar... ORPHA:276432
Radio-Tartaglia Syndrome
Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Ventricular septal defect, Micr... OMIM:619312
15Q Overgrowth Syndrome
Mandibular prognathia, Microretrognathia, Ureterovesical stenosis, Micrognathia, Breech presentat... ORPHA:314585
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Supernumerary nipple, Cryptorchidism, Arteria lusoria, Vesicoureteral reflux, Single umbilical ar... OMIM:618653
Pterygium Colli, Isolated
Short nose OMIM:177990
Bartsocas-Papas Syndrome
Aplasia/Hypoplasia of the distal phalanges of the toes, Micrognathia, Absent thumb, Underdevelope... ORPHA:1234
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Short metacarpal, Ventricular septal defect, Micrognathia, Underdeveloped nasal alae, Renal cyst,... OMIM:250410
Apert Syndrome
Mandibular prognathia, Delayed eruption of teeth, Overriding aorta, Ventricular septal defect, De... OMIM:101200
Viss Syndrome
Tortuous cerebral arteries, Epidural hemorrhage, Polyhydramnios, Micrognathia, Right ventricular ... OMIM:619472
Igg4-Related Kidney Disease
Lymphadenitis, Renal interstitial immunoglobulin deposits, Pedal edema, Sterile pyuria, Tubuloint... ORPHA:449395
Noonan Syndrome 10
Mitral stenosis, Ventricular septal defect, Cryptorchidism, Increased nuchal translucency, Patent... OMIM:616564
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Pancytopenia, Pancreatic fibrosis, Thrombocytopenia, Reticulocytopenia, Hyd... OMIM:557000
Hand-Foot-Genital Syndrome
Shortening of all middle phalanges of the fingers, Recurrent urinary tract infections, Ventricula... ORPHA:2438
Vitamin K Antagonist Embryofetopathy
Depressed nasal bridge, Anteverted nares, Choanal atresia, Short nose, Short distal phalanx of fi... ORPHA:1914
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Narrow nasal ridge, Micrognathia, Underdeveloped nasal alae, Premature rupture of membranes, Vari... OMIM:618343
7Q11.23 Microduplication Syndrome
Ventricular septal defect, Hypospadias, Unilateral renal agenesis, Broad nasal tip, Micrognathia,... ORPHA:96121
Wiskott-Aldrich Syndrome
Hemolytic anemia, Glomerulopathy, Sinusitis, Abnormal eosinophil morphology, Epistaxis, Microcyti... ORPHA:906
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Decreased fetal movement, Broad nasal tip, Wide nasal bridge, Shortening of all distal phalanges ... OMIM:614207
Hereditary Methemoglobinemia
Cyanosis ORPHA:621
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Patent ductus arteriosus, Congen... ORPHA:2519
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Ventricular septal defect, Renal hypoplasia/aplasia, Abnormality of the ureter, Polycystic ovarie... ORPHA:1770
Pfeiffer Syndrome Type 3
Depressed nasal bridge, Choanal atresia, Short hallux, Small hand, Horseshoe kidney, Short foot, ... ORPHA:93260
Acrofacial Dysostosis, Catania Type
Microretrognathia, Premature birth, Hypospadias, Carious teeth, Cryptorchidism, Small hand, Hypop... ORPHA:1786
Kleefstra Syndrome 1
Mandibular prognathia, Natal tooth, Anteverted nares, Hypospadias, Persistence of primary teeth, ... OMIM:610253
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Bicuspid aortic valve, Vesicoureteral reflux, Atrial septal defect, Hypospadias, Cryptorchidism, ... ORPHA:353281
Cardiofaciocutaneous Syndrome 4
Decreased response to growth hormone stimulation test, Polyhydramnios, Ventricular septal hypertr... OMIM:615280
Smith-Lemli-Opitz Syndrome
Hypoplasia of penis, Polyhydramnios, Micrognathia, Atrial septal defect, Advanced eruption of tee... ORPHA:818
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Ventricular septal defect, Anteverted nares, Cryptorchidism, Patent ductus arteriosus, Hypertroph... OMIM:612938
Heart And Brain Malformation Syndrome
Ventricular septal defect, Depressed nasal bridge, Anteverted nares, Polyhydramnios, Wide nasal b... OMIM:616920
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Polyhydramnios, Micrognathia, Choanal stenosis, Atrial septal defect, Hypothyroidism, Patent fora... OMIM:620186
Cenani-Lenz Syndrome
Hypoplasia of the ulna, Crossed fused renal ectopia, Abnormal dental enamel morphology, Micromeli... ORPHA:3258
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Torticollis, Multiple joint contractures, Repeated pneumothoraces, Atelectasis, Pulmonary hypopla... ORPHA:536467
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Ventricular septal defect, Hypospadias, Supernumerary nipple, Hypoplasia of the maxilla, Patent d... OMIM:106260
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Renal insufficiency, Dysuria, Large vessel vasculitis, Pedal edema, Hydrocele ... ORPHA:49041
Specc1L-Related Hypertelorism Syndrome
Ventricular septal defect, Prominent nasal bridge, Ectopic kidney, Cryptorchidism, Short toe, Pat... ORPHA:1519
Rubinstein-Taybi Syndrome 1
Polyhydramnios, Prominent nose, Micrognathia, Hypoplasia of the maxilla, Bilateral cryptorchidism... OMIM:180849
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Short nose, Wide nasal bridge, Shortening of all distal phalanges of the fingers, Broad nasal tip OMIM:615716
Loeys-Dietz Syndrome 1
Bicuspid aortic valve, Micrognathia, Arterial tortuosity, Descending thoracic aorta aneurysm, Pat... OMIM:609192
Gillessen-Kaesbach-Nishimura Syndrome
Flexion contracture, Abnormal lung lobation, Pulmonary hypoplasia, Congenital diaphragmatic hernia OMIM:263210
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Depressed nasal bridge, Anteverted nares, Bulbous nose, M... OMIM:614105
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Mandibular prognathia, Microretrognathia, Polyhydramnios, Intraventricular hemorrhage, Wide nasal... OMIM:613603
Coffin-Siris Syndrome 4
Narrow nasal bridge, Wide nose, Depressed nasal bridge, Anteverted nares, Ventricular septal defe... OMIM:614609
Junctional Epidermolysis Bullosa With Pyloric Atresia
Urethral stricture, Polyhydramnios, Urinary bladder inflammation, Hydronephrosis, Hematuria, Apla... ORPHA:79403
Familial Partial Lipodystrophy, Dunnigan Type
Skeletal muscle hypertrophy, Myopathy, Abnormality of skeletal muscle fiber size ORPHA:2348
Simpson-Golabi-Behmel Syndrome, Type 1
Mandibular prognathia, Polyhydramnios, Renal cyst, Short palm, Atrial septal defect, Depressed na... OMIM:312870
Ileal Neuroendocrine Tumor
Tricuspid stenosis, Edema, Lymphadenopathy, Iron deficiency anemia, Small intestine carcinoid, Pu... ORPHA:100078
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Ankle flexion contracture, Elbow flexion contracture, Increased variability in muscle fiber diame... OMIM:619461
Ruvalcaba Syndrome
Short metacarpal, Micromelia, Cryptorchidism, Small hand, Abnormal localization of kidney, Hematu... ORPHA:3121
Tonne-Kalscheuer Syndrome
Pulmonary hypoplasia, Congenital diaphragmatic hernia OMIM:300978
Robinow Syndrome, Autosomal Recessive 1
Micrognathia, Nephrocalcinosis, Short palm, Micropenis, Renal duplication, Depressed nasal bridge... OMIM:268310
Focal Dermal Hypoplasia
Narrow nasal bridge, Multicystic kidney dysplasia, Ventricular septal defect, Abnormal dental ena... ORPHA:2092
Carnitine-Acylcarnitine Translocase Deficiency
Rhabdomyolysis, Cyanosis ORPHA:159
Hereditary Xanthinuria
Crystalluria, Recurrent urinary tract infections, Xanthine nephrolithiasis, Xanthinuria, Hydronep... ORPHA:3467
Intellectual Developmental Disorder, Autosomal Dominant 53
Short femur, Ventricular septal defect, Cryptorchidism, Micropenis, Hydronephrosis OMIM:617798
Nabais Sa-De Vries Syndrome, Type 1
Depressed nasal bridge, Prominent nasal bridge, Bulbous nose, Vesicoureteral reflux, Short nose OMIM:618828
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Ventricular septal defect, Prominent nasal bridge, Cryptorchidism, Wide nasal bridge, Atrial sept... OMIM:617452
Contractural Arachnodactyly, Congenital
Hip contracture, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Elbo... OMIM:121050
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydroureter, Hydronephrosis OMIM:618240
20Q11.2 Microduplication Syndrome
Depressed nasal bridge, Anteverted nares, Palpebral edema, Periorbital edema, Cryptorchidism, Wid... ORPHA:363659
Schisis Association
Congenital diaphragmatic hernia ORPHA:63862
Floating-Harbor Syndrome
Prominent nose, Short middle phalanx of the 2nd finger, Glandular hypospadias, Nephrocalcinosis, ... OMIM:136140
Phelan-Mcdermid Syndrome
Ventricular septal defect, Palpebral edema, Abnormality of the kidney, Lymphedema, Micrognathia, ... OMIM:606232
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Aplasia/Hypoplasia of the lungs, Abnormal lung lobation, Congenital diaphragmatic hernia ORPHA:2063
Kapur-Toriello Syndrome
Ventricular septal defect, Short thumb, Bulbous nose, Patent ductus arteriosus, Cryptorchidism, A... OMIM:244300
Distal Deletion 12Q
Diabetes mellitus, Anteverted nares, Unilateral cryptorchidism, Maturity-onset diabetes of the yo... ORPHA:96149
Bainbridge-Ropers Syndrome
Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Underdeveloped nasal alae, Broa... OMIM:615485
Delpire-Mcneill Syndrome
Ventricular septal defect OMIM:619083
Stromme Syndrome
Accessory spleen, Prominent nasal bridge, Micrognathia, Bilateral renal hypoplasia, Wide nasal br... OMIM:243605
Cooper-Jabs Syndrome
Malar flattening, Ventricular septal defect, Anteverted nares, Missing ribs ORPHA:1488
Mandibuloacral Dysplasia With Type B Lipodystrophy
Prominent superficial veins, Narrow nasal ridge, Micrognathia, Insulin-resistant diabetes mellitu... OMIM:608612
Phaver Syndrome
Ventricular septal defect, Depressed nasal bridge, Short thumb, Hypoplastic aortic arch, Coarctat... ORPHA:2876
Endove Syndrome, Limb-Only Type
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... OMIM:619217
15Q14 Microdeletion Syndrome
Atrial septal defect, Convex nasal ridge, Ventricular septal defect, Prominent nasal bridge ORPHA:261190
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Depressed nasal bridge, Anteverted nares, Micrognathia, Oligosacchariduria, Hemiatrophy of upper ... ORPHA:163649
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Decreased testicular size, Wide nose, Ventricular septal defect, Prominent nasal bridge, Microgna... ORPHA:251028
Trisomy 20P
Anteverted nares, Hypospadias, Abnormality of the kidney, Micrognathia, Cryptorchidism, Abnormali... ORPHA:261318
Koolen-De Vries Syndrome Due To A Point Mutation
Bicuspid aortic valve, Decreased response to growth hormone stimulation test, Fetal pyelectasis, ... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Bicuspid aortic valve, Decreased response to growth hormone stimulation test, Fetal pyelectasis, ... ORPHA:363958
Glutamine Deficiency, Congenital
Depressed nasal bridge, Anteverted nares, Micromelia, Wide nasal bridge, Short nose OMIM:610015
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Hypoplasia of penis, Depressed nasal bridge, Abnormal dental enamel morphology, Polyhydramnios, S... ORPHA:1812
Hardikar Syndrome
Premature rupture of membranes, Vesicoureteral reflux, Atrial septal defect, Bladder exstrophy, P... OMIM:301068
2P15P16.1 Microdeletion Syndrome
Multicystic kidney dysplasia, Prominent nasal bridge, Polyhydramnios, Supernumerary nipple, Wide ... ORPHA:261349
Neurodevelopmental Disorder With Language Delay And Seizures
Cryptorchidism, Ventricular septal defect, Hypothyroidism OMIM:619908
Microphthalmia With Limb Anomalies
Depressed nasal bridge, Unilateral cryptorchidism, Flared nostrils, Hand oligodactyly, Fibular hy... OMIM:206920
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Short femur, Ventricular septal defect, Foot oligodactyly, Amelia OMIM:601357
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Rhizomelia, Micrognathia, Depressed nasal ridge, Short foot, Short palm, Short nose ORPHA:163966
Buerger Disease
Acrocyanosis ORPHA:36258
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Acrocyanosis, Joint contracture of the 5th finger OMIM:614407
Toriello-Carey Syndrome
Micrognathia, Cryptorchidism, Patent ductus arteriosus, Coarctation of aorta, Cardiomyopathy, Abn... ORPHA:3338
Smith-Lemli-Opitz Syndrome
Micromelia, Micrognathia, Renal cyst, Atrial septal defect, Micropenis, Penoscrotal hypospadias, ... OMIM:270400
X Small Rings
Bicuspid aortic valve, Anteverted nares, Ventricular septal defect, Fetal pyelectasis, Upper limb... ORPHA:96201
Carey-Fineman-Ziter Syndrome
Anteverted nares, Micrognathia, Glandular hypospadias, Short nose, Hydronephrosis ORPHA:1358
Cebalid Syndrome
Congenital diaphragmatic hernia OMIM:618774
Diaphragmatic Hernia 4, With Cardiovascular Defects
11 pairs of ribs, Ventricular septal defect, Aortopulmonary collateral arteries, Polyhydramnios, ... OMIM:620025
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Normochromic anemi... OMIM:618775
Erdheim-Chester Disease
Renal insufficiency, Hypogonadotropic hypogonadism, Abnormal pericardium morphology, Dysuria, Joi... ORPHA:35687
Xp22.13P22.2 Duplication Syndrome
Recurrent upper respiratory tract infections, Congenital diaphragmatic hernia ORPHA:284180
Ogden Syndrome
Bicuspid aortic valve, Maternal diabetes, Cardiomegaly, Secundum atrial septal defect, Lymphedema... OMIM:300855
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Aplasia/Hypoplasia of the lungs, Anomalous pulmonary venous return, Abnormal lung lobation, Conge... ORPHA:1120
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Wide nose, Diabetes mellitus, Anteverted nares, Micrognathia, Hypoplasia of teeth, Delayed pubert... ORPHA:391408
Kabuki Syndrome
Duplicated collecting system, Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Rena... ORPHA:2322
Intellectual Developmental Disorder, X-Linked 30
Short nose, Anteverted nares, Prominent nasal bridge OMIM:300558
Lethal Congenital Contracture Syndrome 9
Elbow extension contracture, Centrally nucleated skeletal muscle fibers, Flexion contracture, Myo... OMIM:616503
X-Linked Intellectual Disability Due To Gria3 Mutations
Mandibular prognathia, Cryptorchidism, Macrodontia of permanent maxillary central incisor, Microp... ORPHA:364028
19P13.3 Microduplication Syndrome
Ventricular septal defect, Unilateral cryptorchidism, Micrognathia, Precocious puberty, Underdeve... ORPHA:447980
Spondyloepiphyseal Dysplasia, Nishimura Type
Short nose, Small hand OMIM:618618
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Depressed nasal bridge, Anteverted nares, Short nose OMIM:613443
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Right ventricul... OMIM:612949
Adams-Oliver Syndrome 5
Hypersplenism, Splenomegaly, Right atrial enlargement, Pulmonic stenosis, Patent foramen ovale, R... OMIM:616028
Raine Syndrome
Mandibular prognathia, Natal tooth, Hydroureter, Depressed nasal bridge, Choanal atresia, Microme... OMIM:259775
Mosaic Trisomy 8
Wide nose, Anteverted nares, Micrognathia, Broad nasal tip, Cryptorchidism, Patellar aplasia, Hyd... ORPHA:96061
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Skeletal muscle atrophy, Facial palsy, Ragged-red muscle fibers, Rhabdomyolysis, Limb muscle weak... OMIM:157640
Macrocephaly/Autism Syndrome
Dilation of Virchow-Robin spaces, Depressed nasal bridge, Penile freckling, Splenomegaly, Hydroce... OMIM:605309
13Q12.3 Microdeletion Syndrome
Recurrent respiratory infections, Congenital diaphragmatic hernia, Camptodactyly ORPHA:412035
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
11 pairs of ribs, Rhizomelia, Depressed nasal ridge, Hypoplasia of the calcaneus, Short nose, Dis... OMIM:300863
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Wide nose, Hypoplasia of penis, Depressed nasal bridge, Micromelia, Micrognathia, Urethrovaginal ... ORPHA:93271
Intellectual Developmental Disorder, Autosomal Dominant 66
Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great arteries, Cerebra... OMIM:619910
Multiple Pterygium Syndrome, Escobar Variant
Decreased fetal movement, Hypospadias, Micrognathia, Cryptorchidism, Patellar aplasia, Dental mal... OMIM:265000
Intellectual Developmental Disorder, Autosomal Dominant 43
Anteverted nares, Prominent nasal bridge, Wide nasal bridge, Pulmonic stenosis, Low hanging colum... OMIM:616977
Chromosome 13Q33-Q34 Deletion Syndrome
Delayed eruption of teeth, Hypospadias, Choanal atresia, Micrognathia, Short thumb, Patent ductus... OMIM:619148
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Ventricular septal defect, Secundum atrial septal defect, Coarctation of aorta, Perimembranous ve... OMIM:600987
Premature Aging Syndrome, Penttinen Type
Delayed eruption of teeth, Aplasia of the nasal bone, Prominent superficial veins, Prominent nasa... OMIM:601812
19Q13.11 Microdeletion Syndrome
Ventricular septal defect, Hypospadias, Supernumerary nipple, Underdeveloped nasal alae, Cryptorc... ORPHA:217346
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Pancreatic fibrosis, Ventricular septal defect, Depressed nasal bridge, Polyhydramnios, Short ribs OMIM:615503
Non-Distal Duplication 13Q
Cryptorchidism, Short nose, Micrognathia ORPHA:1702
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Bicuspid aortic valve, Ventricular septal defect, Supernumerary nipple, Abnormal heart morphology... ORPHA:457279
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Short metacarpal, Depressed nasal bridge, Anteverted nares, Polyhydramnios, Micrognathia, Long no... ORPHA:508533
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Skeletal muscle atrophy, Ventricular septal defect, Knee flexion contracture, Atrial septal defec... OMIM:603387
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Bicuspid aortic valve, Ventricular septal defect, Supernumerary nipple, Broad nasal tip, Underdev... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Bicuspid aortic valve, Ventricular septal defect, Supernumerary nipple, Broad nasal tip, Underdev... ORPHA:352665
Cardiac Valvular Dysplasia 2
Bicuspid aortic valve, Ascending tubular aorta aneurysm, Pulmonic stenosis, Subvalvular aortic st... OMIM:620067
15q26 overgrowth syndrome
Mandibular prognathia, Renal agenesis, Abnormality of the kidney, Micrognathia, Prominent nose, B... DECIPHER:81
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Anteverted nares, Wide nasal bridge, Short femoral neck, Enamel agenesis, Short nose, Tetralogy o... OMIM:614701
Aarskog-Scott Syndrome
Decreased serum testosterone concentration, Anteverted nares, Elevated circulating luteinizing ho... OMIM:305400
Myasthenic Syndrome, Congenital, 19
Increased variability in muscle fiber diameter, Recurrent lower respiratory tract infections, Fac... OMIM:616720
Chromosome 3Q29 Duplication Syndrome
Bulbous nose, Wide nasal bridge, Short nose OMIM:611936
Trichohepatoenteric Syndrome 1
Wide nose, Anteverted nares, Ventricular septal defect, Polyhydramnios, Increased mean platelet v... OMIM:222470
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va... ORPHA:216694
Tetrasomy 9P
Micrognathia, Micropenis, Patent foramen ovale, Amelogenesis imperfecta, Absent gallbladder, Juxt... ORPHA:3310
Fanconi Anemia, Complementation Group N
Short thumb, Aplastic anemia, Ventricular septal defect, Nephroblastoma OMIM:610832
Genitopatellar Syndrome
Delayed eruption of teeth, Wide nose, Multicystic kidney dysplasia, Ventricular septal defect, Pr... OMIM:606170
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Bicuspid aortic valve, Polyhydramnios, Micrognathia, Atrial septal defect, Vesicoureteral reflux,... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Bicuspid aortic valve, Polyhydramnios, Micrognathia, Atrial septal defect, Vesicoureteral reflux,... ORPHA:353277
Foxg1 Syndrome Due To 14Q12 Microdeletion
Mandibular prognathia, Palpebral edema, Depressed nasal bridge, Bulbous nose, Short nose ORPHA:261144
Fucosidosis
Decreased muscle mass, Acrocyanosis, Vascular skin abnormality ORPHA:349
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Abnormal nasopharynx morphology, Absence of Stensen duct, Decreased response to growth hormone st... OMIM:604292
Dysosteosclerosis
Delayed eruption of teeth, Craniofacial hyperostosis, Ventricular septal defect, Abnormal dental ... ORPHA:1782
Cholestasis, Progressive Familial Intrahepatic, 5
Pleural effusion, Ascites, Nonimmune hydrops fetalis OMIM:617049
Opsismodysplasia
Short metacarpal, Depressed nasal bridge, Anteverted nares, Polyhydramnios, Edema, Rhizomelia, Hy... OMIM:258480
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Cryptorchidism, Wide nasal bridge, Pulmonic stenosis, Testicular torsion, Aortic valve stenosis ORPHA:75496
3Q29 Microdeletion Syndrome
Hypospadias, Prominent nasal bridge, Patent ductus arteriosus, Horseshoe kidney, Subvalvular aort... ORPHA:65286
Bohring-Opitz Syndrome
Ventricular septal defect, Depressed nasal bridge, Anteverted nares, Polyhydramnios, Micrognathia... OMIM:605039
Obesity-Hypoventilation Syndrome
Cyanosis OMIM:257500
Wiedemann-Rautenstrauch Syndrome
Delayed eruption of teeth, Natal tooth, Short humerus, Short femur, Depressed nasal bridge, Antev... OMIM:264090
Laryngeal Abductor Paralysis
Cyanosis OMIM:150260
Oculodentodigital Dysplasia
Narrow nasal bridge, Mandibular prognathia, Neurogenic bladder, Anteverted nares, Ventricular sep... ORPHA:2710
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Ventricular septal defect, Prominent nasal bridge, Choanal atresia, Bilateral cryptorchidism, Pat... OMIM:300472
Desmosterolosis
Hypoplastic nasal bridge, Anteverted nares, Rhizomelia, Micrognathia, Patent ductus arteriosus, T... OMIM:602398
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Ventricular septal defect, Depressed nasal bridge, Micromelia, Hypoplasia of the radius, Short ribs OMIM:617895
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Bulbous nose, Wide nasal bridge, Short nose OMIM:620292
Noonan Syndrome With Multiple Lentigines
Abnormal endocardium morphology, Hypospadias, Abnormal pulmonary valve morphology, Cryptorchidism... ORPHA:500
Geleophysic Dysplasia 2
Mitral stenosis, Tricuspid stenosis, Mitral valve prolapse, Short foot, Aortic valve stenosis, Sh... OMIM:614185
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Prominent nasal bridge, Precocious puberty, Moderate albuminuria, Short toe, Hydronephrosis, Dela... OMIM:619269
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
11 pairs of ribs, Hypoplasia of penis, Ventricular septal defect, Hypospadias, Cryptorchidism, Pa... ORPHA:77298
Malan Syndrome
Mandibular prognathia, Hyperplasia of the premaxilla, Advanced eruption of teeth, Short nose, Ret... OMIM:614753
Alagille Syndrome 1
Long nose, Multiple small medullary renal cysts, Papillary thyroid carcinoma, Vesicoureteral refl... OMIM:118450
Craniofrontonasal Dysplasia
Camptodactyly of finger, Congenital diaphragmatic hernia ORPHA:1520
Cockayne Syndrome Type 3
Renal insufficiency, Neurogenic bladder, Hydroureter, Narrow nose, Unilateral renal agenesis, Car... ORPHA:90324
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Depressed nasal bridge, Anteverted nares, Polyhydramnios, Large placenta, Retrognathia, Hydroneph... ORPHA:254528
Congenital Myopathy 17
Mandibular prognathia, Polyhydramnios, Fetal akinesia sequence, Dental malocclusion, Narrow jaw, ... OMIM:618975
Pfeiffer Syndrome
Mandibular prognathia, Shortening of all middle phalanges of the fingers, Depressed nasal bridge,... OMIM:101600
Short Stature-Micrognathia Syndrome
Rhizomelia, Ventricular septal defect, Micrognathia, Cryptorchidism, Micropenis, Retrognathia, Pe... OMIM:617164
Arthrogryposis, Distal, Type 2A
Mandibular prognathia, Decreased fetal movement, Polyhydramnios, Underdeveloped nasal alae, Breec... OMIM:193700
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Ventricular septal defect, Nephrolithiasis, Biventricular hypertrophy, Primary hyperaldosteronism... OMIM:615474
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Wide nose, Ventricular septal defect, Prominent nasal bridge, Cryptorchidism, Atrial septal defec... ORPHA:505237
16P13.11 Microdeletion Syndrome
Ventricular septal defect, Depressed nasal bridge, Anteverted nares, Cryptorchidism, Atrial septa... ORPHA:261236
Jacobsen Syndrome
Ventricular septal defect, Depressed nasal bridge, Anteverted nares, Micrognathia, Missing ribs, ... OMIM:147791
Ferguson-Bonni Neurodevelopmental Syndrome
Congenital diaphragmatic hernia OMIM:619699
Meier-Gorlin Syndrome 7
Urethral stricture, Ventricular septal defect, Choanal atresia, Hypospadias, Aplasia/Hypoplasia o... OMIM:617063
1Q41Q42 Microdeletion Syndrome
Pulmonary hypoplasia, Congenital diaphragmatic hernia ORPHA:250999
Eosinophilic Granulomatosis With Polyangiitis
Myositis, Recurrent intrapulmonary hemorrhage, Cutis marmorata, Abnormal pleura morphology, Pulmo... ORPHA:183
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Decreased response to growth hormone stimulation test, Premature thelarche, Micropenis, Hypothyro... ORPHA:268261
Isolated Klippel-Feil Syndrome
Ventricular septal defect, Renal hypoplasia/aplasia ORPHA:2345
Cutis Laxa, Autosomal Recessive, Type Ia
Recurrent respiratory infections, Emphysema, Congenital diaphragmatic hernia OMIM:219100
Phace Association
Anomalous branches of internal carotid artery, Ventricular septal defect, Patent ductus arteriosu... OMIM:606519
Klippel-Feil Syndrome 2, Autosomal Recessive
Ventricular septal defect OMIM:214300
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Decreased fetal movement, Wide nose, Anteverted nares, Decreased response to growth hormone stimu... OMIM:213980
Xanthinuria, Type I
Xanthinuria, Xanthine nephrolithiasis, Hydronephrosis, Pyelonephritis OMIM:278300
Myasthenic Syndrome, Congenital, 21, Presynaptic
Weakness of facial musculature, Cyanosis, Knee flexion contracture OMIM:617239
Yunis-Varon Syndrome
Polyhydramnios, Micrognathia, Short metatarsal, Hydrops fetalis, Absent hallux, Micropenis, Paten... OMIM:216340
Aase-Smith Syndrome I
Flexion contracture, Ventricular septal defect OMIM:147800
Perlman Syndrome
Nephrogenic rest, Depressed nasal bridge, Renal hamartoma, Polyhydramnios, Edema, Micrognathia, C... OMIM:267000
Craniofacial-Deafness-Hand Syndrome
Depressed nasal bridge, Hypoplasia of the maxilla, Narrow naris, Malar flattening, Short nose OMIM:122880
Proteus-Like Syndrome
Mandibular prognathia, Thymus hyperplasia, Anteverted nares, Venous insufficiency, Splenomegaly, ... ORPHA:2969
Mesomelia-Synostoses Syndrome
Microretrognathia, Micromelia, Polyhydramnios, Micrognathia, Short metatarsal, Short foot, Hydron... OMIM:600383
Al-Gazali Syndrome
Hydronephrosis, Polyhydramnios, Micrognathia OMIM:609465
Holt-Oram Syndrome
Hypoplasia of the ulna, Short humerus, Ventricular septal defect, Aplasia of the ulna, Secundum a... OMIM:142900
Pelvis-Shoulder Dysplasia
Aplasia/Hypoplasia of the ribs, Aplasia/Hypoplasia of the clavicles, Aplasia/Hypoplasia of the sc... ORPHA:2839
Intellectual Developmental Disorder, X-Linked 98
Mandibular prognathia, Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Underdev... OMIM:300912
Pyruvate Dehydrogenase E1-Alpha Deficiency
Limb undergrowth, Ventricular septal defect, Abnormal medullary pyramid morphology, Low APGAR score ORPHA:79243
Diamond-Blackfan Anemia 1
Micrognathia, Depressed nasal ridge, Reticulocytopenia, Hypoplastic coccygeal vertebrae, Neutrope... OMIM:105650
Pulmonary Alveolar Microlithiasis
Cyanosis, Bronchitis, Ground-glass opacification, Respiratory tract infection, Pleural thickening... ORPHA:60025
Chondrodysplasia Punctata 2, X-Linked Dominant
Rhizomelia, Polyhydramnios, Edema, Concave nasal ridge, Hemiatrophy, Malar flattening, Hydronephr... OMIM:302960
Charge Syndrome
Polyhydramnios, Vesicoureteral reflux, Micropenis, Depressed nasal bridge, Hypogonadotropic hypog... ORPHA:138
Autoimmune Pulmonary Alveolar Proteinosis
Hypoxemia, Cyanosis, Crazy paving pattern, Intraalveolar phospholipid accumulation ORPHA:747
Proximal 16P11.2 Microduplication Syndrome
Congenital diaphragmatic hernia ORPHA:370079
Optic Atrophy 11
Facial diplegia, Increased variability in muscle fiber diameter, Fiber type grouping OMIM:617302
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Micrognathia, Wide nasal bridge, Hypoplasia of teeth, Short nose, Retrognathia OMIM:620250
Laubry-Pezzi Syndrome
Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Abnormal aortic valve cu... ORPHA:99094
Severe Generalized Junctional Epidermolysis Bullosa
Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary... ORPHA:79404
Rabson-Mendenhall Syndrome
Mandibular prognathia, Increased pineal volume, Wide nose, Enlarged ovaries, Anteverted nares, Pr... ORPHA:769
Melnick-Needles Syndrome
Delayed eruption of teeth, Obtuse angle of mandible, Short humerus, Hypoplastic scapulae, Uretera... OMIM:309350
Endove Syndrome, Limb-Brain Type
Hydronephrosis, Neurogenic bladder, Recurrent urinary tract infections, Aplasia of the 3rd finger OMIM:619218
Short-Rib Thoracic Dysplasia 12
Natal tooth, Hypoplastic scapulae, Ventricular septal defect, Polyhydramnios, Edema, Splenomegaly... OMIM:269860
Atelosteogenesis, Type I
11 pairs of ribs, Short humerus, Short metacarpal, Short femur, Depressed nasal bridge, Premature... OMIM:108720
Chromosome 6Pter-P24 Deletion Syndrome
Ventricular septal defect, Depressed nasal bridge, Patent ductus arteriosus, Short 2nd toe, Atria... OMIM:612582
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Proteinuria, Heparan sulfate excretion in urine, Thrombocytopenia, Patent ductus arteriosus, Enla... ORPHA:505248
Lujo Hemorrhagic Fever
Ecchymosis, Atelectasis, Purpura ORPHA:319213
Matthew-Wood Syndrome
Abnormal lung morphology, Pulmonary hypoplasia, Congenital diaphragmatic hernia ORPHA:2470
Oculodentodigital Dysplasia
Narrow nasal bridge, Neurogenic bladder, Anteverted nares, Underdeveloped nasal alae, Carious tee... OMIM:164200
Atelis Syndrome 2
Micrognathia, Prominent nose, Thrombocytopenia, Bulbous nose, Patent ductus arteriosus, Elevated ... OMIM:620185
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Ventricular septal defect, Hypospadias, Cryptorchidism, Absent pulmonary artery, Patent ductus ar... OMIM:600460
Ellis Van Creveld Syndrome
Delayed eruption of teeth, Hydroureter, Ventricular septal defect, Dextrocardia, Abnormal heart v... ORPHA:289
Leukodystrophy, Hypomyelinating, 10
Malar flattening, Bulbous nose, Anteverted nares, Short nose OMIM:616420
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Narrow nasal bridge, Short nose, Edema of the dorsum of feet, Edema of the dorsum of hands ORPHA:544503
Tbck-Related Intellectual Disability Syndrome
Mandibular prognathia, 11 pairs of ribs, Neurogenic bladder, Hyperthyroidism, Ventricular septal ... ORPHA:488632
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Hypoplasia of the maxilla, Short nose, Wide nasal bridge OMIM:218000
Fetal Hydantoin Syndrome
Thickened nuchal skin fold, Cryptorchidism, Depressed nasal ridge, Short nose, Short distal phala... ORPHA:1912
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Elbow flexion contracture, Congenital diaphragmatic hernia OMIM:618022
Meckel Syndrome, Type 4
Atrial septal defect, Bile duct proliferation, Ventricular septal defect, Renal cyst OMIM:611134
3Mc Syndrome 1
Ventricular septal defect, Supernumerary nipple, Patent ductus arteriosus, Short foot, Short 5th ... OMIM:257920
Osteopetrosis With Renal Tubular Acidosis
Pancytopenia, Micrognathia, Persistence of primary teeth, Thrombocytopenia, Distal renal tubular ... ORPHA:2785
Marshall Syndrome
Depressed nasal bridge, Anteverted nares, Micrognathia, Hypoplasia of the maxilla, Hypoplastic fr... ORPHA:560
Keutel Syndrome
Sinusitis, Ventricular septal defect, Depressed nasal bridge, Cartilaginous ossification of nose,... OMIM:245150
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Prominent nasal bridge, Underdeveloped nasal alae, Aplasia of the distal phalanx of the 5th toe, ... ORPHA:364577
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Severe B lymphocytopenia, Micrognathia, Underdeveloped nasal alae, Biliary hyperplasia, Cryptorch... ORPHA:83617
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Micrognathia, Short metatarsal, Patellar hypoplasia, Hand monodactyly, Atrial septal defect, Micr... OMIM:609945
Arboleda-Tham Syndrome
Microretrognathia, Mandibular prognathia, Recurrent urinary tract infections, Ventricular septal ... OMIM:616268
Intellectual Developmental Disorder, Autosomal Dominant 1
Mandibular prognathia, Prominent nose, Micrognathia, Bulbous nose, Depressed nasal ridge, Micrope... OMIM:156200
Diarrhea 10, Protein-Losing Enteropathy Type
Polyuria, Polyhydramnios, Micrognathia, Pericardial effusion, Cryptorchidism, Recurrent upper res... OMIM:618183
Benign Familial Neonatal Epilepsy
Circumoral cyanosis ORPHA:1949
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Short nose, Dental malocclusion, Polyhydramnios, Micrognathia ORPHA:329178
Lymphangioleiomyomatosis
Recurrent respiratory infections, Atelectasis, Pneumothorax, Pulmonary infiltrates, Chylothorax, ... ORPHA:538
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Sinusitis, Ventricular septal defect, Micrognathia, Renal hypoplasia/aplasia, Abnormal renal morp... ORPHA:363700
Kaufman Oculocerebrofacial Syndrome
Ventricular septal defect, Depressed nasal bridge, Anteverted nares, Micrognathia, Carious teeth,... OMIM:244450
Ritscher-Schinzel Syndrome 2
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Pulmonary artery hypoplasia,... OMIM:300963
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Short nose, Depressed nasal bridge, Polyhydramnios, Micrognathia OMIM:619833
Loeys-Dietz Syndrome 2
Bicuspid aortic valve, Micrognathia, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve... OMIM:610168
Fanconi Anemia, Complementation Group C
Duplicated collecting system, Pancytopenia, Ventricular septal defect, Hypergonadotropic hypogona... OMIM:227645
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome
Short nose, Micrognathia ORPHA:1129
Cardiomyopathy, Dilated, 1S
Bicuspid aortic valve, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Coarctatio... OMIM:613426
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Myopathy, Increased variability in muscle fiber diameter OMIM:604377
16P11.2P12.2 Microdeletion Syndrome
Microretrognathia, Anteverted nares, Long nose, Bulbous nose, Absent nasal bridge, Short palm, Sh... ORPHA:261211
Laryngotracheal Angioma
Cyanosis ORPHA:137935
Combined Oxidative Phosphorylation Deficiency 25
Depressed nasal bridge, Anteverted nares, Intraventricular hemorrhage, Wide nasal bridge, Short n... OMIM:616430
Trisomy 10P
Absent gallbladder, Depressed nasal bridge, Anteverted nares, Abnormality of the kidney, Abnormal... ORPHA:171929
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Short nose, Anteverted nares OMIM:619854
Congenital Tricuspid Valve Dysplasia
Hypoxemia, Cyanosis, Anomalous pulmonary venous return, Right ventricular hypertrophy ORPHA:555874
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Cryptorchidism, Hydronephrosis OMIM:618060
Campomelic Dysplasia
11 pairs of ribs, Depressed nasal bridge, Small abnormally formed scapulae, Micrognathia, Fibular... ORPHA:140
Arterial Tortuosity Syndrome
Myocarditis, Abnormal zygomatic bone morphology, Dilated cardiomyopathy, Pulmonary artery stenosi... ORPHA:3342
Acrofacial Dysostosis 1, Nager Type
Aplasia/Hypoplasia of the thumb, Ventricular septal defect, Prominent nasal bridge, Premature bir... OMIM:154400
19P13.12 Microdeletion Syndrome
Narrow nasal bridge, Ventricular septal defect, Anteverted nares, Hypospadias, Precocious puberty... ORPHA:254346
Tetrasomy 12P
Delayed eruption of teeth, Short nose, Anteverted nares ORPHA:884
Granulomatosis With Polyangiitis
Glomerulopathy, Pericarditis, Sinusitis, Ureteral stenosis, Epistaxis, Renal insufficiency, Abnor... ORPHA:900
Chromosome 16P13.3 Duplication Syndrome
Wide nose, Depressed nasal bridge, Anteverted nares, Ventricular septal defect, Micrognathia, Sho... OMIM:613458
Frontofacionasal Dysplasia
Depressed nasal bridge, Choanal atresia, Bifid nasal tip, Depressed nasal ridge, Dimple on nasal ... ORPHA:1791
Non-Syndromic Posterior Hypospadias
Congenital diaphragmatic hernia ORPHA:95706
Bannayan-Riley-Ruvalcaba Syndrome
Neoplasm of the adrenal cortex, Wide nose, Anteverted nares, Micrognathia, Lymphedema, Intracrani... ORPHA:109
Branchio-Oculo-Facial Syndrome
Multicystic kidney dysplasia, Renal agenesis, Broad nasal tip, Wide nasal bridge, Hydronephrosis ORPHA:1297
Laryngotracheoesophageal Cleft
Recurrent respiratory infections, Cyanosis ORPHA:2004
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Abnormal nasopharynx morphology, Absence of Stensen duct, Decreased response to growth hormone st... OMIM:129900
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cyanosis, Limb hypertonia OMIM:619580
Osteoglophonic Dysplasia
Mandibular prognathia, Hypoplasia of the maxilla, Short metatarsal, Eruption failure, Short palm,... OMIM:166250
Biliary, Renal, Neurologic, And Skeletal Syndrome
Anterior pituitary hypoplasia, Edema, Polyhydramnios, Secundum atrial septal defect, Primum atria... OMIM:619534
Fetal Akinesia Deformation Sequence 1
Decreased fetal movement, Premature birth, Nonimmune hydrops fetalis, Polyhydramnios, Fetal akine... OMIM:208150
White-Kernohan Syndrome
Hydroureter, Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Horseshoe kidne... OMIM:619426
1P36 Deletion Syndrome
Hypoplasia of penis, Abnormality of the spleen, Depressed nasal ridge, Renal cyst, Hypothyroidism... ORPHA:1606
Gomez-Lopez-Hernandez Syndrome
Malar flattening, Short nose, Anteverted nares, Decreased response to growth hormone stimulation ... OMIM:601853
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Anteverted nares, Hypospadias, Micrognathia, Cryptorchidism, Patent ductus arteriosus, Wide nasal... ORPHA:2282
5Q14.3 Microdeletion Syndrome
Short nose, Anteverted nares ORPHA:228384
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Micrognathia, Splenomegaly, Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, Renal artery steno... OMIM:617913
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Hydroureter, Polyhydramnios, Megacystis, Fetal megacystis, Hydronephrosis OMIM:619362
Desbuquois Dysplasia 1
Microretrognathia, Depressed nasal bridge, Short metatarsal, Concave nasal ridge, Short femoral n... OMIM:251450
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Multicystic kidney dysplasia, Anteverted nares, Underdeveloped nasal alae, Renal cyst, Short nose ORPHA:2031
Down Syndrome
Thickened nuchal skin fold, Depressed nasal bridge, Renal hypoplasia/aplasia, Abnormality of the ... ORPHA:870
Lateral Meningocele Syndrome
Neurogenic bladder, Ventricular septal defect, Bicuspid aortic valve, Micrognathia, Cryptorchidis... OMIM:130720
Netherton Syndrome
Aminoaciduria, Hydronephrosis, Dehydration, Ectopic kidney ORPHA:634
Hypoadrenocorticism, Familial
Cyanosis OMIM:240200
Desmoid Tumor
Hydronephrosis, Abnormality of the upper urinary tract ORPHA:873
Acquired Methemoglobinemia
Hypoxemia, Cyanosis ORPHA:464453
Congenital Tracheal Stenosis
Ventricular septal defect, Abnormality of the kidney, Fetal ascites, Polyhydramnios, Ascending ao... ORPHA:141127
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Decreased fetal movement, Thymus hyperplasia, Polyhydramnios, Micrognathia, Chylothorax OMIM:619036
Hsd10 Disease, Infantile Type
Cyanosis ORPHA:391428
Liver Disease, Severe Congenital
Cardiomegaly, Micrognathia, Biliary hyperplasia, Leukopenia, Aminoaciduria, Lymphocytosis, Atrial... OMIM:619991
Neurodegeneration With Brain Iron Accumulation 2A
Short nose, Micrognathia OMIM:256600
Smith-Kingsmore Syndrome
Rhizomelia, Depressed nasal bridge, Short proximal phalanx of finger, Cryptorchidism, Short nose,... OMIM:616638
Robinow Syndrome, Autosomal Dominant 2
Depressed nasal bridge, Anteverted nares, Micrognathia, Cryptorchidism, Dental malocclusion, Micr... OMIM:616331
Ataxia-Telangiectasia
Sinusitis, Diabetes mellitus, Female hypogonadism, Acute lymphoblastic leukemia, T lymphocytopeni... OMIM:208900
Hepatoerythropoietic Porphyria
Hemolytic anemia, Erythrodontia, Nonimmune hydrops fetalis, Edema, Splenomegaly, Red-brown urine,... ORPHA:95159
X-Linked Dominant Chondrodysplasia Punctata
Hydronephrosis, Depressed nasal bridge, Hypoplastic cervical vertebrae, Abnormality of prenatal d... ORPHA:35173
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Recurrent upper r... OMIM:602450
Codas Syndrome
Delayed eruption of teeth, Short humerus, Short metacarpal, Ventricular septal defect, Depressed ... OMIM:600373
Restrictive Dermopathy
Ureteral duplication, Premature delivery because of cervical insufficiency or membrane fragility,... ORPHA:1662
Orofaciodigital Syndrome Type 1
Multicystic kidney dysplasia, Renal insufficiency, Proteinuria, Abnormal dental enamel morphology... ORPHA:2750
Oculopharyngodistal Myopathy 1
Autophagic vacuoles, Facial palsy, Hypercapnia, Distal amyotrophy, Increased variability in muscl... OMIM:164310
Acquired Von Willebrand Syndrome
Normocytic anemia, Refractory anemia, Epistaxis, Gastrointestinal angiodysplasia, Intracranial he... ORPHA:99147
Cleft Larynx, Posterior
Cyanosis OMIM:215800
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Skeletal muscle atrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Ragged-red... OMIM:607459
Combined Oxidative Phosphorylation Deficiency 19
Increased variability in muscle fiber diameter OMIM:615595
Native American Myopathy
Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Congenital contracture, Campt... ORPHA:168572
Schinzel-Giedion Syndrome
Delayed eruption of teeth, Myeloid leukemia, Streak ovary, Nephroblastoma, Hypospadias, Broad nas... ORPHA:798
Myopathy With Extrapyramidal Signs
Leukocytosis, Splenomegaly, Ventricular septal defect, Anteverted nares OMIM:615673
Cadds
Short nose, Adrenal hypoplasia, Micrognathia ORPHA:369942
Frontometaphyseal Dysplasia
Short metacarpal, Micrognathia, Urethral stenosis, Short metatarsal, Wide nasal bridge, Abnormal ... ORPHA:1826
Whim Syndrome
Pneumonia, Respiratory tract infection, Atelectasis, Recurrent upper respiratory tract infections... ORPHA:51636
Noonan Syndrome 7
Atrial septal defect, Hypertrophic cardiomyopathy, Depressed nasal bridge, Pulmonic stenosis OMIM:613706
Weill-Marchesani Syndrome 1
Ventricular septal defect, Depressed nasal bridge, Hypoplasia of the maxilla, Patent ductus arter... OMIM:277600
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Congenital diaphragmatic hernia OMIM:606164
Kabuki Syndrome 1
Ureteropelvic junction obstruction, Hemolytic anemia, Crossed fused renal ectopia, Ventricular se... OMIM:147920
Glycogen Storage Disease Of Heart, Lethal Congenital
Cyanosis, Macroglossia, Myopathy, Pleural effusion, Pulmonary edema OMIM:261740
Opitz Gbbb Syndrome
Abnormal nasopharynx morphology, Ventricular septal defect, Anteverted nares, Hypospadias, Rectou... OMIM:300000
Epidermolysis Bullosa Simplex With Pyloric Atresia
Renal dysplasia, Polyhydramnios, Abnormality of the urethra, Aplasia of the bladder, Abnormality ... ORPHA:158684
Noonan Syndrome 14
Prominent nasal bridge, Polyhydramnios, Cryptorchidism, Mitral valve prolapse, Prominent nasolabi... OMIM:619745
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Mandibular prognathia, Short nose OMIM:618087
Joubert Syndrome 14
Ventricular septal defect, Prominent nasal bridge, Renal cyst, Intracranial hemorrhage, Malar fla... OMIM:614424
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Duplicated collecting system, Diabetes mellitus, Hepatosplenomegaly, Hydronephrosis, Oligohydramnios ORPHA:541423
Antley-Bixler Syndrome
Anteverted nares, Choanal atresia, Abnormal renal morphology, Hypoplasia of the zygomatic bone, S... ORPHA:83
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Hydroureter, Megacystis, Hydronephrosis, Oligohydramnios OMIM:619431
X-Linked Intellectual Disability, Cantagrel Type
Short nose ORPHA:85277
Congenital Erythropoietic Porphyria
Hemolytic anemia, Reticulocytosis, Erythrodontia, Nonimmune hydrops fetalis, Anisocytosis, Edema,... ORPHA:79277
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Bicuspid aortic valve, Ventricular septal defect, Abnormality of the endocrine system, Precocious... ORPHA:438213
Lipodystrophy, Congenital Generalized, Type 4
Centrally nucleated skeletal muscle fibers, Flexion contracture, Recurrent pneumonia, Skeletal mu... OMIM:613327
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Increased variability in muscle fiber diameter, Increased muscle glycogen content, Increased intr... ORPHA:502423
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Sinusitis, Recurrent urinary tract infections, Choanal atresia, Mala... OMIM:251260
Peho Syndrome
Anteverted nares, Palpebral edema, Pedal edema, Peripheral edema, Malar flattening, Short nose ORPHA:2836
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Thickened nuchal skin fold, Hydroureter, Premature birth, Abnormality of the kidney, Micromelia, ... ORPHA:2636
Acrocephalopolydactylous Dysplasia
Pancreatic fibrosis, Micromelia, Polysplenia, Short nose, Ascites, Cystic renal dysplasia, Enlarg... OMIM:200995
Otopalatodigital Syndrome, Type I
Short hallux, Absent frontal sinuses, Wide nasal bridge, Multiple impacted teeth, Short 3rd metac... OMIM:311300
Monosomy 22
Wide nose, Aplasia of the thymus, Hypochromic microcytic anemia, Hepatosplenomegaly, Joint swelli... ORPHA:96123
Campomelic Dysplasia
11 pairs of ribs, Absent sternal ossification, Depressed nasal bridge, Hypoplastic scapulae, Poly... OMIM:114290
Mosaic Trisomy 20
Ventricular septal defect, Abnormality of the kidney, Micrognathia, Cryptorchidism, Dysplastic tr... ORPHA:1724
Hypermethioninemia Due To Adenosine Kinase Deficiency
Secundum atrial septal defect, Pulmonic stenosis, Coarctation of aorta OMIM:614300
Rhombencephalosynapsis
Microretrognathia, Short nose, Abnormal renal morphology, Anteverted nares ORPHA:59315
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Atrial septal defect, Cryptorchidism, Aortic root aneurysm, Ventricular septal defect OMIM:301039
Glycogen Storage Disease Xii
Myopathy, Jaundice, Increased variability in muscle fiber diameter, Muscle fiber splitting OMIM:611881
Zygomycosis
Atelectasis, Pneumothorax, Pulmonary infiltrates, Acute infectious pneumonia, Air crescent sign, ... ORPHA:73263
Wiedemann-Rautenstrauch Syndrome
Decreased response to growth hormone stimulation test, Congenital malformation of the left heart,... ORPHA:3455
Marshall-Smith Syndrome
Microretrognathia, Prominence of the premaxilla, Depressed nasal bridge, Anteverted nares, Choana... OMIM:602535
Williams Syndrome
Hypoplasia of penis, Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, ... ORPHA:904
Dravet Syndrome
Cyanotic episode ORPHA:33069
Short Stature And Facioauriculothoracic Malformations
Ventricular septal defect OMIM:609654
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Atrial septal defect, Frontal polymicrogyria, Ventricular septal defect, Patent ductus arteriosus... OMIM:620024
Complete Atrioventricular Septal Defect
Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, Displacement o... ORPHA:1329
Diets-Jongmans Syndrome
Ventricular septal defect, Hypospadias, Polyhydramnios, Broad nasal tip, Breech presentation, Cry... OMIM:618846
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Short fourth metatarsal, Short metacarpal, Depressed nasal bridge, Patent ductus arteriosus, Incr... ORPHA:457395
Warsaw Breakage Syndrome
Tetralogy of Fallot, Ventricular septal defect OMIM:613398
Toriello-Lacassie-Droste Syndrome
Abnormal penis morphology, Anteverted nares, Hypospadias, Polyhydramnios, Epispadias, Abnormality... ORPHA:3339
Den Hoed-De Boer-Voisin Syndrome
Delayed eruption of teeth, Recurrent urinary tract infections, Ventricular septal defect, Prematu... OMIM:619229
Spondylodysplastic Ehlers-Danlos Syndrome
Prominent scalp veins, Abnormality of the temporomandibular joint, Agenesis of pineal gland, Depr... ORPHA:536471
Chromosome 15Q25 Deletion Syndrome
Macrocytic anemia, Ventricular septal defect, Dextrocardia, Cryptorchidism, Coronary artery fistu... OMIM:614294
Gapo Syndrome
Prominent scalp veins, Depressed nasal bridge, Anteverted nares, Micrognathia, Retinal arteriolar... OMIM:230740
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Increased variability in muscle fiber diameter, Ragged-red muscle fibers ORPHA:70595
Marshall-Smith Syndrome
Short nose, Retrognathia, Anteverted nares, Choanal atresia ORPHA:561
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Short metacarpal, Short fourth metatarsal, Depressed nasal bridge, Premature rupture of membranes... OMIM:616723
Waardenburg Syndrome Type 1
Mandibular prognathia, Short nose, Wide nasal bridge, Underdeveloped nasal alae ORPHA:894
Zttk Syndrome
Absent gallbladder, Ventricular septal defect, Depressed nasal bridge, Unilateral renal agenesis,... OMIM:617140
Cornelia De Lange Syndrome 1
Micromelia, Micrognathia, Ectopic kidney, Renal cyst, Vesicoureteral reflux, Phocomelia, Antevert... OMIM:122470
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Cyanosis OMIM:250800
Lathosterolosis
Foam cells with lamellar inclusion bodies, Anteverted nares, Bilobate gallbladder, Increased mean... OMIM:607330
Pallister-Hall Syndrome
Adrenal hypoplasia, Ectopic kidney, Depressed nasal ridge, Gonadotropin deficiency, Atrial septal... ORPHA:672
Cohen Syndrome
Decreased fetal movement, Ventricular septal defect, Prominent nasal bridge, Micrognathia, Hypopl... ORPHA:193
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Advanced eruption of teeth, Short nose, Depressed nasal bridge, Broad columella OMIM:617865
Pontocerebellar Hypoplasia, Type 8
Patent foramen ovale, Ventricular septal defect, Anteverted nares OMIM:614961
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Prominent nose, Atrial septal defect, Depressed nasal bridge, Abnormal circulating thyroid hormon... ORPHA:480880
Geleophysic Dysplasia 1
Mitral stenosis, Anteverted nares, Tricuspid stenosis, Short foot, Aortic valve stenosis, Short p... OMIM:231050
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Mandibular prognathia, Depressed nasal bridge, Decreased response to growth hormone stimulation t... OMIM:616007
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Ventricular septal defect, Prominent nasal bridge, Polyhydramnios, Bulbous nose, Wide nasal bridg... OMIM:617360
Difference Of Sex Development-Intellectual Disability Syndrome
Short nose, Hypoplasia of penis, Hypogonadism ORPHA:2983
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Overriding aorta, Absent gallbladder, Mi... ORPHA:3186
Marshall Syndrome
Depressed nasal bridge, Anteverted nares, Micrognathia, Absent frontal sinuses, Hypoplastic nasal... OMIM:154780
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Short nose ORPHA:289266
Mitochondrial Complex I Deficiency, Nuclear Type 1
Ragged-red muscle fibers, Skeletal muscle atrophy, Cyanosis, Increased intramyocellular lipid dro... OMIM:252010
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Ventricular septal defect, Prominent nasal bridge, Underdeveloped nasal alae, Micrognathia, Aplas... OMIM:608670
Bartsocas-Papas Syndrome 1
Decreased fetal movement, Short metacarpal, Hypoplastic scapulae, Underdeveloped nasal alae, Hypo... OMIM:263650
Lissencephaly 9 With Complex Brainstem Malformation
Ventricular septal defect, Depressed nasal bridge OMIM:618325
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... OMIM:620066
Cerebrocostomandibular Syndrome
11 pairs of ribs, 10 pairs of ribs, Short humerus, Ventricular septal defect, Polyhydramnios, Mic... OMIM:117650
Williams-Beuren Syndrome
Bicuspid aortic valve, Nephrocalcinosis, Early onset of sexual maturation, Atrial septal defect, ... OMIM:194050
Coffin-Siris Syndrome 1
Delayed eruption of teeth, Hydroureter, Depressed nasal bridge, Choanal atresia, Ventricular sept... OMIM:135900
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Secundum atrial septal defect, Enamel hypoplasia, Depressed nasal bridge, Pulmonic stenosis OMIM:615802
17Q24.2 Microdeletion Syndrome
Decreased response to growth hormone stimulation test, Micrognathia, Patent ductus arteriosus aft... ORPHA:529962
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Decreased hemoglobin concentration, Depressed nasal bridge, Anteverted nares, Underdeveloped nasa... OMIM:619005
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Ventricular septal defect, Anteverted nares, Decreased response to growth hormone stimulation tes... ORPHA:444077
Temtamy Preaxial Brachydactyly Syndrome
Short hallux, Micrognathia, Hypoplasia of the maxilla, Talon cusp, Short foot, Short palm, Short ... ORPHA:363417
Restrictive Dermopathy 2
Cyanosis OMIM:619793
Osteopathia Striata With Cranial Sclerosis
Natal tooth, Multicystic kidney dysplasia, Paranasal sinus hypoplasia, Ventricular septal defect,... OMIM:300373
Robinow Syndrome, Autosomal Dominant 1
Delayed eruption of teeth, Depressed nasal bridge, Anteverted nares, Rhizomelia, Micrognathia, Pe... OMIM:180700
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Increased variability in muscle fiber diameter, Muscular dystrophy OMIM:616538
Mitochondrial Phosphate Carrier Deficiency
Cyanosis OMIM:610773
Hajdu-Cheney Syndrome
Wide nose, Anteverted nares, Ventricular septal defect, Hypospadias, Micrognathia, Absent frontal... ORPHA:955
Warburg Micro Syndrome 3
Short nose, Micropenis, Decreased testicular size, Micrognathia OMIM:614222
Dubowitz Syndrome
Delayed eruption of teeth, Aplasia/Hypoplasia of the thumb, Hypoparathyroidism, Depressed nasal b... ORPHA:235
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Short nose, Epistaxis, Cerebral hemorrhage, Short distal phalanx of finger OMIM:277450
Lathosterolosis
Hypoplasia of penis, Anteverted nares, Micrognathia, Bulbous nose, Anisopoikilocytosis, Abnormal ... ORPHA:46059
Pontocerebellar Hypoplasia, Type 2E
Wide nose, Short nose, Micrognathia OMIM:615851
Gabriele-De Vries Syndrome
Decreased response to growth hormone stimulation test, Micrognathia, Hypothyroidism, Bulbous nose... ORPHA:506358
Opsismodysplasia
Hypoplastic vertebral bodies, Splenomegaly, Short nose, Depressed nasal bridge ORPHA:2746
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Microretrognathia, Cryptorchidism, Mitral valve prolapse, Nephrotic syndrome, Short columella, Tr... OMIM:601776
Holoprosencephaly
Hypoplasia of penis, Abnormality of the spleen, Depressed nasal ridge, Absent nares, Aplasia/Hypo... ORPHA:2162
Goldberg-Shprintzen Syndrome
Ventricular septal defect, Prominent nasal bridge, Hypoplasia of the maxilla, Bulbous nose, Small... OMIM:609460
Microphthalmia, Lenz Type
Delayed eruption of teeth, Hydroureter, Hypospadias, Renal hypoplasia/aplasia, Cryptorchidism, Hy... ORPHA:568
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Wide nose, Ventricular septal defect, Polyhydramnios, Underdeveloped nasal alae, Cryptorchidism, ... OMIM:617506
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulating dehydroepiandros... ORPHA:95699
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Bulbous nose, Depressed nasal bridge, Short nose OMIM:618430
16Q24.3 Microdeletion Syndrome
Ventricular septal defect, Anteverted nares, Micrognathia, Cryptorchidism, Dilated cardiomyopathy... ORPHA:261250
Congenital Tracheomalacia
Ventricular septal defect, Premature birth, Cardiomegaly, Patent ductus arteriosus, Partial anoma... ORPHA:95430
Acrocallosal Syndrome
Mandibular prognathia, Microretrognathia, Hypospadias, Abnormal pulmonary valve morphology, Persi... OMIM:200990
Alzahrani-Kuwahara Syndrome
Ventricular septal defect, Pulmonary artery sling, Coronary sinus enlargement, Prominent nose, Mi... OMIM:619268
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Type 1 fibers relatively smaller than type 2 fibers, Facial palsy OMIM:619424
15Q24 Microdeletion Syndrome
Congenital diaphragmatic hernia ORPHA:94065
Pfeiffer Syndrome Type 1
Aplasia/Hypoplasia of the thumb, Depressed nasal bridge, Short hallux, Short foot, Short palm, Sh... ORPHA:93258
Limb Body Wall Complex
Depressed nasal bridge, Choanal atresia, Ventricular septal defect, Aplasia/hypoplasia involving ... ORPHA:2369
Pulmonary Arteriovenous Malformation
Cyanosis, Telangiectasia, Hypoxemia, Pleural empyema, Pulmonary hemorrhage, Hemothorax ORPHA:2038
Meier-Gorlin Syndrome 6
Microretrognathia, Anteverted nares, Depressed nasal bridge, Decreased response to growth hormone... OMIM:616835
Thoracoabdominal Syndrome
Renal agenesis, Hypospadias, Patent ductus arteriosus, Transposition of the great arteries, Ectop... OMIM:313850
Thauvin-Robinet-Faivre Syndrome
Renal malrotation, Transient neutropenia, Ventricular septal defect, Pedal edema, Mitral valve pr... OMIM:617107
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Microretrognathia, Accessory spleen, Ventricular septal defect, Depressed nasal bridge, Premature... OMIM:619418
Tetrasomy 18P
Short nose ORPHA:3307
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Skeletal muscle hypertrophy, Macroglossia, Congenital contracture, Muscular dystrophy, Increased ... OMIM:613150
Myopathy, Mitochondrial, And Ataxia
Increased variability in muscle fiber diameter, Distal amyotrophy OMIM:617675
Helsmoortel-Van Der Aa Syndrome
Recurrent urinary tract infections, Anteverted nares, Decreased response to growth hormone stimul... OMIM:615873
19P13.13 Microdeletion Syndrome
Depressed nasal bridge, Anteverted nares, Increased nuchal translucency, Malar flattening, Short ... ORPHA:357001
Granulomatous Disease, Chronic, X-Linked
Atelectasis, Pleural effusion, Recurrent pneumonia, Air bronchogram OMIM:306400
Distal 22Q11.2 Microduplication Syndrome
Mandibular prognathia, Wide nose, Ventricular septal defect, Palpebral edema, Unilateral renal ag... ORPHA:261337
Neu-Laxova Syndrome 1
Decreased fetal movement, Wide nose, Ventricular septal defect, Renal agenesis, Polyhydramnios, F... OMIM:256520
Autosomal Recessive Spondylocostal Dysostosis
Anomalous pulmonary venous return, Camptodactyly of finger, Congenital diaphragmatic hernia ORPHA:2311
Ethylmalonic Encephalopathy
Acrocyanosis, Petechiae ORPHA:51188
Chromosome 1Q41-Q42 Deletion Syndrome
Ventricular septal defect, Depressed nasal bridge, Anteverted nares, Broad nasal tip, Supernumera... OMIM:612530
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Hypoplasia of penis, Recurrent urinary tract infections, Anteverted nares, Abnormal hemoglobin, A... ORPHA:847
Hajdu-Cheney Syndrome
Wide nose, Ventricular septal defect, Anteverted nares, Hypospadias, Micrognathia, Absent frontal... OMIM:102500
Dermatomyositis
Recurrent respiratory infections, Telangiectasia of the skin, Erythema, Abnormal pulmonary inters... ORPHA:221
Niemann-Pick Disease Type C
Fetal ascites, Bone-marrow foam cells, Splenomegaly, Hydrops fetalis, Hepatosplenomegaly, Foam ce... ORPHA:646
Congenital Disorder Of Glycosylation, Type Iiw
Wide nose, Membranoproliferative glomerulonephritis, Ventricular septal defect, Microscopic hemat... OMIM:619525
Renpenning Syndrome 1
Mandibular prognathia, Ventricular septal defect, Hypospadias, Micrognathia, Situs inversus total... OMIM:309500
Cerebellofaciodental Syndrome
Ventricular septal defect, Cryptorchidism, Dental malocclusion, Shortening of all distal phalange... OMIM:616202
Myasthenia Gravis
Myositis, Acrocyanosis ORPHA:589
Cardiospondylocarpofacial Syndrome
Decreased fetal movement, Anteverted nares, Ventricular septal defect, Bulbous nose, Muscular ven... OMIM:157800
Cornelia De Lange Syndrome
Hypoplasia of penis, Micromelia, Micrognathia, Vesicoureteral reflux, Atrial septal defect, Multi... ORPHA:199
Johanson-Blizzard Syndrome
Atrial septal defect, Hypoplasia of the primary teeth, Micropenis, Hypothyroidism, Hypospadias, U... OMIM:243800
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Missing ribs, Urethral atresia, Single umbilical artery, Short ribs, Hydronephrosis, Oligohydramnios OMIM:271520
Encephalopathy, Ethylmalonic
Acrocyanosis, Petechiae OMIM:602473
Brain-Lung-Thyroid Syndrome
Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Ventricular septal defect, Hypospad... ORPHA:209905
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Anteverted nares, Dilatation of the cerebral artery, Malar flattening, Short nose, Thrombocytopenia OMIM:612394
Hereditary Bullous Dystrophy, Macular Type
Acrocyanosis, Pneumonia ORPHA:1867
Dend Syndrome
Short nose, Anteverted nares, Elevated hemoglobin A1c, Dehydration ORPHA:79134
Mietens Syndrome
Hypoplasia of the ulna, Wide nose, Hypoplasia of the radius, Wide nasal bridge, Short nose ORPHA:2557
Choanal Atresia
Recurrent respiratory infections, Cyanosis ORPHA:137914
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Anteverted nares, Broad nasal tip, Carious teeth, Prominent veins on trunk, Prominent nasolabial ... ORPHA:357074
Mandibuloacral Dysplasia With Type B Lipodystrophy
Aplasia/Hypoplasia of the clavicles, Micrognathia, Delayed puberty, Short nose, Convex nasal ridg... ORPHA:90154
Catel-Manzke Syndrome
Short humerus, Short metacarpal, Overriding aorta, Ventricular septal defect, Dextrocardia, Short... OMIM:616145
Lacrimoauriculodentodigital Syndrome
Abnormal dental enamel morphology, Choanal atresia, Micrognathia, Absent thumb, Short thumb, Cari... ORPHA:2363
Stuve-Wiedemann Syndrome 1
Anteverted nares, Micrognathia, Carious teeth, Low hanging columella, Pulmonary arterial medial h... OMIM:601559
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Phocomelia, Aplasia of the thymus ORPHA:3004
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Short metacarpal, Recurrent urinary tract infections, Depressed nasal bridge, Anteverted nares, P... OMIM:617157
Monosomy 22Q13.3
Renal dysplasia, Palpebral edema, Lymphedema, Bulbous nose, Dental malocclusion, Wide nasal bridg... ORPHA:48652
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Atelectasis, Recurrent respiratory infections, Pulmonary fibrosis OMIM:618278
Nablus Mask-Like Facial Syndrome
Depressed nasal bridge, Anteverted nares, Short hallux, Hypoplasia of the maxilla, Cryptorchidism... OMIM:608156
Congenital Disorder Of Glycosylation, Type Iia
Mandibular prognathia, Ventricular septal defect, Prominent nasal bridge, Retrognathia, Convex na... OMIM:212066
Spondylo-Ocular Syndrome
Facial hypotonia, Ventricular septal defect ORPHA:85194
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
Ethylene Glycol Poisoning
Cyanosis, Facial palsy, Pulmonary edema ORPHA:31826
Peters-Plus Syndrome
Ureteral duplication, Bilobate gallbladder, Polyhydramnios, Micrognathia, Hypoplasia of the maxil... OMIM:261540
Fontaine Progeroid Syndrome
Mandibular prognathia, Atrial septal defect, Prominent superficial veins, Absent nipple, Depresse... OMIM:612289
Mckusick-Kaufman Syndrome
Hydroureter, Edema, Cryptorchidism, Pedal edema, Polycystic kidney dysplasia, Vesicovaginal fistu... OMIM:236700
Rothmund-Thomson Syndrome, Type 2
Mandibular prognathia, Delayed eruption of teeth, Depressed nasal bridge, Micrognathia, Short thu... OMIM:268400
Beck-Fahrner Syndrome
Facial hypotonia, Ventricular septal defect, Cardiomegaly OMIM:618798
Pfeiffer Syndrome Type 2
Depressed nasal bridge, Choanal atresia, Short hallux, Small hand, Short foot, Malar flattening, ... ORPHA:93259
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Anteverted nares, Choanal atresia, Ventricular septal defect, Partial anomalous pulmonary venous ... OMIM:301044
Cutis Laxa, Autosomal Recessive, Type Iia
Carious teeth, Malar flattening, Short nose, Anteverted nares OMIM:219200
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Accessory spleen, Ventricular septal defect, Wide nasal bridge, Depressed nasal tip OMIM:619306
Frontometaphyseal Dysplasia 2
Short metacarpal, Neurogenic bladder, Bicuspid aortic valve, Depressed nasal bridge, Broad nasal ... OMIM:617137
Proboscis Lateralis
Aplasia/Hypoplasia of the maxilla, Ventricular septal defect, Choanal atresia, Proboscis, Unilate... ORPHA:141099
Atrial Septal Defect, Ostium Primum Type
Left ventricular hypertrophy, Recurrent respiratory infections, Pulmonary artery dilatation, Cyan... ORPHA:99106
Weill-Marchesani Syndrome 2
Short metacarpal, Ventricular septal defect, Depressed nasal bridge, Hypoplasia of the maxilla, P... OMIM:608328
Pontocerebellar Hypoplasia, Type 10
Underdeveloped nasal alae, Cryptorchidism, Bulbous nose, Wide nasal bridge, Short nose, Low hangi... OMIM:615803
Neurocardiofaciodigital Syndrome
Patent ductus arteriosus, Retrognathia, Vesicoureteral reflux, Double inlet left ventricle, Atria... OMIM:619869
Genitopalatocardiac Syndrome
Congenital diaphragmatic hernia ORPHA:2075
Arterial Tortuosity Syndrome
Congenital diaphragmatic hernia, Progeroid facial appearance, Pulmonary artery stenosis, Flexion ... OMIM:208050
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Prominent nasal bridge, Micrognathia, Broad nasal tip, Wide nasal bridge, Short nose OMIM:300749
Ring Chromosome 7 Syndrome
Mandibular prognathia, Anteverted nares, Prominent nasal bridge, Hypospadias, Situs inversus tota... ORPHA:1449
Ulnar-Mammary Syndrome
Hypoplasia of penis, Ventricular septal defect, Cryptorchidism, Absent hand, Renal hypoplasia, Ap... ORPHA:3138
Acro-Renal-Mandibular Syndrome
Abnormal lung lobation, Pulmonary hypoplasia, Congenital diaphragmatic hernia ORPHA:958
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Cyanosis OMIM:261680
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Dilated cardiomyopathy, Myocardial fibrosis, Transposition of the great arteries, Pulmonic stenos... OMIM:253800
Oculocerebrocutaneous Syndrome
Congenital diaphragmatic hernia ORPHA:1647
Phosphoribosylpyrophosphate Synthetase Superactivity
Renal insufficiency, Depressed nasal bridge, Hypospadias, Cryptorchidism, Urolithiasis, Hyperuric... OMIM:300661
Orofaciodigital Syndrome Type 4
Wide nose, Monorchism, Choanal atresia, Micromelia, Micrognathia, Renal hypoplasia/aplasia, Renal... ORPHA:2753
De Barsy Syndrome
Delayed eruption of teeth, Decreased fetal movement, Ventricular septal defect, Cryptorchidism, P... ORPHA:2962
Craniorachischisis
Congenital diaphragmatic hernia ORPHA:63260
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Mandibular prognathia, Ventricular septal defect, Broad nasal tip, Wide nasal bridge, Prominent n... OMIM:620330
Noonan Syndrome 1
Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Ventricular septal defect, Hy... OMIM:163950
Adams-Oliver Syndrome 1
Bicuspid aortic valve, Ventricular septal defect, Supernumerary nipple, Pulmonary artery stenosis... OMIM:100300
Molybdenum Cofactor Deficiency, Complementation Group A
Xanthine nephrolithiasis, Increased urinary sulfite level, Absent urinary urothione, Elevated uri... OMIM:252150
Lateral Meningocele Syndrome
Craniofacial hyperostosis, Ventricular septal defect, Micrognathia, Cryptorchidism, Malar flattening ORPHA:2789
Bardet-Biedl Syndrome 12
Hydronephrosis, Hydroureter, Hypogonadism, Cystic renal dysplasia OMIM:615989
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Duplicated collecting system, Hydronephrosis, Oligohydramnios OMIM:617093
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Delayed eruption of teeth, Ventricular septal defect, Abnormal dental enamel morphology, Supernum... ORPHA:1071
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Narrow nasal bridge, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Ca... OMIM:300967
Peroxisome Biogenesis Disorder 5A (Zellweger)
Ventricular septal defect, Palpebral edema, Hypospadias, Micrognathia, Cryptorchidism, Splenomega... OMIM:614866
Oculocerebrorenal Syndrome Of Lowe
Atelectasis, Recurrent respiratory infections ORPHA:534
Autosomal Recessive Spastic Paraplegia Type 20
Hydronephrosis, Abnormal nostril morphology, Dysuria, Prominent nose ORPHA:101000
Isolated Right Ventricular Hypoplasia
Hypoxemia, Cyanosis ORPHA:439
Aicardi-Goutieres Syndrome 1
Erythema, Prolonged neonatal jaundice, Acrocyanosis, Petechiae, Purpura OMIM:225750
Hyperimmunoglobulinemia D With Periodic Fever
Urticaria, Erythema, Acrocyanosis, Purpura ORPHA:343
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Exercise-induced rhabdomyolysis, Ventricular septal defect, Pericardial effusion, Dilated cardiom... ORPHA:26793
Relapsing Polychondritis
Atelectasis, Erythema, Purpura ORPHA:728
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Mandibular prognathia, Depressed nasal bridge, Anteverted nares, Rhizomelia, Bulbous nose, Neutro... OMIM:271510
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Anteverted nares, Choanal atresia, Ventricular septal defect, Micrognathia, Hypospadias, Cryptorc... OMIM:616975
Cousin Syndrome
Hypoplastic scapulae, Rhizomelia, Micrognathia, Mesomelia, Hydronephrosis, Fibular aplasia OMIM:260660
Sepsis In Premature Infants
Jaundice, Cyanosis, Petechiae, Purpura ORPHA:90051
Intellectual Developmental Disorder, Autosomal Dominant 45
Pulmonic stenosis OMIM:617600
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Ventricular septal defect, Cryptorchidism, Coarctation of aorta, Hypoplastic left heart, Tetralog... OMIM:618748
Meckel Syndrome 14
Pneumothorax, Cyanosis, Pulmonary hypoplasia OMIM:619879
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Adrenal cortical sclerosis, Diffuse mesangial sclerosis, Autoimmune hemolytic anemia, Severe B ly... OMIM:102700
Spinocerebellar Ataxia-Dysmorphism Syndrome
Short nose, Anteverted nares ORPHA:1185
Loeys-Dietz Syndrome 5
Ventricular septal defect, Prominent nasal bridge, Aortic root aneurysm, Ascending aortic dissect... OMIM:615582
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Mandibular prognathia, Bicuspid aortic valve, Urinary incontinence, Asplenia, Vesicoureteral refl... ORPHA:261552
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Congenital hypothyroidism, Short nose, Edema, Micrognathia OMIM:617527
Orofaciodigital Syndrome V
Unilateral cryptorchidism, Tetralogy of Fallot, Ventricular septal defect, Horseshoe kidney OMIM:174300
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Hydronephrosis ORPHA:488613
Deeah Syndrome
Decreased hemoglobin concentration, Decreased response to growth hormone stimulation test, Polyhy... OMIM:619004
Costello Syndrome
Renal insufficiency, Depressed nasal bridge, Anteverted nares, Ventricular septal defect, Polyhyd... OMIM:218040
Occipital Horn Syndrome
Short humerus, Convex nasal ridge, Hydronephrosis, Bladder diverticulum, Short clavicles, Uretera... OMIM:304150
Plaa-Associated Neurodevelopmental Disorder
Short nose, Edema of the dorsum of feet, Micrognathia, Edema of the dorsum of hands ORPHA:521426
Ayme-Gripp Syndrome
Mandibular prognathia, Pericarditis, Depressed nasal bridge, Wide nasal bridge, Malar flattening,... OMIM:601088
Acquired Purpura Fulminans
Acrocyanosis, Macular purpura ORPHA:49566
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Long nose, Malar flattening, Short nose, Depressed nasal bridge OMIM:618590
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Mandibular prognathia, Microretrognathia, Ventricular septal defect, Wide nasal ridge, Polyhydram... ORPHA:459070
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Reduced circulating growth hormone concentration, Multiple muscular ventricular septal defects, P... OMIM:615508
Esophageal Atresia
Ventricular septal defect, Choanal atresia, Polyhydramnios, Maternal diabetes, Renal agenesis, Co... ORPHA:1199
Mowat-Wilson Syndrome
Mandibular prognathia, Bicuspid aortic valve, Urinary incontinence, Asplenia, Vesicoureteral refl... ORPHA:2152
Aymé-Gripp Syndrome
Pericarditis, Depressed nasal bridge, Proteinuria, Pericardial effusion, Cryptorchidism, Patent d... ORPHA:1272
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Skeletal muscle atrophy, Recurrent respiratory infections, Ragged-red muscle fibers, Flexion cont... ORPHA:17
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Micromelia, Prominent nose, Micrognathia, Renal cyst, Atrial septal defect, Micropenis, Patent fo... OMIM:210710
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci... OMIM:242700
Ctcf-Related Neurodevelopmental Disorder
Anteverted nares, Broad nasal tip, Phimosis, Cryptorchidism, Patent ductus arteriosus, Coarctatio... ORPHA:363611
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent urinary tract infections, Sinusitis, Decreased proportion of naive T cells, Aplasia of ... ORPHA:83471
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Mandibular prognathia, Bicuspid aortic valve, Urinary incontinence, Asplenia, Vesicoureteral refl... ORPHA:261537
Distal Deletion 9P
Short nose, Hypospadias, Wide nasal bridge ORPHA:1642
Goodpasture Syndrome
Cyanosis, Nodular pattern on pulmonary HRCT, Ground-glass opacification, Pulmonary infiltrates, P... OMIM:233450
Visceral Myopathy 1
Polyhydramnios, Megacystis, Urinary retention, Vesicoureteral reflux, Hydronephrosis OMIM:155310
Oeis Complex
11 pairs of ribs, Absence of the sacrum, Duplicated collecting system, Hydroureter, Renal agenesi... OMIM:258040
Trichohepatoneurodevelopmental Syndrome
Decreased fetal movement, Ventricular septal defect, Premature birth, Polyhydramnios, Splenomegal... OMIM:618268
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cyanosis ORPHA:488627
Faciodigitogenital Syndrome, Autosomal Recessive
Anteverted nares, Prominent nasal bridge, Trismus, Cryptorchidism, Dental malocclusion, Short foo... OMIM:227330
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Duplicated collecting system, Ventricular septal defect, Polyhydramnios, Cryptorchidism, Pulmonic... OMIM:607721
Ulnar-Mammary Syndrome
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Aplasia of the 3rd metacarpal, Aplasi... OMIM:181450
Oculocerebral Hypopigmentation Syndrome, Cross Type
Ureteral stenosis, Depressed nasal bridge, Anteverted nares, Cryptorchidism, Abnormality of the u... ORPHA:2719
Monosomy 9Q22.3
Delayed eruption of teeth, Ovarian fibroma, Cardiac fibroma, Nephroblastoma, Short nose ORPHA:77301
Eisenmenger Syndrome
Renal insufficiency, Ventricular septal defect, Patent ductus arteriosus, Pedal edema, Aortopulmo... ORPHA:97214
Warburg Micro Syndrome 2
Cryptorchidism, Short nose, Prominent nasal bridge, Micropenis OMIM:614225
Otopalatodigital Syndrome, Type Ii
Short metacarpal, Depressed nasal bridge, Hypospadias, Short hallux, Micrognathia, Short thumb, C... OMIM:304120
Proximal 16P11.2 Microdeletion Syndrome
Congenital diaphragmatic hernia ORPHA:261197
Focal Dermal Hypoplasia
Ureteral duplication, Cleft ala nasi, Short metatarsal, Foot oligodactyly, Short metacarpal, Cryp... OMIM:305600
Loeys-Dietz Syndrome 3
Tortuous cerebral arteries, Bicuspid aortic valve, Atrial septal defect, Abdominal aortic aneurys... OMIM:613795
Chromosome 13Q14 Deletion Syndrome
Ventricular septal defect, Supernumerary nipple, Micrognathia, Cryptorchidism, Bulbous nose, Micr... OMIM:613884
2Q31.1 Microdeletion Syndrome
Ventricular septal defect, Micrognathia, Cryptorchidism, Bulbous nose, Short foot, Short palm, At... ORPHA:251014
Autosomal Dominant Robinow Syndrome
Abnormal penis morphology, Wide nose, Hypoplasia of penis, Depressed nasal bridge, Anteverted nar... ORPHA:3107
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Underdeveloped nasal alae, Hypoplasia of the maxilla, Wide nasal bridge, Aplasia/Hypoplasia of th... ORPHA:306542
Osteogenesis Imperfecta, Type Vii
Rhizomelia, Micromelia, Hypoplastic pulmonary veins, Breech presentation, Absent pulmonary artery... OMIM:610682
2Q37 Microdeletion Syndrome
Congenital diaphragmatic hernia ORPHA:1001
3Q29 Microduplication Syndrome
Ventricular septal defect, Wide nasal bridge ORPHA:251038
Aneurysm-Osteoarthritis Syndrome
Arterial dissection, Arterial tortuosity, Abnormal bladder morphology, Patent ductus arteriosus, ... ORPHA:284984
Sotos Syndrome
Ureteral duplication, No permanent dentition, Pedal edema, Vesicoureteral reflux, Atrial septal d... ORPHA:821
Pitt-Hopkins-Like Syndrome 2
Pulmonic stenosis OMIM:614325
Halperin-Birk Syndrome
Flexion contracture, Congenital diaphragmatic hernia OMIM:618651
Sponastrime Dysplasia
Mandibular prognathia, Obtuse angle of mandible, Wide nose, Aplasia of the nasal bone, Anteverted... ORPHA:93357
Microphthalmia, Syndromic 3
Ventricular septal defect, Anterior pituitary hypoplasia, Hypogonadotropic hypogonadism, Missing ... OMIM:206900
Neurofibromatosis-Noonan Syndrome
Depressed nasal bridge, Secundum atrial septal defect, Cryptorchidism, Prominent nasolabial fold,... OMIM:601321
Adenylosuccinase Deficiency
Short nose, Anteverted nares OMIM:103050
Roberts-Sc Phocomelia Syndrome
Polyhydramnios, Micrognathia, Tetraphocomelia, Atrial septal defect, Phocomelia, Hyperplasia of t... OMIM:268300
Myhre Syndrome
Mandibular prognathia, Ventricular septal defect, Prominent nasal bridge, Pericardial effusion, H... OMIM:139210
Jaberi-Elahi Syndrome
Short nose, Depressed nasal bridge OMIM:617988
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Hip contracture, Ventricular septal defect, Elbow contracture, Elbow flexion contracture, Knee fl... OMIM:178110
Monosomy 9P
Ureteropelvic junction obstruction, Depressed nasal bridge, Anteverted nares, Choanal atresia, Mi... ORPHA:261112
Knobloch Syndrome 1
Duplicated collecting system, Depressed nasal bridge, Patent ductus arteriosus, Bulbous nose, Bif... OMIM:267750
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Narrow nasal bridge, Ventricular septal defect, Prominent nasal bridge, Anterior pituitary hypopl... ORPHA:466791
Chand Syndrome
Atelectasis ORPHA:1401
Wiedemann-Steiner Syndrome
Aplasia/Hypoplasia of the ribs, Rhizomelia, Decreased response to growth hormone stimulation test... ORPHA:319182
C Syndrome
Multicystic kidney dysplasia, Depressed nasal bridge, Anteverted nares, Polyhydramnios, Micrognat... ORPHA:1308
Molybdenum Cofactor Deficiency, Complementation Group B
Xanthine nephrolithiasis, Increased urinary sulfite level, Xanthinuria, Increased urinary taurine... OMIM:252160
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Renal malrotation, Multicystic kidney dysplasia, Transient neutropenia, Ventricular septal defect... ORPHA:500095
Witteveen-Kolk Syndrome
Decreased response to growth hormone stimulation test, Polyhydramnios, Intracranial hemorrhage, M... OMIM:613406
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Mandibular prognathia, Polyhydramnios, Micrognathia, Hypoplasia of the maxilla, Abnormal aortic a... ORPHA:96334
Cerebrofaciothoracic Dysplasia
Wide nose, Polyhydramnios, Short nose ORPHA:1394
Cerebrocostomandibular Syndrome
Multicystic kidney dysplasia, Ventricular septal defect, Micrognathia ORPHA:1393
Carpenter Syndrome 2
Depressed nasal bridge, Anteverted nares, Dextrocardia, Supernumerary nipple, Situs inversus tota... OMIM:614976
Mowat-Wilson Syndrome
Delayed eruption of teeth, Ventricular septal defect, Pulmonary artery sling, Supernumerary nippl... OMIM:235730
Spondylocarpotarsal Synostosis Syndrome
Short metacarpal, Anteverted nares, Broad nasal tip, Hypoplasia of the odontoid process, Renal cy... OMIM:272460
Orofaciodigital Syndrome Xiv
Microretrognathia, Natal tooth, Ventricular septal defect, Micrognathia, Cryptorchidism, Supernum... OMIM:615948
Larsen Syndrome
Short metacarpal, Ventricular septal defect, Depressed nasal bridge, Cryptorchidism, Short metata... OMIM:150250
Leigh Syndrome
Ventricular septal defect, Lacticaciduria, Methylmalonic aciduria, Generalized aminoaciduria, Ren... ORPHA:506
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Absent gallbladder, Depressed nasal bridge, Transient ischemic attack, Unilateral renal agenesis,... ORPHA:500150
White-Sutton Syndrome
Facial hypotonia, Congenital diaphragmatic hernia OMIM:616364
Trichothiodystrophy 1, Photosensitive
Short nose, Retrognathia, Hypogonadism OMIM:601675
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Ventricular septal defect, Depressed nasal bridge, Renal tubular acidosis, Caesarian section, Per... OMIM:619575
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Atrial septal defect, Prominent nasal tip, Short nose ORPHA:522077
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Ventricular septal defect, Hypospadias, Chordee, Atrial septal defect, Micropen... OMIM:309801
Trichothiodystrophy
Ventricular septal defect, Abnormality of prenatal development or birth, Carious teeth, Hypoplasi... ORPHA:33364
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Nuchal cord, Anteverted nares, Bicuspid aortic valve, Ventricular septal defect, Palpebral edema,... OMIM:619475
Stickler Syndrome
Anteverted nares, Depressed nasal bridge, Abnormal dental enamel morphology, Micrognathia, Hypopl... ORPHA:828
Nicolaides-Baraitser Syndrome
Narrow nasal bridge, Short metacarpal, Anteverted nares, Cryptorchidism, Bulbous nose, Short meta... OMIM:601358
Holoprosencephaly 7
Hypoplasia of the premaxilla, Flat nasal alae, Absent nasal septal cartilage, Wide nasal bridge, ... OMIM:610828
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Absent nipple, Depressed nasal bridge, Underdeveloped nasal alae, Hypoplasia of the maxilla, Apla... OMIM:305100
Early Infantile Epileptic Encephalopathy
Ventricular septal defect, Depressed nasal bridge, Anteverted nares, Precocious puberty, Short fi... ORPHA:1934
Denys-Drash Syndrome
Posterolateral diaphragmatic hernia, Congenital diaphragmatic hernia OMIM:194080
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development
Depressed nasal bridge, Cryptorchidism, Malar flattening, Short nose, Breast hypoplasia OMIM:601353
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Depressed nasal bridge, Anteverted nares, Ventricular septal defect, Micrognathia, Pineal cyst, R... ORPHA:513456
Cutis Laxa, Autosomal Dominant 1
Ventricular septal defect, Convex nasal ridge, Peripheral pulmonary artery stenosis OMIM:123700
Autosomal Recessive Faciodigitogenital Syndrome
Anteverted nares, Prominent nasal bridge, Micrognathia, Short foot, Short nose ORPHA:1974
Acromesomelic Dysplasia 1
Short metacarpal, Short toe, Hypoplasia of the radius, Short metatarsal, Acromesomelia, Short nose OMIM:602875
Pagod Syndrome
Pulmonary artery hypoplasia, Abnormality of the pulmonary artery, Pulmonary hypoplasia, Congenita... ORPHA:991
Chromosome 1P36 Deletion Syndrome, Distal
Bicuspid aortic valve, Ectopic kidney, Depressed nasal ridge, Atrial septal defect, Hypothyroidis... OMIM:607872
1P21.3 Microdeletion Syndrome
Short nose, Micrognathia, Broad nasal tip ORPHA:293948
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Depressed nasal bridge, Hypospadias, Micrognathia, Broad nasal tip, Cryptorchidism, Bulbous nose,... OMIM:309590
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Ventricular hypertrophy, Hypoplasia of the ulna, Short metacarpal, Delayed eruption of teeth, Ven... OMIM:143095
Atrial Septal Defect, Coronary Sinus Type
Cyanosis, Pneumonia, Anomalous pulmonary venous return ORPHA:99104
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary artery dilatation, Emphysema, Pulmonary artery aneurysm, Congenital diaphragmatic hernia OMIM:614437
White-Sutton Syndrome
Facial hypotonia, Congenital diaphragmatic hernia ORPHA:468678
Peroxisome Biogenesis Disorder 4B
Short nose, Adrenal insufficiency, Ureterocele OMIM:614863
Genitourinary And/Or Brain Malformation Syndrome
Aplasia of the nasal bone, Streak ovary, Hypospadias, Micrognathia, Cryptorchidism, Micropenis, C... OMIM:618820
Frontofacionasal Dysplasia
Underdeveloped nasal alae, Bifid nose, Midline defect of the nose, Malar flattening, Short nose, ... OMIM:229400
Orofaciodigital Syndrome Type 14
Microretrognathia, Ventricular septal defect, Bilateral cryptorchidism, Epispadias, Bulbous nose,... ORPHA:434179
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
11 pairs of ribs, Multicystic kidney dysplasia, Hydronephrosis, Hydromyelia, Micropenis, Decrease... OMIM:615287
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Ventricular septal defect, Proteinuria, Cerebral hemorrhage, Precocious puberty, Cryptorchidism, ... OMIM:616682
Histiocytoid Cardiomyopathy
Ventricular septal defect, Cardiomegaly, Renal cyst, Polycystic ovaries, Stroke-like episode, Pul... ORPHA:137675
Familial Dysautonomia
Recurrent respiratory infections, Acrocyanosis, Abnormal pleura morphology ORPHA:1764
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Short metacarpal, Depressed nasal bridge, Micromelia, Micrognathia, Hypoplasia of the odontoid pr... OMIM:271665
Combined Oxidative Phosphorylation Deficiency 15
Ventricular septal defect, Ventricular septal hypertrophy, Small hand OMIM:614947
Proteus Syndrome
Thymus hyperplasia, Depressed nasal bridge, Anteverted nares, Abnormal dental enamel morphology, ... ORPHA:744
Townes-Brocks Syndrome 1
Multicystic kidney dysplasia, Renal insufficiency, Ventricular septal defect, Choanal atresia, Hy... OMIM:107480
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Left ventricular hypertrophy, Elbow flexion contracture, Congenital diaphragmatic hernia OMIM:245600
Cerebrooculonasal Syndrome
Anteverted nares, Prominent nasal bridge, Proboscis, Malar flattening, Short nose OMIM:605627
Tetraamelia Syndrome 1
Peripheral pulmonary vessel aplasia, Pulmonary hypoplasia, Congenital diaphragmatic hernia OMIM:273395
Watson Syndrome
Pulmonic stenosis OMIM:193520
Pallister-Killian Syndrome
Edema of the dorsum of feet, Polyhydramnios, Micrognathia, Renal cyst, Premature rupture of membr... OMIM:601803
Intellectual Developmental Disorder, Autosomal Dominant 42
Hydronephrosis, Ureteropelvic junction obstruction, Neurogenic bladder, Congenital hypothyroidism OMIM:616973
Legius Syndrome
Acute monocytic leukemia, Nephrolithiasis, Ovarian neoplasm, Mitral valve prolapse, Male urethral... ORPHA:137605
Poems Syndrome
Pleural effusion, Acrocyanosis ORPHA:2905
Aicardi-Goutières Syndrome
Myositis, Multiple joint contractures, Cutis marmorata, Prolonged neonatal jaundice, Acrocyanosis ORPHA:51
Acrorenal-Mandibular Syndrome
Elbow flexion contracture, Pulmonary hypoplasia, Congenital diaphragmatic hernia OMIM:200980
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Recurrent infections due to aspiration, Acrocyanosis OMIM:223900
Brittle Cornea Syndrome
Pulmonic stenosis, Mitral valve prolapse ORPHA:90354
Wolf-Hirschhorn Syndrome
Accessory spleen, Decreased fetal movement, Ventricular septal defect, Hypospadias, Short hallux,... OMIM:194190
17Q11 Microdeletion Syndrome
Depressed nasal bridge, Abnormal internal carotid artery morphology, Precocious puberty, Renovasc... ORPHA:97685
Craniofrontonasal Syndrome
Congenital diaphragmatic hernia OMIM:304110
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Cyanosis, Nail bed telangiectasia, Pulmonary arteriovenous malformat... OMIM:600376
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
11 pairs of ribs, Short metacarpal, Ventricular septal defect, Bicuspid aortic valve, Micrognathi... OMIM:271640
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Cyanosis, Telangiectasia of the skin, Nail bed telangiectasia, Pulmo... OMIM:187300
Craniotubular Dysplasia, Ikegawa Type
Ventricular septal defect, Anteverted nares, Wide nasal bridge, Short palm OMIM:619727
Menke-Hennekam Syndrome 1
Narrow nasal bridge, Anteverted nares, Depressed nasal bridge, Underdeveloped nasal alae, Microgn... OMIM:618332
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Cyanosis, Pulmonary arteriovenous malformation, Lip telangiectasia, ... OMIM:610655
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Breech presentation, Ventricular septal defect OMIM:614653
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Recurrent lower respiratory tract infections, Cyanosis OMIM:618426
Craniofacial Microsomia 1
Multicystic kidney dysplasia, Ventricular septal defect, Renal agenesis, Micrognathia, Hypoplasia... OMIM:164210
Coffin-Lowry Syndrome
Mandibular prognathia, Wide nose, Short metacarpal, Anteverted nares, Dental malocclusion, Thick ... OMIM:303600
Atrial Septal Defect, Ostium Secundum Type
Cyanosis, Pneumonia ORPHA:99103
Split Cord Malformation
Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphincter dyssynergia, Functional... ORPHA:573278
Unilateral Polymicrogyria
Cyanosis, Pulmonary arteriovenous malformation ORPHA:268943
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Decreased testicular size, Leukocytosis, Renal hypoplasia, Micropenis, Hypoplasia of the ovary, S... OMIM:619321
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Hydroureter, Abnormal dental enamel morphology, Choanal atresia, Abnormality of the upper urinary... ORPHA:2273
Aspartylglucosaminuria
Mandibular prognathia, Aspartylglucosaminuria, Carious teeth, Splenomegaly, Wide nasal bridge, Ma... ORPHA:93
Iniencephaly
Arthrogryposis multiplex congenita, Congenital diaphragmatic hernia ORPHA:63259
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Recurrent lower respiratory tract infections, Cyanosis, Recurrent upper respiratory tract infections ORPHA:293987
Postinfectious Vasculitis
Palpable purpura, Cutis marmorata, Pneumonia, Vasculitis in the skin, Acrocyanosis, Recurrent str... ORPHA:48435
Lipodystrophy, Familial Partial, Type 7
Polyuria, Pulmonary arteriovenous malformation, Narrow nasal ridge, Type I diabetes mellitus, Ple... OMIM:606721
Mullegama-Klein-Martinez Syndrome
Facial palsy, Congenital diaphragmatic hernia OMIM:301022
Wolf-Hirschhorn Syndrome
Aplasia/Hypoplasia of the lungs, Recurrent respiratory infections, Congenital diaphragmatic hernia ORPHA:280
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Congenital diaphragmatic hernia OMIM:617641
Pitt-Hopkins Syndrome
Acrocyanosis ORPHA:2896
Hutchinson-Gilford Progeria Syndrome
Premature skin wrinkling, Prominent superficial blood vessels, Generalized abnormality of skin, C... ORPHA:740
Hyperoxaluria, Primary, Type I
Acrocyanosis, Cutis marmorata OMIM:259900
Hypermobile Ehlers-Danlos Syndrome
Aplasia/Hypoplasia of the abdominal wall musculature, Acrocyanosis, Tendon rupture ORPHA:285
Microphthalmia With Linear Skin Defects Syndrome
Erythema, Congenital diaphragmatic hernia ORPHA:2556
Primary Hyperoxaluria
Acrocyanosis, Cutis marmorata ORPHA:416
Poland Syndrome
Aplasia of the pectoralis major muscle, Congenital diaphragmatic hernia ORPHA:2911
Classical Ehlers-Danlos Syndrome
Prematurely aged appearance, Poor wound healing, Ecchymosis, Acrocyanosis, Fragile skin, Bruising... ORPHA:287
Beckwith-Wiedemann Syndrome
Diastasis recti, Rhabdomyosarcoma, Congenital diaphragmatic hernia, Leiomyosarcoma, Macroglossia ORPHA:116
Osteoporosis-Pseudoglioma Syndrome
Ventricular septal defect OMIM:259770

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Dock1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Dock1.

There are 6 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Dock10 Regulates Cardiac Function under Neurohormonal Stress. International journal of molecular sciences (August 2022) Dock10tm1c(EUCOMM)Hmgu Dock10tm1a(EUCOMM)Hmgu PMC9455810
The role of DOCK10 in the regulation of the transcriptome and aging. Heliyon (March 2019) Dock10tm1a(EUCOMM)Hmgu/Ieg PMC6434181
Involvement of Zizimin2/3 in the age-related defect of peritoneal B-1a cells as a source of anti-bacterial IgM. International immunology (November 2017) Dock10tm1a(EUCOMM)Hmgu 29099971
Deletion of Dock10 in B Cells Results in Normal Development but a Mild Deficiency upon In Vivo and In Vitro Stimulations. Frontiers in immunology (May 2017) Dock10tm1c(EUCOMM)Hmgu Dock10tm1a(EUCOMM)Hmgu PMC5410582
Dock10 regulates CD23 expression and sustains B-cell lymphopoiesis in secondary lymphoid tissue. Immunobiology (August 2016) Dock10tm1a(EUCOMM)Hmgu 27502165
The immunosenescence-related gene Zizimin2 is associated with early bone marrow B cell development and marginal zone B cell formation. Immunity & ageing : I & A (February 2015) Dock10tm1a(EUCOMM)Hmgu PMC4343071

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MGI Allele Allele Type Produced
Dock1em1(IMPC)Ccpcz Exon Deletion Mice
Dock1tm269981(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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