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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
Abnormal renal tubule morphology, Hydrops fetalis, Multicystic kidney dysplasia, Renal insufficie... ORPHA:1909
Fallot Complex With Severe Mental And Growth Retardation
Pulmonic stenosis, Double outlet right ventricle, Ventricular septal defect, Tetralogy of Fallot OMIM:601127
14Q24.1Q24.3 Microdeletion Syndrome
Short nose, Ectopic kidney, Truncus arteriosus, Pulmonary artery atresia, Cryptorchidism, Abnorma... ORPHA:401935
Congenital Alveolar Capillary Dysplasia
Pulmonary valve atresia, Single umbilical artery, Atrioventricular canal defect, Annular pancreas... ORPHA:210122
Myopathy, Distal, With Rimmed Vacuoles
Internally nucleated skeletal muscle fibers, Rimmed vacuoles, Facial palsy, Scapular winging, EMG... OMIM:617158
Genitopalatocardiac Syndrome
Transposition of the great arteries, Hypospadias, Right aortic arch, Renal cyst, Micrognathia, Do... OMIM:231060
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Distal amyotrophy,... OMIM:618655
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Unilateral renal agenesis, Truncus arteriosus, Short distal phalanx of finger, Ventricular septal... OMIM:601355
Gne Myopathy
Hip flexor weakness, Muscle fiber inclusion bodies, Lower limb amyotrophy, Rimmed vacuoles, Abnor... ORPHA:602
Polyglucosan Body Myopathy 2
Peroneal muscle weakness, Muscle fiber inclusion bodies, Muscle fiber polyglucosan inclusion bodi... OMIM:616199
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Calf muscle hypertrophy, Muscle fiber necrosis, Increased variability in muscle fiber diameter, F... OMIM:618848
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Renal hypoplasia/aplasia, Truncus arteriosus, Abnormal aortic morphology, Renal agenesis, Microgn... ORPHA:2516
Congenital Heart Defects, Multiple Types, 5
Aortic valve stenosis, Tetralogy of Fallot, Bicuspid aortic valve, Atrial septal defect, Ventricu... OMIM:617912
8P23.1 Duplication Syndrome
Wide nose, Pulmonic stenosis, Hydronephrosis, Tetralogy of Fallot, Ventricular septal defect, Adr... ORPHA:251076
Conotruncal Heart Malformations
Transposition of the great arteries, Truncus arteriosus, Coarctation of aorta, Double outlet righ... OMIM:217095
Fetal Parvovirus Syndrome
Hydrops fetalis, Anemia, Ascites, Hypertrophic cardiomyopathy, Increased nuchal translucency, Thr... ORPHA:295
Ventricular Septal Defect 1
Atrioventricular canal defect, Pulmonic stenosis, Tetralogy of Fallot, Atrial septal defect, Vent... OMIM:614429
Cayler Cardiofacial Syndrome
Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus OMIM:125520
Ritscher-Schinzel Syndrome 1
Single umbilical artery, Decreased response to growth hormone stimulation test, Hypospadias, Adre... OMIM:220210
Cranioacrofacial Syndrome
Pulmonic stenosis, Dupuytren contracture, Ventricular septal defect OMIM:122850
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Distal lower ... ORPHA:254361
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Polyhydramnios, Hydrops fetalis, Fetal pericardial effusion, Fetal pleural effusion, Splenomegaly... OMIM:619462
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Proximal upper limb amyotrophy, Muscular dystrophy, Proximal muscle weakness in upper limbs, Dist... OMIM:601954
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Hydrops fetalis, Polyhydramnios, Upper limb undergrowth, Anteverted nares, Adrenal hypoplasia, No... OMIM:613124
Hereditary Myopathy With Early Respiratory Failure
Muscle fiber splitting, Internally nucleated skeletal muscle fibers, Necrotizing myopathy, Calf m... ORPHA:178464
Stankiewicz-Isidor Syndrome
Retrognathia, Ureteral duplication, Hypospadias, Truncus arteriosus, Cryptorchidism, Micrognathia... OMIM:617516
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Retrognathia, Dilatation of the bladder, Nonimmune hydrops fetalis, Dysplastic tricuspid valve, B... OMIM:265380
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Single umbilical artery, Polyhydramnios, Abnormal tricuspid valve morphology, Hydrops fetalis, An... ORPHA:3405
Transaldolase Deficiency
Abnormality of the kidney, Hydrops fetalis, Anemia, Coarctation of aorta, Hepatosplenomegaly, Thr... ORPHA:101028
Chromosome 22Q11.2 Deletion Syndrome, Distal
Truncus arteriosus, Malar flattening, Underdeveloped nasal alae OMIM:611867
Congenital Heart Defects, Multiple Types, 6
Transposition of the great arteries, Hypoplastic pulmonary veins, Right aortic arch, Pulmonary ar... OMIM:613854
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Hydrops fetalis, Lymphedema, Vascular ring, Broad nasal tip, Patent ductus arteriosus, Overriding... OMIM:601927
Verheij Syndrome
Retrognathia, Short nose, Anteverted nares, Truncus arteriosus, Renal cyst, Renal agenesis, Renal... OMIM:615583
Cleft-Limb-Heart Malformation Syndrome
Truncus arteriosus OMIM:215850
Inclusion Body Myositis
Inflammatory myopathy, Ragged-red muscle fibers, Rimmed vacuoles, Skeletal muscle atrophy, Abnorm... ORPHA:611
Congenital Heart Defects, Multiple Types, 9
Arteria lusoria, Transposition of the great arteries, Single ventricle of indeterminate morpholog... OMIM:620294
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Unilateral renal agenesis, Anomalous origin of left coronary artery from the pulmonary artery, Bi... OMIM:618845
Robinow Syndrome
Mesomelic arm shortening, Pulmonic stenosis, Abnormal heart morphology, Mesomelia, Short distal p... ORPHA:97360
Ring Chromosome 8 Syndrome
Short nose, Polyhydramnios, Anteverted nares, Abnormality of the ureter, Hydronephrosis ORPHA:1450
Microphthalmia, Syndromic 9
Multilobulated spleen, Right aortic arch with mirror image branching, Pulmonic stenosis, Renal ma... OMIM:601186
Spinal Muscular Atrophy, Type Iv
Calf muscle hypertrophy, Rimmed vacuoles, Spinal muscular atrophy, Muscle fiber necrosis, Increas... OMIM:271150
Myopathy, Sarcoplasmic Body
Sarcoplasmic bodies, Weakness of the intrinsic hand muscles, Increased variability in muscle fibe... OMIM:620286
Fetal Minoxidil Syndrome
Micrognathia, Ventricular septal defect, Depressed nasal bridge, Cryptorchidism ORPHA:1918
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 9
Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Lower limb amyotrophy... OMIM:620402
Chondrodysplasia, Blomstrand Type
Hydrops fetalis, Polyhydramnios, Short ribs, Micromelia, Preductal coarctation of the aorta, Micr... OMIM:215045
Myopathy, Distal, 5
Muscle fiber splitting, Distal lower limb muscle weakness, Distal amyotrophy, Rimmed vacuoles, We... OMIM:617030
Double Outlet Left Ventricle
Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Bicuspid pulmonary valv... ORPHA:3427
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Hip flexor weakness, Facial hypotonia, Autophagic vacuoles, EMG: myopathic abnormalities, Increas... ORPHA:266
Recombinant Chromosome 8 Syndrome
Anteverted nares, Cryptorchidism, Pulmonic stenosis, Micrognathia, Hydronephrosis, Tetralogy of F... OMIM:179613
Adams-Oliver Syndrome 6
Truncus arteriosus, Renal hypoplasia, Foot oligodactyly, Splenomegaly, Ventricular septal defect OMIM:616589
Megabladder, Congenital
Atrial septal defect, Multiple glomerular cysts, Fetal megacystis, Left ventricular noncompaction... OMIM:618719
Oculopharyngodistal Myopathy 2
Rimmed vacuoles, EMG: myopathic abnormalities, Increased variability in muscle fiber diameter, We... OMIM:618940
Emanuel Syndrome
Pulmonic stenosis, Aortic valve stenosis, Recurrent sinusitis, Premature birth, Decreased fetal m... OMIM:609029
Congenital Disorder Of Glycosylation, Type Ik
Cardiomyopathy, Abnormality of the amniotic fluid, Micrognathia, Nonimmune hydrops fetalis, Splen... OMIM:608540
Double Outlet Right Ventricle
Hypoparathyroidism, Truncus arteriosus, Pulmonary artery atresia, Aplasia/Hypoplasia of the thymu... ORPHA:3426
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Muscle fiber inclusion bodies, Rimmed vacuoles, Increased variability in muscle fiber diameter, C... OMIM:615424
Inclusion Body Myopathy And Brain White Matter Abnormalities
Proximal muscle weakness in upper limbs, Rimmed vacuoles, Scapular winging, Increased variability... OMIM:619733
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal upper limb amyotrophy, Pelvic girdle muscle weakness, Rimmed vacuoles, Flexion limitatio... OMIM:609115
Hydrops Fetalis
Abnormality of the kidney, Polyhydramnios, Abnormality of the lymphatic system, Lymphedema, Pleur... ORPHA:1041
Spinal Muscular Atrophy, Infantile, James Type
Distal amyotrophy, Increased variability in muscle fiber diameter, Hip contracture, Type 1 muscle... OMIM:619042
Mulibrey Nanism
Hydrops fetalis, Cardiomegaly, Wide nose, Absent frontal sinuses, Ascites, Hypoplastic frontal si... OMIM:253250
Tibial Muscular Dystrophy
Rimmed vacuoles, EMG: myopathic abnormalities, Increased variability in muscle fiber diameter, Ce... ORPHA:609
Cardiac Valvular Dysplasia 1
Left atrial enlargement, Pulmonic stenosis, Mitral valve prolapse, Edema, Hypoplasia of right ven... OMIM:212093
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Single umbilical artery, Short nose, Hydrops fetalis, Polyhydramnios, Hypospadias, Anteverted nar... OMIM:616897
Nemaline Myopathy 9
Polyhydramnios, Breech presentation, Micrognathia, Ventricular septal defect, Fetal akinesia sequ... OMIM:615731
Chime Syndrome
Acute leukemia, Abnormality of the kidney, Pulmonary valve atresia, Transposition of the great ar... ORPHA:3474
Myopathy, Distal, 7, Adult-Onset, X-Linked
Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Rimmed vacuoles, Scap... OMIM:301075
Congenital Heart Defects, Multiple Types, 4
Atrioventricular canal defect, Aortic valve stenosis, Coarctation of aorta, Tetralogy of Fallot, ... OMIM:615779
Tubular Aggregate Myopathy
Muscle fiber tubular inclusions, EMG: myopathic abnormalities, Increased variability in muscle fi... ORPHA:2593
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Ankle flexion contracture, Calf muscle hypertrophy, Scapular winging, EMG: myopathic abnormalitie... OMIM:608099
Myopathy, Myofibrillar, 3
Muscle fiber splitting, Distal amyotrophy, Muscle fiber cytoplasmatic inclusion bodies, Myofibril... OMIM:609200
Acitretin/Etretinate Embryopathy
Atrioventricular canal defect, Aplasia/hypoplasia involving bones of the upper limbs, Hypoplastic... ORPHA:40366
Lethal Congenital Contracture Syndrome 2
Polyhydramnios, Micrognathia, Hydronephrosis, Decreased fetal movement, Edema, Dilated cardiomyop... OMIM:607598
Sonoda Syndrome
Ventricular septal defect, Depressed nasal bridge OMIM:270460
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Muscular dystrophy, Calf muscle pseudohypertrophy, Facial palsy, EMG: myopathic abnormalities, In... OMIM:254110
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Transposition of the great arteries, Dextrocardia, Right aortic ar... OMIM:613751
Truncus Arteriosus
Adrenocortical abnormality, Pulmonic stenosis, Abnormal heart morphology, Cardiomegaly, Transposi... ORPHA:3384
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Lower limb amyotrophy, Calf muscle hypertrophy, Wrist flexion contracture, Upper limb amyotrophy,... ORPHA:206549
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Muscle fiber splitting, Ankle flexion contracture, Calf muscle hypertrophy, Rimmed vacuoles, Incr... OMIM:617760
Diffuse Neonatal Hemangiomatosis
Polyhydramnios, Renal hypoplasia/aplasia, Hydrops fetalis, Anemia, Ascites, Premature birth, Thro... ORPHA:2123
Renal-Hepatic-Pancreatic Dysplasia 2
Situs inversus totalis, Enlarged kidney, Truncus arteriosus, Hypertrophic cardiomyopathy, Aspleni... OMIM:615415
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Wrist flexion contracture, Nemaline bodies, Limb-girdle muscle weakness, Increased variability in... OMIM:620386
22Q11.2 Duplication Syndrome
Transposition of the great arteries, Wide nose, Interrupted aortic arch, Depressed nasal ridge, M... ORPHA:1727
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hydrops fetalis, Hypospadias, Fetal akinesia sequence, Hypertrophic cardiomyopathy, Dilated cardi... OMIM:618815
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia OMIM:618254
Infantile Sialic Acid Storage Disease
Hydrops fetalis, Anteverted nares, Vacuolated lymphocytes, Ascites, Nephrotic syndrome, Premature... OMIM:269920
Cardiomyopathy, Familial Restrictive, 6
Pulmonic stenosis, Hydrops fetalis, Restrictive cardiomyopathy, Ascites OMIM:619433
Burn-Mckeown Syndrome
Short nose, Bilateral choanal atresia, Prominent nasal bridge, Wide nasal bridge, Abnormal cardia... ORPHA:1200
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Rimmed vacuoles, Skeletal muscle fibrosis, Myofibrillar myopathy, Increased variability in muscle... ORPHA:34516
Epidermolysis Bullosa With Diaphragmatic Hernia
Congenital diaphragmatic hernia OMIM:226735
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Interrupted aortic arch, Right aortic arch, Truncus arteriosus, Renal cyst, Ge... OMIM:617478
Congenital Pulmonary Lymphangiectasia
Hydrops fetalis, Chylopericardium, Pleural effusion, Ascites, Pulmonic stenosis, Splenomegaly ORPHA:2414
Myopathy, Distal, Tateyama Type
Calf muscle hypertrophy, Hand muscle weakness, Increased variability in muscle fiber diameter, Ce... OMIM:614321
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia
Ankle flexion contracture, Central core regions in muscle fibers, Nemaline bodies, Increased vari... OMIM:117000
Phenobarbital Embryopathy
Aplasia/Hypoplasia of fingers, Hypospadias, Mandibular prognathia, Abnormal nasal base norphology... ORPHA:1919
Aortic Valve Disease 1
Ventricular septal defect, Aortic valve stenosis, Mitral stenosis, Tetralogy of Fallot, Aortic va... OMIM:109730
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Muscular dystrophy, EMG: myopathic abnormalities, Increased variability in muscle fiber diameter,... OMIM:608807
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Muscle fiber splitting, Muscular dystrophy, EMG: myopathic abnormalities, Increased variability i... OMIM:253601
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Hypoplastic nasal tip, Pulmonic stenosis, Micrognathia, Tetralogy of Fallot, Patent ductus arteri... ORPHA:3304
Tricuspid Atresia
Hypoplasia of right ventricle, Transposition of the great arteries, Tricuspid atresia, Patent for... ORPHA:1209
Bardet-Biedl Syndrome 19
Hyposmia, Partial atrioventricular canal defect, Renal hypoplasia, Hydronephrosis, Hypogonadism, ... OMIM:615996
Rhabdomyolysis, Susceptibility To, 1
Increased variability in muscle fiber diameter, Type 2 muscle fiber predominance, Rhabdomyolysis,... OMIM:620235
Hydrops Fetalis, Nonimmune
Hydrops fetalis, Nonimmune hydrops fetalis, Anemia OMIM:236750
Distal Deletion 19P
Hypoplasia of the maxilla, Pulmonary valve atresia, Tricuspid valve prolapse, Ventricular septal ... ORPHA:96129
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Muscle fiber splitting, Scapular winging, Increased variability in muscle fiber diameter, Central... OMIM:618129
Emanuel Syndrome
Decreased fetal movement, Single umbilical artery, Breech presentation, Unilateral renal agenesis... ORPHA:96170
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Hypoplasia of the ulna, Single umbilical artery, Polyhydramnios, Hypoplasia of penis, Aplasia of ... ORPHA:2256
Achondrogenesis
Short nose, Polyhydramnios, Hydrops fetalis, Anteverted nares, Thickened nuchal skin fold, Microm... ORPHA:932
Perching Syndrome
Joint contracture, Camptodactyly, Cyanosis OMIM:617055
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Hydrops fetalis, Polyhydramnios, Limb undergrowth, Splenomegaly, Abnormality of the urinary system ORPHA:2204
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Pulmonic stenosis, Hydronephrosis, Hydroureter OMIM:264140
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Muscular dystrophy, Torticollis, Increased variability in muscle fiber diameter, Skeletal muscle ... OMIM:613204
Bronchopulmonary Dysplasia
Emphysema, Atelectasis, Pulmonary sequestration, Abnormal lung morphology, Right ventricular hype... ORPHA:70589
Fetal Trimethadione Syndrome
Short nose, Transposition of the great arteries, Hypospadias, Micrognathia, Tetralogy of Fallot, ... ORPHA:1913
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Hydronephrosis, Duplicated collecting system OMIM:163850
14Q11.2 Microdeletion Syndrome
Short nose, Micrognathia, Patent ductus arteriosus, Ventricular septal defect, Depressed nasal br... ORPHA:261120
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect OMIM:178370
Van Esch-O'Driscoll Syndrome
Pulmonary valve atresia, Retrognathia, Short nose, Pulmonary artery stenosis, Short middle phalan... OMIM:301030
Scimitar Syndrome
Mitral atresia, Abnormal heart morphology, Interrupted inferior vena cava with azygous continuati... ORPHA:185
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter OMIM:302045
Myopathy, Scapulohumeroperoneal
Scapular winging, Facial palsy, Nemaline bodies, Increased variability in muscle fiber diameter, ... OMIM:616852
Hereditary Continuous Muscle Fiber Activity
Congenital diaphragmatic hernia, Type 1 muscle fiber predominance ORPHA:972
Achondrogenesis Type 1A
Short nose, Hydrops fetalis, Polyhydramnios, Anteverted nares, Micromelia, Thickened nuchal skin ... ORPHA:93299
Achondrogenesis Type 1B
Short nose, Hydrops fetalis, Polyhydramnios, Anteverted nares, Thickened nuchal skin fold, Microm... ORPHA:93298
Myofibrillar Myopathy 11
Type 1 muscle fiber predominance, Calf muscle hypertrophy, EMG: myopathic abnormalities, Increase... OMIM:619178
Myopathy, X-Linked, With Postural Muscle Atrophy
Skeletal muscle hypertrophy, Rimmed vacuoles, Scapular winging, EMG: myopathic abnormalities, Ham... OMIM:300696
Atrioventricular Septal Defect 5
Atrioventricular canal defect, Muscular ventricular septal defect, Hypoplastic left heart OMIM:614474
Trisomy 1Q
Hydrops fetalis, Polyhydramnios, Congenital megaureter, Wide nose, Increased nuchal translucency,... ORPHA:261344
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Restrictive cardio... OMIM:619313
Alpha-B Crystallin-Related Late-Onset Myopathy
Accumulation of muscle fiber desmin, Muscle fiber inclusion bodies, Facial diplegia, Autophagic v... ORPHA:399058
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Muscular dystrophy, Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, W... OMIM:619566
Distal Myopathy, Tateyama Type
Calf muscle pseudohypertrophy, EMG: myopathic abnormalities, Weakness of the intrinsic hand muscl... ORPHA:488650
Hb Bart'S Hydrops Fetalis
Polyhydramnios, Anemia, Hydrops fetalis, Pericarditis, Splenomegaly, Abnormal hemoglobin, Oligohy... ORPHA:163596
Spinal Muscular Atrophy, Type I
Spinal muscular atrophy, Proximal amyotrophy, Atrial septal defect, Ventricular septal defect, Pr... OMIM:253300
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Increased variability in muscle fiber diameter, Myopathy, Proximal muscle weakness in lower limbs ORPHA:1878
Lethal Congenital Contracture Syndrome 10
Convex nasal ridge, Hydrops fetalis, Fetal akinesia sequence, Hypoplasia of the thymus, Micrognat... OMIM:617022
Mesoaxial Hexadactyly And Cardiac Malformation
Torticollis, Pulmonic stenosis, Patent ductus arteriosus, Atrial septal defect, Ventricular septa... OMIM:249670
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Increased variability in muscle fiber diameter, Muscle fiber intracytoplasmic reducing inclusion ... OMIM:300717
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Muscle fiber splitting, Muscular dystrophy, Calf muscle pseudohypertrophy, Muscle fiber necrosis,... OMIM:253700
Renal Tubular Dysgenesis
Polyhydramnios, Proximal tubulopathy, Nephropathy, Oligohydramnios, Premature birth, Tetralogy of... ORPHA:3033
Myopathy, Tubular Aggregate, 1
Weakness of the intrinsic hand muscles, Increased variability in muscle fiber diameter, Joint con... OMIM:160565
Acute Interstitial Pneumonia
Ground-glass opacification, Cyanosis, Atelectasis, Pleural effusion, Parenchymal consolidation, B... ORPHA:79126
Lymphatic Malformation 7
Pulmonary edema, Facial edema, Anemia, Chylothorax, Lymphedema, Pleural effusion, Ascites, Increa... OMIM:617300
Neuraminidase Deficiency
Hydrops fetalis, Vacuolated lymphocytes, Bone-marrow foam cells, Cardiomyopathy, Ascites, Urinary... OMIM:256550
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Muscle fiber splitting, Facial palsy, Limb muscle weakness, Increased variability in muscle fiber... OMIM:616313
Nuchal Bleb, Familial
Hydrops fetalis, Fetal cystic hygroma OMIM:257350
Asbestos Intoxication
Ground-glass opacification, Abnormal pulmonary interstitial morphology, Pleural thickening, Atele... ORPHA:2302
Bethlem Myopathy 2
Increased variability in muscle fiber diameter, Scapular winging, Flexion contracture, Myopathy OMIM:616471
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Muscular dystrophy, Scapular winging, Increased variability in muscle fiber diameter, Centrally n... OMIM:612999
Eng-Strom Syndrome
Camptodactyly of finger, Ventricular septal defect, Abnormal cardiac septum morphology ORPHA:1937
Klippel-Trénaunay Syndrome
Hydrops fetalis, Hematuria, Abnormal tricuspid valve morphology, Venous insufficiency, Peripheral... ORPHA:90308
Postsynaptic Congenital Myasthenic Syndromes
Hip flexor weakness, Cyanosis, Abnormality of masticatory muscle, Triceps weakness, Upper limb mu... ORPHA:98913
Congenital Myopathy 8
Internally nucleated skeletal muscle fibers, Abnormal Z disk morphology, Increased variability in... OMIM:618654
Testicular Anomalies With Or Without Congenital Heart Disease
Abnormality of thyroid physiology, Corpus cavernosum hypoplasia, Microphallus, Cryptorchidism, Te... OMIM:615542
Heterotaxy, Visceral, 6, Autosomal
Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Right aortic arch, Tot... OMIM:614779
Right Atrial Isomerism
Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Pulmonary artery atres... OMIM:208530
Congenital Disorder Of Glycosylation, Type Il
Short nose, Hydrops fetalis, Polycystic kidney dysplasia, Ascites, Fetal skin edema, Pericardial ... OMIM:608776
Cardiomyopathy, Dilated, 1X
Increased variability in muscle fiber diameter, Calf muscle hypertrophy OMIM:611615
Alpha-Thalassemia
Anisopoikilocytosis, Hemoglobin Barts, Hydrops fetalis, Anemia, Cholelithiasis, Pleural effusion,... ORPHA:846
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Erythroid hyperplasia, Hematuria, Anemia, Increased mean corpuscular volume, Extramedullary hemat... OMIM:617021
Congenital Heart Block
Hydrops fetalis, Patent foramen ovale, Pleural effusion, Pericardial effusion, Premature birth, P... ORPHA:60041
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Short nose, Parachute mitral valve, Hypospadias, Anteverted nares, Patent foramen ovale, Pulmonar... OMIM:618316
Diaphragmatic Hernia 5, X-Linked
Congenital diaphragmatic hernia OMIM:306950
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Convex nasal ridge, Abnormal mitral valve morphology, Micrognathia, Mesomelia ORPHA:1277
Glycogen Storage Disease Iv
Hydrops fetalis, Polyhydramnios, Tubulointerstitial fibrosis, Cardiomyopathy, Ascites, Hepatosple... OMIM:232500
Diabetic Embryopathy
Single umbilical artery, Renal hypoplasia/aplasia, Transposition of the great arteries, Ureteral ... ORPHA:1926
Myasthenic Syndrome, Congenital, 14
Knee flexion contracture, Ragged-red muscle fibers, Scapular winging, Muscle fiber tubular inclus... OMIM:616228
Lymphatic Malformation 1
Hyperkeratosis over edematous areas, Hypoplasia of lymphatic vessels, Predominantly lower limb ly... OMIM:153100
Microphthalmia, Syndromic 12
Retrognathia, Hypoplastic left atrium, Cryptorchidism, Micrognathia, Broad nasal tip, Ventricular... OMIM:615524
17Q21.31 Microduplication Syndrome
Delayed puberty, Short nose, Anteverted nares, Micrognathia, Malar flattening ORPHA:217340
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Myopathy OMIM:618992
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Muscle fiber splitting, Lower limb amyotrophy, Ragged-red muscle fibers, Rimmed vacuoles, Upper l... OMIM:616924
Pulmonic Stenosis And Deafness
Pulmonic stenosis, Ventricular hypertrophy OMIM:178651
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Short nose, Micrognathia, Anteverted nares ORPHA:2015
Diamond-Blackfan Anemia 16
Pulmonic stenosis, Atrial septal defect, Anemia OMIM:617408
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Skeletal muscle atrophy, Acrocyanosis ORPHA:2400
Lymphatic Malformation 8
Polyhydramnios, Pleural effusion, Generalized edema, Pericardial effusion, Nonimmune hydrops fetalis OMIM:618773
Diaphragmatic Hernia, Congenital
Congenital diaphragmatic hernia OMIM:142340
Diaphragmatic Hernia 3
Congenital diaphragmatic hernia OMIM:610187
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis, Myopathy ORPHA:91130
Heterotaxy, Visceral, 12, Autosomal
Pulmonic stenosis, Discordant atrioventricular connection, Patent foramen ovale, Common atrium, P... OMIM:619702
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Limb-girdle muscular dystrophy, Increased variability in muscle fiber diameter, Rimmed vacuoles, ... OMIM:612937
Ulnar Agenesis And Endocardial Fibroelastosis
Aplasia of the ulna, Hydrops fetalis, Finger aplasia, Endocardial fibroelastosis OMIM:276822
Congenital Myopathy 18
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Centrally n... OMIM:620246
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Increased variability in muscle fiber diameter, Muscle fiber intracytoplasmic reducing inclusion ... OMIM:300718
Neuralgic Amyotrophy
Upper limb amyotrophy, Scapular winging, Upper limb muscle weakness, Acrocyanosis ORPHA:2901
Bronchogenic Cyst
Bronchogenic cyst, Abnormal pulmonary thoracic imaging finding, Abnormality of the diaphragm, Ate... ORPHA:2357
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Short nose, Polyhydramnios, Hydroureter, Hypoplasia of penis, Abnormality of the bladder, Abnorma... ORPHA:2547
Atrial Septal Defect 2
Atrioventricular canal defect, Dextrocardia, Pulmonic stenosis, Patent ductus arteriosus, Atrial ... OMIM:607941
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Skeletal ... OMIM:620542
Fetal Gaucher Disease
Hydrops fetalis, Pancytopenia, Anteverted nares, Thrombocytopenia, Splenomegaly, Intracranial hem... ORPHA:85212
Mosaic Trisomy 9
Single umbilical artery, Hydrops fetalis, Polyhydramnios, Dextrocardia, Hypoplasia of penis, Abno... ORPHA:99776
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Muscle fiber splitting, Calf muscle hypertrophy, Rimmed vacuoles, Scapular winging, Myofibrillar ... OMIM:603689
Lymphangiectasia, Pulmonary, Congenital
Palpebral edema, Polyhydramnios, Chylothorax, Lymphedema, Pleural effusion, Ascites, Chylous asci... OMIM:265300
Oculopharyngodistal Myopathy 3
Internally nucleated skeletal muscle fibers, Distal amyotrophy, Rimmed vacuoles, Limb muscle weak... OMIM:619473
Weiss-Kruszka Syndrome
Short nose, Decreased response to growth hormone stimulation test, Prominent nasal tip, Abnormal ... ORPHA:502430
Cutis Laxa-Marfanoid Syndrome
Congenital diaphragmatic hernia, Emphysema, Flexion contracture ORPHA:171719
Lymphatic Malformation 6
Facial edema, Intestinal lymphangiectasia, Polyhydramnios, Chylothorax, Genital edema, Lymphedema... OMIM:616843
Heterotaxy, Visceral, 8, Autosomal
Congenitally corrected transposition of the great arteries with ventricular septal defect, Dextro... OMIM:617205
Heart Defects, Congenital, And Other Congenital Anomalies
Single umbilical artery, Perimembranous ventricular septal defect, Ureteral duplication, Transpos... OMIM:600001
Whim Syndrome 2
Chronic neutropenia, Tetralogy of Fallot OMIM:619407
Heterotaxy, Visceral, 1, X-Linked
Enlarged kidney, Pulmonic stenosis, Absence of the sacrum, Cardiomegaly, Right atrial isomerism, ... OMIM:306955
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Congenital diaphragmatic hernia, Emphysema OMIM:614100
Hypoplastic Left Heart Syndrome 2
Hypoplastic left heart, Mitral atresia, Ventricular septal defect, Aortic valve atresia OMIM:614435
Acrocardiofacial Syndrome
Hypospadias, Hypoplasia of penis, Truncus arteriosus, Cryptorchidism, Coarctation of aorta, Mitra... ORPHA:2008
Maternal Phenylketonuria
Deviated nasal septum, Abnormal renal morphology, Anteverted nares, Coarctation of aorta, Abnorma... ORPHA:2209
Ciliary Dyskinesia, Primary, 52
Situs inversus totalis, Transposition of the great arteries, Patent ductus arteriosus, Patent for... OMIM:620570
Adult-Onset Nemaline Myopathy
Type 1 muscle fiber predominance, Upper limb muscle weakness, Nemaline bodies, EMG: myopathic abn... ORPHA:171442
Partial Atrioventricular Septal Defect
Abnormal tricuspid valve morphology, Bacterial endocarditis, Coronary sinus enlargement, Transien... ORPHA:1330
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Retrognathia, Ectopic kidney, Nonimmune hydrops fetalis, Cryptorchidism, Short palm, Malar flatte... OMIM:235510
Adams-Oliver Syndrome 4
Absent middle phalanx of the 3rd toe, Aplasia of the distal phalanges of the toes, Aplasia of the... OMIM:615297
Congenital Diaphragmatic Hernia
Congenital diaphragmatic hernia, Hypoxemia, Aplasia/Hypoplasia of the diaphragm, Pulmonary hypopl... ORPHA:2140
Congenital Myopathy 6 With Ophthalmoplegia
Muscle fiber inclusion bodies, Scapular winging, Congenital contracture, Increased variability in... OMIM:605637
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Muscular dystrophy, Increased variability in muscle fiber diameter, Proximal amyotrophy, Skeletal... OMIM:614302
Cardiomyopathy, Familial Hypertrophic, 27
Ventricular septal hypertrophy, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... OMIM:618052
Achondrogenesis, Type Ib
Polyhydramnios, Breech presentation, Hydrops fetalis, Short ribs, Micromelia, Malar flattening, E... OMIM:600972
Mitochondrial Complex I Deficiency, Nuclear Type 35
Nonimmune hydrops fetalis, Elevated urinary 4-hydroxybutyric acid, Cardiomyopathy, Lacticaciduria OMIM:619003
Tibial Muscular Dystrophy, Tardive
Muscular dystrophy, Tibialis anterior muscle atrophy, Rimmed vacuoles, EMG: myopathic abnormaliti... OMIM:600334
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Unilateral renal agenesis, Low hanging columella, Patent foramen ovale, Increased nuchal transluc... OMIM:618494
Congenital Myopathy 14
Knee flexion contracture, Elbow flexion contracture, Increased variability in muscle fiber diamet... OMIM:618414
Lymphatic Malformation 12
Polyhydramnios, Lymphedema, Fetal pericardial effusion, Fetal pleural effusion, Recurrent upper a... OMIM:620014
Peroxisome Biogenesis Disorder 12A (Zellweger)
Decreased fetal movement, Cholelithiasis, Prominent nose, Patent ductus arteriosus, Double outlet... OMIM:614886
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
3C Syndrome
Single umbilical artery, Short nose, Atrioventricular canal defect, Abnormal tricuspid valve morp... ORPHA:7
Beaulieu-Boycott-Innes Syndrome
Long nose, Unilateral renal agenesis, Low hanging columella, Recurrent urinary tract infections, ... OMIM:613680
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Muscular dystrophy, Calf muscle hypertrophy, Triceps weakness, Limb-girdle muscle weakness, Centr... ORPHA:86812
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent lower respiratory tract infections, Recurrent bronchitis, Recurrent pneumo... OMIM:616726
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Internally nucleated skeletal muscle fibers, Proximal muscle weakness in upper limbs, Calf muscle... OMIM:618138
Severe X-Linked Mitochondrial Encephalomyopathy
Increased variability in muscle fiber diameter, Skeletal muscle atrophy ORPHA:238329
Trisomy 13
Hydrops fetalis, Abnormality of the ureter, Cryptorchidism, Hydronephrosis, Displacement of the u... ORPHA:3378
Nephronophthisis 16
Situs inversus totalis, Enlarged kidney, Nephronophthisis, Polycystic kidney dysplasia, Hypertrop... OMIM:615382
Gm1-Gangliosidosis, Type I
Hydrops fetalis, Abnormal heart valve morphology, Vacuolated lymphocytes, Hypertrophic cardiomyop... OMIM:230500
Nemaline Myopathy 2
Muscle fiber splitting, Calf muscle pseudohypertrophy, Rimmed vacuoles, EMG: myopathic abnormalit... OMIM:256030
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Peripheral pulmonary artery stenosis, Ventricular septal defect, Tetralogy of Fallot OMIM:617992
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Nemaline ... OMIM:620265
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Congenital diaphragmatic hernia, Retinal telangiectasia, Telangiectasia of the skin, Cutaneous ph... ORPHA:438134
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Muscular dystrophy, Ankle flexion contracture, Increased variability in muscle fiber diameter, Ce... OMIM:617072
Sialidosis Type 2
Hydrops fetalis, Ascites, Splenomegaly, Nephropathy, Pedal edema ORPHA:87876
Congenital Heart Defects, Multiple Types, 2
Myxomatous mitral valve degeneration, Aortic aneurysm, Aortic valve stenosis, Tetralogy of Fallot... OMIM:614980
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Renal hypoplasia/aplasia, Vesicoureteral reflux, Abnormal aortic morphology, Cryptorchidism, Micr... ORPHA:1166
Image Syndrome
Hypospadias, Adrenal hypoplasia, Micromelia, Hydronephrosis, Hypogonadism, Cryptorchidism, Depres... ORPHA:85173
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Bronchiectasis, Recurrent respiratory infections, Atelectasis OMIM:619466
Aortic Arch Interruption
Transposition of the great arteries, Patent ductus arteriosus, Aortic valve atresia, Aortopulmona... ORPHA:2299
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Atrial septal defect, Partial anomalous pulmonary venous return, Dextrocardia, Ventricular septal... OMIM:619657
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Long nose, Palpebral edema, Abnormal renal glomerulus morphology, Mandibular prognathia, Lymphede... OMIM:137940
Fetal Encasement Syndrome
Increased urinary 8-oxo-7,8-dihydroguanosine level, Upper limb undergrowth, Tetralogy of Fallot, ... OMIM:613630
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Frontalis muscle weakness, Facial palsy, Myopathy, Type 1 fibers relatively smaller than type 2 f... OMIM:300580
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Abnormal nasal morphology, Abnormal localization of kidney, Ventricular septal defect, Depressed ... ORPHA:83473
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Muscular dystrophy, Skeletal muscle hypertrophy, Calf muscle hypertrophy, Increased variability i... OMIM:613157
Lethal Osteosclerotic Bone Dysplasia
Retrognathia, Short nose, Anteverted nares, Mandibular aplasia, Depressed nasal ridge, Micrognathia ORPHA:1832
Non-Distal Duplication 10Q
Short nose, Micrognathia, Convex nasal ridge, Cryptorchidism, Abnormality of the urinary system, ... ORPHA:1695
Mmep Syndrome
Mandibular prognathia, Ventricular septal defect, Cryptorchidism ORPHA:3434
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Delayed eruption of permanent teeth, Anteverted nares, Ventricular septal defect, Short nose OMIM:618506
Oculopharyngeal Muscular Dystrophy
Ragged-red muscle fibers, Abnormal muscle fiber morphology, Rimmed vacuoles, Myopathy ORPHA:270
Primary Ciliary Dyskinesia
Situs inversus totalis, Transposition of the great arteries, Abnormal atrial arrangement, Abnorma... ORPHA:244
Heart Defects-Limb Shortening Syndrome
Abnormal tricuspid valve morphology, Mesomelic/rhizomelic limb shortening, Abnormal mitral valve ... ORPHA:1354
Oculopharyngodistal Myopathy 4
Rimmed vacuoles, Autophagic vacuoles, EMG: myopathic abnormalities, Increased variability in musc... OMIM:619790
Tetralogy Of Fallot
Cryptorchidism, Tetralogy of Fallot, Abnormal nasal morphology ORPHA:3303
Autosomal Recessive Amelia
Polyhydramnios, Hypoplasia of penis, Amelia involving the upper limbs, Amelia, Acromelia of the l... ORPHA:1027
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent bronchitis, Atelectasis OMIM:300455
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Short nose, Anteverted nares, Hypospadias, Depressed nasal ridge ORPHA:1355
Ciliary Dyskinesia, Primary, 21
Bronchiectasis, Recurrent pneumonia, Atelectasis OMIM:615294
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Wide nose, Aortic aneurysm, Abnormal renal morphology, Patent foramen ovale, Persistent left supe... ORPHA:477817
Renal Hypodysplasia/Aplasia 3
Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Renal dysplasia, Multicystic kidney dyspla... OMIM:617805
Heterotaxy, Visceral, 5, Autosomal
Ureteral duplication, Atrioventricular canal defect, Double inlet left ventricle, Dextrocardia, P... OMIM:270100
Congenital Primary Megaureter
Congenital megaureter, Recurrent urinary tract infections, Vesicoureteral reflux, Nephrolithiasis... ORPHA:617
Myotubular Myopathy With Abnormal Genital Development
Centrally nucleated skeletal muscle fibers, Atelectasis, Myopathy OMIM:300219
Maxillonasal Dysplasia, Binder Type
Short nose, Short distal phalanx of finger, Dental malocclusion, Depressed nasal bridge, Short co... OMIM:155050
Congenital Myopathy 1B, Autosomal Recessive
Muscular dystrophy, Type 1 and type 2 muscle fiber minicore regions, Facial palsy, Nemaline bodie... OMIM:255320
8p23.1 deletion syndrome
Congenital diaphragmatic hernia DECIPHER:39
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Camptodactyly, Arthrogryposis multiplex congenita, Pulmonic stenosis, Atrial septal defect, Ventr... OMIM:614262
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Pulmonic stenosis, Leukopenia, Splenomegaly, Lymphopenia, Neutropenia, Secundum atrial septal def... OMIM:612541
Feingold Syndrome Type 2
Short middle phalanx of finger, Ventricular septal defect, Short thumb ORPHA:391646
Congenital Myopathy 19
Depressed nasal ridge, Micrognathia, Hydronephrosis, Decreased fetal movement, Cryptorchidism, Re... OMIM:618578
Feingold Syndrome 2
Short middle phalanx of the 2nd finger, Ventricular septal defect, Short middle phalanx of the 5t... OMIM:614326
Congenital Multicore Myopathy With External Ophthalmoplegia
Internally nucleated skeletal muscle fibers, Muscular dystrophy, Tibialis anterior muscle atrophy... ORPHA:98905
9q subtelomeric deletion syndrome
Short nose, Anteverted nares, Abnormal heart morphology DECIPHER:52
Infant Acute Respiratory Distress Syndrome
Pulmonary edema, Atelectasis, Hypoxemia, Respiratory tract infection, Pneumonia, Cyanosis ORPHA:70587
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Ground-glass opacification, Atelectasis, Parenchymal consolidation, Elevated bronchoalveolar lava... OMIM:610978
Waardenburg Syndrome Type 3
Camptodactyly of finger, Atelectasis, Acrocyanosis ORPHA:896
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Muscular dystrophy, Increased variability in muscle fiber diameter, Centrally nucleated skeletal ... OMIM:617066
Congenital Myopathy 5 With Cardiomyopathy
Calf muscle hypertrophy, Increased variability in muscle fiber diameter, Centrally nucleated skel... OMIM:611705
Alagille Syndrome 2
Long nose, Hematuria, Renal tubular acidosis, Renal cyst, Pulmonic stenosis, Renal hypoplasia, Te... OMIM:610205
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Short nose, Prominent nasal bridge, Patent ductus arteriosus, Atrial septal defect, Ventricular s... OMIM:613870
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Enlarged kidney, Transposition of the great arteries, Atrioventricular canal defect, Dextrocardia... OMIM:314390
Congenital Enterovirus Infection
Myocarditis, Fetal distress, Hydrops fetalis, Polyhydramnios, Anemia, Abnormal macrophage morphol... ORPHA:292
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Dysplastic pulmonary valve, Anteverted nares, Precocious puberty, Bulbous nose, Wide nasal bridge OMIM:300958
Diamond-Blackfan Anemia 6
Retrognathia, Macrocytic anemia, Increased mean corpuscular volume, Ventricular hypertrophy, Pers... OMIM:612561
Fanconi Anemia, Complementation Group O
Hypoplasia of the radius, Renal cyst, Hydronephrosis, Abnormal heart morphology, Absent thumb, Sh... OMIM:613390
Xk Aprosencephaly Syndrome
Abnormal nostril morphology, Polyhydramnios, Atrial septal defect, Ventricular septal defect ORPHA:3469
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Retrognathia, Polyhydramnios, Hypospadias, Duplicated collecting system, Vesicoureteral reflux, P... OMIM:301056
Combined Oxidative Phosphorylation Deficiency 41
Anemia, Premature birth, Nonimmune hydrops fetalis, Decreased circulating cortisol level, Cardiom... OMIM:618838
Reticular Dysgenesis
Congenital agranulocytosis, Leukopenia, Hypoplasia of the thymus, Lymphopenia OMIM:267500
Ventricular Septal Defect 3
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:614432
Even-Plus Syndrome
Short nose, Recurrent urinary tract infections, Patent foramen ovale, Vesicoureteral reflux, Bifi... OMIM:616854
Cardioacrofacial Dysplasia 1
Atrioventricular canal defect, Hypoplasia of the maxilla, Limb undergrowth, Overhanging nasal tip... OMIM:619142
Heterotaxy, Visceral, 2, Autosomal
Situs inversus totalis, Atrioventricular canal defect, Transposition of the great arteries, Mesoc... OMIM:605376
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Perimembranous ventricular septal defect, Atrioventricular canal defect, Hypospadias, Pelvic kidn... ORPHA:508498
Idiopathic Chronic Eosinophilic Pneumonia
Generalized abnormality of skin, Abnormal pulmonary thoracic imaging finding, Hypersensitivity pn... ORPHA:2902
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
C1Q Deficiency 2
Facial erythema, Atelectasis, Recurrent lower respiratory tract infections, Vasculitis in the ski... OMIM:620321
X-Linked Centronuclear Myopathy
Necklace skeletal muscle fibers, Type 1 fibers relatively smaller than type 2 fibers, Centrally n... ORPHA:596
Tetralogy Of Fallot
Tetralogy of Fallot OMIM:187500
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Short nose, Anteverted nares, Short distal phalanx of toe, Precocious puberty, Micrognathia, Shor... OMIM:619356
Intellectual Developmental Disorder, X-Linked 91
Short 5th finger, Short nose, Short foot, Small hand OMIM:300577
Meconium Aspiration Syndrome
Pneumothorax, Transient pulmonary infiltrates, Abnormal pulmonary thoracic imaging finding, Atele... ORPHA:70588
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Polyhydramnios, Pancreatic lymphangiectasis, Lymphedema, Ascites, Thickened nuchal skin fold, Cry... OMIM:235255
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Calf muscle pseudohypertrophy, Calf muscle hypertrophy, Scapular winging, Upper limb muscle weakn... ORPHA:353
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Atrial septal defect, Ventricular septal defect, Micrognathia OMIM:608227
Cutis Laxa, Autosomal Recessive, Type Ic
Retrognathia, Multiple bladder diverticula, Vascular dilatation, Breech presentation, Accessory s... OMIM:613177
Developmental And Epileptic Encephalopathy 96
Hydrops fetalis OMIM:619340
Renal Caliceal Diverticuli-Deafness Syndrome
Abnormality of the kidney, Hydroureter, Abnormality of the upper urinary tract, Hydronephrosis, A... ORPHA:2838
Dyssegmental Dysplasia, Silverman-Handmaker Type
Single umbilical artery, Hydrops fetalis, Short ribs, Micromelia, Micrognathia, Abnormal heart mo... ORPHA:1865
Femoral-Facial Syndrome
Aplasia/hypoplasia of the femur, Pulmonic stenosis, Short humerus, Premature birth, Absent verteb... OMIM:134780
Congenital Myopathy 15
Camptodactyly, Increased variability in muscle fiber diameter, Weakness of facial musculature, Fa... OMIM:620161
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Hydrops fetalis, Anemia, Reduced red cell pyruvate kinase level, Chronic hemolytic anemia, Reticu... ORPHA:766
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Short nose, Ventricular hypertrophy, Choanal atresia, Pulmonic stenosis, Coarctation of aorta, Ab... ORPHA:284169
Boomerang Dysplasia
Decreased response to growth hormone stimulation test, Hydrops fetalis, Polyhydramnios, Micromeli... ORPHA:1263
Chromosome 15Q26-Qter Deletion Syndrome
Hypospadias, Micrognathia, Short middle phalanx of finger, Cryptorchidism, Micropenis, Wide nasal... OMIM:612626
Posterior Urethral Valve
Retrognathia, Urinary incontinence, Unilateral renal dysplasia, Recurrent urinary tract infection... ORPHA:93110
Ciliary Dyskinesia, Primary, 29
Bronchiectasis, Recurrent respiratory infections, Atelectasis OMIM:615872
Congenital Myopathy 10B, Mild Variant
Increased endomysial connective tissue, Generalized limb muscle atrophy, Type 1 and type 2 muscle... OMIM:620249
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Renal hypoplasia/aplasia, Polyhydramnios, Hypospadias, Anemia, Hypoplasia of penis, Ascites, Depr... ORPHA:1046
Diabetes Insipidus, Neurohypophyseal
Short nose, Central diabetes insipidus, Wide nose, Decreased circulating osteocalcin level OMIM:125700
Methimazole Embryofetopathy
Polyhydramnios, Hypospadias, Abnormal aortic morphology, Choanal atresia, Hypothyroidism, Coarcta... ORPHA:1923
Acrocephalopolydactyly
Short nose, Abnormal renal morphology, Depressed nasal ridge, Limb undergrowth, Hepatosplenomegaly ORPHA:221054
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Muscle fiber necrosis, Increased variability in muscle fiber diameter, Centrally nucleated skelet... OMIM:620138
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Retrognathia, Vesicoureteral reflux, Micrognathia, Hydronephrosis, Nonimmune hydrops fetalis OMIM:618265
Congenital Myopathy 10A, Severe Variant
Facial palsy, EMG: myopathic abnormalities, Muscle fiber necrosis, Camptodactyly of finger, Incre... OMIM:614399
Hadziselimovic Syndrome
Anteverted nares, Ventricular hypertrophy, Pulmonary artery atresia, Renal hypoplasia, Tetralogy ... OMIM:612946
Congenital Myopathy 20
Scapular winging, Nemaline bodies, Congenital contracture, Increased variability in muscle fiber ... OMIM:620310
Teebi Hypertelorism Syndrome 1
Single umbilical artery, Short nose, Aortic root aneurysm, Anteverted nares, Hydrocele testis, Mi... OMIM:145420
Isobutyryl-Coa Dehydrogenase Deficiency
Pulmonic stenosis, Dilated cardiomyopathy, Dicarboxylic aciduria, Dehydration ORPHA:79159
16P13.11 Microduplication Syndrome
Transposition of the great arteries, Coarctation of aorta, Tetralogy of Fallot, Atrial septal def... ORPHA:261243
Idiopathic Pulmonary Fibrosis
Ground-glass opacification, Abnormal pulmonary interstitial morphology, Orthodeoxia, Reticular pa... ORPHA:2032
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Hypospadias, Dysplastic pulmonary valve, Recurrent urinary tract infections, Mandibular prognathi... OMIM:619103
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Short nose, Hypospadias, Anteverted nares, Renal agenesis, Renal hypoplasia, Short palm, Microgna... ORPHA:171839
Catel-Manzke Syndrome
Atrial septal defect, Ventricular septal defect, Malar flattening, Micrognathia ORPHA:1388
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Spinal muscular atrophy, Increased variability in muscle fiber diameter, Pulmonary hypoplasia, Fl... OMIM:616867
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Retrognathia, Short nose, Enuresis, Broad nasal tip, Malar flattening OMIM:613670
Rhiny
Short nose, Anteverted nares OMIM:180360
Noonan Syndrome 12
Decreased response to growth hormone stimulation test, Polyhydramnios, 11 pairs of ribs, Tetralog... OMIM:618624
Ullrich Congenital Muscular Dystrophy
Torticollis, Elbow flexion contracture, EMG: myopathic abnormalities, Increased variability in mu... ORPHA:75840
Alg9-Cdg
Enlarged kidney, Low insertion of columella, Hypoplasia of the ovary, Abnormal heart morphology, ... ORPHA:79328
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Ventricular septal defect, Left superior vena cava draining directly to the left atrium, Pulmonar... OMIM:613759
Gaucher Disease, Perinatal Lethal
Retrognathia, Short nose, Polyhydramnios, Anemia, Anteverted nares, Ascites, Micrognathia, Premat... OMIM:608013
Mycophenolate Mofetil Embryopathy
Hydrops fetalis, Ectopic kidney, Short palm, Coarctation of aorta, Micrognathia, Bifid nose, Vent... ORPHA:268249
Absence Of The Pulmonary Artery
Pulmonary edema, Pedal edema, Patent foramen ovale, Truncus arteriosus, Abnormal inferior vena ca... ORPHA:980
Renal Hypoplasia
Abnormal renal tubule morphology, Unilateral renal agenesis, Recurrent urinary tract infections, ... ORPHA:93101
Lymphedema-Distichiasis Syndrome
Predominantly lower limb lymphedema, Chylothorax, Lymphedema, Micrognathia, Tetralogy of Fallot, ... OMIM:153400
22Q11.2 Deletion Syndrome
Abnormal aortic arch morphology, Multiple renal cysts, Splenomegaly, Tricuspid atresia, Hypospadi... ORPHA:567
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Proximal muscle weakness in upper limbs, Limb muscle weakness, Increased variability in muscle fi... OMIM:613954
2p15-16.1 microdeletion syndrome
Hydronephrosis DECIPHER:70
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hydrops fetalis, Anemia, Short middle phalanx of the 4th finger, Hydrocele testis, Hepatosplenome... OMIM:616738
Childhood-Onset Nemaline Myopathy
Generalized limb muscle atrophy, Facial diplegia, Scapular winging, EMG: myopathic abnormalities,... ORPHA:171439
Tetraploidy
Renal hypoplasia/aplasia, Micrognathia, Hydronephrosis, Aplasia/Hypoplasia of the thymus, Convex ... ORPHA:3305
Lymphatic Malformation 13
Single umbilical artery, Patent foramen ovale, Lymphedema, Ascites, Fetal pleural effusion, Fetal... OMIM:620244
Johanson-Blizzard Syndrome
Abnormal nostril morphology, Short nose, Anemia, Dextrocardia, Hypospadias, Hypoplasia of penis, ... ORPHA:2315
Fibrochondrogenesis 1
Short nose, Fibular hypoplasia, Hydrops fetalis, Rhizomelia, Anteverted nares, Patent foramen ova... OMIM:228520
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Pulmonic stenosis, Retinal arterial macroaneurysms OMIM:614224
Hennekam Syndrome
Retrognathia, Supernumerary tooth, Hydrops fetalis, Arteriovenous malformation, Ectopic kidney, L... ORPHA:2136
Blomstrand Lethal Chondrodysplasia
Short nose, Hydrops fetalis, Rhizomelia, Polyhydramnios, Anteverted nares, Short ribs, Short meta... ORPHA:50945
Burn-Mckeown Syndrome
Bilateral choanal atresia, Unilateral renal agenesis, Bilateral choanal atresia/stenosis, Mandibu... OMIM:608572
Ullrich Congenital Muscular Dystrophy 2
Muscular dystrophy, Increased variability in muscle fiber diameter, Facial palsy, Flexion contrac... OMIM:616470
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Atrial septal defect, Retrognathia, Unilateral renal agenesis, Micrognathia, Crossed fused renal ... OMIM:618142
Chromosome 1P36 Deletion Syndrome, Proximal
Atrial septal defect, Partial anomalous pulmonary venous return, Coronary artery fistula, Antever... OMIM:619343
Maxillonasal Dysplasia
Abnormal nostril morphology, Short nose, Mandibular prognathia, Depressed nasal ridge, Hypoplasia... ORPHA:1248
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Increased variability in muscle fiber diameter, Increased intramyocellular lipid droplets OMIM:619065
Birk-Aharoni Syndrome
Muscular ventricular septal defect, Duplicated collecting system, Macrocytic anemia, Long nasal b... OMIM:620071
Gm1 Gangliosidosis
Hydrops fetalis, Mandibular prognathia, Cardiomyopathy, Depressed nasal ridge, Abnormal heart mor... ORPHA:354
Short Stature-Wormian Bones-Dextrocardia Syndrome
Renal hypoplasia/aplasia, Dextrocardia, Anterior hypopituitarism, Delayed eruption of teeth, Depr... ORPHA:2863
Anemia, Congenital Dyserythropoietic, Type Iv
Hydrops fetalis, Anemia, Hypospadias, Reduced hematocrit, Anemia of inadequate production, Hypert... OMIM:613673
Platyspondylic Dysplasia, Torrance Type
Hydrops fetalis, Polyhydramnios, Micromelia, Short palm, Malar flattening, Short distal phalanx o... ORPHA:85166
Distal 22Q11.2 Microdeletion Syndrome
Aortic aneurysm, Recurrent urinary tract infections, Truncus arteriosus, Choanal atresia, Short p... ORPHA:261330
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Short nose, Abnormal cardiac septum morphology ORPHA:2370
Congenital Myopathy 3 With Rigid Spine
Muscular dystrophy, Type 1 and type 2 muscle fiber minicore regions, Facial palsy, Increased vari... OMIM:602771
Serkal Syndrome
Abnormality of the adrenal glands, Hypospadias, Ventricular septal defect, Renal agenesis, Pulmon... ORPHA:139466
46,Xx Sex Reversal 5
Aplasia of the left hemidiaphragm, Secundum atrial septal defect, Ventricular septal defect, Hypo... OMIM:618901
Tetrasomy 15Q26
Hypoplastic aortic arch, Hydronephrosis, Microretrognathia, Patent ductus arteriosus, Atrial sept... OMIM:614846
Left Ventricular Noncompaction 1
Patent ductus arteriosus, Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricul... OMIM:604169
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Hydronephrosis, Abnormality of the urinary system ORPHA:2669
Noonan Syndrome 2
Abnormal coronary artery origin, Cardiomyopathy, Pulmonic stenosis, Nonimmune hydrops fetalis, Mi... OMIM:605275
Congenital Heart Defects, Multiple Types, 7
Right aortic arch, Absence of the pulmonary valve, Pulmonary artery atresia, Double aortic arch, ... OMIM:618780
Free Sialic Acid Storage Disease
Hydrops fetalis, Ascites, Nephrotic syndrome, Splenomegaly, Proteinuria ORPHA:834
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Congenital Anomalies Of Kidney And Urinary Tract 3
Ectopic kidney, Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis, Multicystic kidney dyspl... OMIM:618270
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Autoimmune hemolytic anemia, Polyhydramnios, Impaired lymphocyte transformation with phytohemaggl... OMIM:243150
Meckel Syndrome, Type 8
Short nose, Enlarged kidney, Polycystic kidney dysplasia, Depressed nasal ridge, Pericardial effu... OMIM:613885
Long-Olsen-Distelmaier Syndrome
Secundum atrial septal defect, Nonimmune hydrops fetalis, Cardiomegaly, Dilated cardiomyopathy, V... OMIM:620609
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Short nose, Hypoplasia of penis, Thickened nuchal skin fold, Micrognathia, Hydronephrosis, Promin... ORPHA:2083
Capillary Malformation-Arteriovenous Malformation
Arteriovenous malformation, Chylothorax, Arteriovenous fistula, Neurogenic bladder, Peripheral ar... ORPHA:137667
Rhizomelic Syndrome
Pulmonic stenosis, Micrognathia, Rhizomelia OMIM:268250
Polyvalvular Heart Disease Syndrome
Abnormal heart valve morphology, Pulmonic stenosis, Aortic valve stenosis, Micrognathia, Mitral v... ORPHA:228410
Fraser Syndrome 3
Sonographic non-visualized fetal bladder, Wide nose, Hypoplasia of penis, Bilateral renal agenesi... OMIM:617667
Noonan Syndrome 4
Ureteral duplication, Polyhydramnios, Dental malocclusion, Hypertrophic cardiomyopathy, Cryptorch... OMIM:610733
Ventriculomegaly With Cystic Kidney Disease
Polyhydramnios, Vascular dilatation, Tubular luminal dilatation, Fetal pericardial effusion, Prem... OMIM:219730
Heterotaxy, Visceral, 7, Autosomal
Hypoplasia of right ventricle, Situs inversus totalis, Transposition of the great arteries, Abnor... OMIM:616749
Cat Eye Syndrome
Tricuspid atresia, Vesicoureteral reflux, Total anomalous pulmonary venous return, Renal agenesis... OMIM:115470
8Q12 Microduplication Syndrome
Vesicoureteral reflux, Short foot, Atrial septal defect, Ventricular septal defect, Wide nasal br... ORPHA:228399
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Flexi... OMIM:618484
Gillespie Syndrome
Truncus arteriosus OMIM:206700
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Muscular dystrophy, Muscle fiber necrosis, Limb muscle weakness, Limb-girdle muscle weakness, Cen... OMIM:616812
Microgastria-Limb Reduction Defect Syndrome
Renal hypoplasia/aplasia, Truncus arteriosus, Amelia, Aplastic clavicle, Absent hand, Renal agene... ORPHA:2538
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal ventriculoarterial connection, Abnormal coronary artery morphology, Maternal diabetes, A... ORPHA:860
Intellectual Developmental Disorder, Autosomal Recessive 79
Ventricular septal defect, Broad nasal tip, Wide nasal bridge, Short hallux OMIM:620393
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis OMIM:302000
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
EMG: myopathic abnormalities, Limb muscle weakness, Increased variability in muscle fiber diamete... ORPHA:486815
Mitochondrial Complex I Deficiency, Nuclear Type 39
Perimembranous ventricular septal defect, Anemia, Hypospadias, Hypertrophic cardiomyopathy, Cardi... OMIM:620135
Carpenter Syndrome 1
Transposition of the great arteries, Hydroureter, Polysplenia, Persistence of primary teeth, Pulm... OMIM:201000
Peho-Like Syndrome
Edema, Retrognathia, Short nose OMIM:617507
Hydrocephaly-Low Insertion Umbilicus Syndrome
Long nose, Wide nose, Tetralogy of Fallot, Patent ductus arteriosus, Anomalous pulmonary venous r... ORPHA:2184
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:617241
Congenital Syphilis
Myocarditis, Large placenta, Hydrops fetalis, Anemia, Lymphadenopathy, Notched primary central in... ORPHA:499009
Peroxisome Biogenesis Disorder 2A (Zellweger)
Palpebral edema, Polycystic kidney dysplasia, Hypoplasia of the thymus, Micrognathia, Abnormal he... OMIM:214110
Down Syndrome
Prenatal double bubble sign, Atrioventricular canal defect, Partial anomalous pulmonary venous re... OMIM:190685
Trisomy 17P
Patent ductus arteriosus, Wide nose, Hypoplasia of penis, Polycystic kidney dysplasia, Thick nasa... ORPHA:261290
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Muscle fiber splitting, Muscular dystrophy, Increased variability in muscle fiber diameter, Mothe... OMIM:226670
Immunodeficiency, Common Variable, 6
Enlarged kidney, Nephrotic range proteinuria, Abnormal T cell count, Mesangial Immune complex dep... OMIM:613496
Hypotonia, Infantile, With Psychomotor Retardation
Increased variability in muscle fiber diameter, Myopathy OMIM:616816
Suleiman-El-Hattab Syndrome
Patent foramen ovale, Cryptorchidism, Hydronephrosis, Microretrognathia, Atrial septal defect, Ve... OMIM:618950
Myopathy, Myofibrillar, 7
Shoulder flexion contracture, Type 2 muscle fiber predominance, Elbow flexion contracture, Z-band... OMIM:617114
Li-Campeau Syndrome
Patellar hypoplasia, Patent foramen ovale, Cryptorchidism, Hypothyroidism, Patent ductus arterios... OMIM:619189
Syndromic Diarrhea
Thrombocytosis, Polycystic kidney dysplasia, Lymphopenia, Hypoplasia of the thymus, Hypothyroidis... ORPHA:84064
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Decreased response to growth hormone stimulation test, Hypoparathyroidism, Abnormal B cell morpho... OMIM:618223
Autosomal Dominant Omodysplasia
Short nose, Rhizomelia, Hypoplasia of penis, Short palm, Micrognathia, Short humerus, Malar flatt... ORPHA:93328
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Cryptorchidism, Hydronephrosis, Broad nasal tip, Prominent nasal bridge, Microretrognathia, Paten... ORPHA:457193
Foxp1 Syndrome
Abnormality of the kidney, Retrognathia, Short nose, Mandibular prognathia, Hypothyroidism, Abnor... ORPHA:391372
Achondrogenesis, Type Ia
Hypoplasia of the radius, Hypoplastic sacrum, Hydrops fetalis, Polyhydramnios, Short nose, Severe... OMIM:200600
Surfactant Metabolism Dysfunction, Pulmonary, 3
Ground-glass opacification, Reticular pattern on pulmonary HRCT, Paraseptal emphysema, Honeycomb ... OMIM:610921
Codas Syndrome
Short nose, Midline defect of the nose, Hydroureter, Delayed eruption of teeth, Abnormal dental e... ORPHA:1458
8P23.1 Microdeletion Syndrome
Short nose, Transposition of the great arteries, Atrioventricular canal defect, Hypospadias, Abno... ORPHA:251071
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Intellectual Developmental Disorder, Autosomal Recessive 73
Decreased fetal movement, Ventricular septal defect, Patent ductus arteriosus OMIM:619717
Kallmann Syndrome-Heart Disease Syndrome
Delayed puberty, Partial anosmia, Anomalous origin of left coronary artery from the pulmonary art... ORPHA:2326
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Palpebral edema, Hydrops fetalis, Predominantly lower limb lymphedema, Abnormality of the lymphat... ORPHA:69735
Polysyndactyly With Cardiac Malformation
Polyhydramnios, Anteverted nares, Renal cyst, Atrial septal defect, Ventricular septal defect OMIM:263630
Kleefstra Syndrome
Short nose, Advanced eruption of teeth, Supernumerary nipple, Hypospadias, Hypoplasia of penis, D... ORPHA:261494
8Q24.3 Microdeletion Syndrome
Abnormal heart morphology, Short 5th finger, Oligohydramnios, Ectopic posterior pituitary, Abnorm... ORPHA:508488
Combined Oxidative Phosphorylation Deficiency 8
Increased variability in muscle fiber diameter, Pulmonary hypoplasia OMIM:614096
Hamel Cerebro-Palato-Cardiac Syndrome
Micrognathia, Malar flattening, Atrial septal defect, Bulbous nose, Wide nasal bridge ORPHA:93946
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Long nose, Wide nose, Low insertion of columella, Dextrotransposition of the great arteries, Broa... OMIM:619995
Perlman Syndrome
Retrognathia, Short nose, Hyperinsulinemia, Abnormal pancreas morphology, Hypoplasia of penis, An... ORPHA:2849
Prune Belly Syndrome
Hydroureter, Renal insufficiency, Abnormality of the bladder, Recurrent urinary tract infections,... ORPHA:2970
Primary Pulmonary Hypoplasia
Pneumothorax, Abnormal hemidiaphragm morphology, Cyanosis, Hypoxemia, Pulmonary hypoplasia, Recur... ORPHA:2257
X-Linked Intellectual Disability, Nascimento Type
Hypospadias, Low hanging columella, Patent foramen ovale, Vesicoureteral reflux, Abnormal vena ca... ORPHA:163956
Global Developmental Delay With Or Without Impaired Intellectual Development
Hypospadias, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect, Bulbous nose OMIM:618330
Digeorge Syndrome
Right aortic arch with mirror image branching, Recurrent sinusitis, Ovarian cyst, Splenomegaly, A... OMIM:188400
Miller-Dieker Syndrome
Short nose, Anteverted nares, Polyhydramnios, Nephropathy ORPHA:531
Zaki Syndrome
Wide nose, Anteverted nares, Patent foramen ovale, Hypoplasia of the phalanges of the toes, Renal... OMIM:619648
Linear Skin Defects With Multiple Congenital Anomalies 2
Short nose, Atrial septal defect, Ventricular hypertrophy, Tetralogy of Fallot OMIM:300887
Noonan Syndrome 11
Hypertrophic cardiomyopathy, Pulmonic stenosis, Atrial septal defect, Bulbous nose, Depressed nas... OMIM:618499
Neuronal Intestinal Pseudoobstruction
Congenital diaphragmatic hernia ORPHA:99811
Fliedner-Zweier Syndrome
Unilateral renal agenesis, Hypoplastic aortic arch, Hydronephrosis, Bicuspid aortic valve, Ventri... OMIM:620511
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Retrognathia, Short nose, Polyhydramnios, Hypothyroidism, Nephrocalcinosis, Limb undergrowth, Pat... OMIM:618005
Coenzyme Q10 Deficiency, Primary, 7
Hypoplastic left heart, Ventricular septal defect, Hypertrophic cardiomyopathy, Patent ductus art... OMIM:616276
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Short nose, Anteverted nares, Hypertrophic cardiomyopathy, Pulmonic stenosis, Carious teeth, Cryp... ORPHA:2701
Craniosynostosis, Herrmann-Opitz Type
Short nose, Abnormality of the upper urinary tract, Micromelia, Micrognathia, Malar flattening, C... ORPHA:2145
Nephrotic Syndrome, Type 11
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Nephrotic syndrome, Microg... OMIM:616730
Feingold Syndrome Type 1
Abnormality of the kidney, Tricuspid atresia, Interrupted aortic arch, Vesicoureteral reflux, Sho... ORPHA:391641
Gm1 Gangliosidosis Type 1
Increased urinary galactosylated oligosaccharide, Abnormal placenta morphology, Hydrops fetalis, ... ORPHA:79255
Wolcott-Rallison Syndrome
Neonatal insulin-dependent diabetes mellitus, Iron deficiency anemia, Lymphocytosis, Dehydration,... ORPHA:1667
Grange Syndrome
Short palm, Ventricular septal defect, Arterial stenosis, Patent ductus arteriosus ORPHA:79094
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Short nose, Perimembranous ventricular septal defect, Transposition of the great arteries, 11 pai... OMIM:617877
Temple-Baraitser Syndrome
Wide nose, Thick nasal alae, Pulmonic stenosis, Short distal phalanx of finger, Atrial septal def... OMIM:611816
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Polyhydramnios, Abnormal renal morphology, Pancreatic lymphangiectasis, Ascites, Cryptorchidism, ... ORPHA:1655
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Congenital diaphragmatic hernia, Pulmonary hypoplasia ORPHA:2141
Kagami-Ogata Syndrome
Retrognathia, Polyhydramnios, Anteverted nares, Pulmonic stenosis, Hypoplasia of the maxilla, Mic... OMIM:608149
Surfactant Metabolism Dysfunction, Pulmonary, 2
Ground-glass opacification, Intraalveolar phospholipid accumulation, Nonspecific interstitial pne... OMIM:610913
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Peripheral arterial stenosis, Patent ductus arteriosus, Varicose veins, Ventricular septal defect... OMIM:126320
Tarp Syndrome
Hypoplasia of the radius, Anteverted nares, Subdural hemorrhage, Wide nasal bridge, Short sternum... OMIM:311900
Williams-Beuren Region Duplication Syndrome
Decreased response to growth hormone stimulation test, Unilateral renal agenesis, Micrognathia, H... OMIM:609757
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Pulmonary artery atresia, Secundum atrial septal defect, Tetralogy of Fallot, Left ventricular hy... OMIM:108900
Chromosome 18Q Deletion Syndrome
Decreased response to growth hormone stimulation test, Hypospadias, Dysplastic pulmonary valve, A... OMIM:601808
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome
Pulmonic stenosis, Abnormal heart valve morphology, Mitral valve prolapse, Small hand ORPHA:2868
Distal Duplication 18Q
Short nose, Hypoplasia of penis, Anteverted nares, Choanal atresia, Thickened nuchal skin fold, C... ORPHA:1716
Fryns Syndrome
Polyhydramnios, Abnormal aortic arch morphology, Hypospadias, Anteverted nares, Vesicoureteral re... ORPHA:2059
Yuan-Harel-Lupski Syndrome
Wide nose, Aortic root aneurysm, Bicuspid aortic valve, Ventricular septal defect, Double outlet ... OMIM:616652
Skraban-Deardorff Syndrome
Anteverted nares, Right aortic arch, Micrognathia, Depressed nasal bridge, Ventricular septal def... OMIM:617616
Woods Syndrome
Ventricular septal defect, Supernumerary nipple, Wide nasal bridge, Low hanging columella OMIM:615236
Pulmonic Stenosis
Pulmonic stenosis OMIM:265500
Prune Belly Syndrome
Hydroureter, Hydronephrosis, Congenital posterior urethral valve, Patent ductus arteriosus, Crypt... OMIM:100100
Distal Deletion 15Q
Abnormal aortic arch morphology, Double outlet right ventricle with doubly committed ventricular ... ORPHA:1596
Immunodeficiency 42
Splenomegaly, Hypoplasia of the thymus OMIM:616622
Diamond-Blackfan Anemia
Normochromic anemia, Macrocytic dyserythropoietic anemia, Abnormal heart morphology, Absent thumb... ORPHA:124
8P Inverted Duplication/Deletion Syndrome
Retrognathia, Dextrocardia, Anteverted nares, Precocious puberty, Micrognathia, Hydronephrosis, T... ORPHA:96092
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Premature thelarche, Coarctation of aorta, Nodular goiter, Type I diabetes mellitus, Mitral valve... ORPHA:371428
German Syndrome
Lymphedema, Micrognathia, Tetralogy of Fallot, Cryptorchidism, Wide nasal bridge, Depressed nasal... ORPHA:2077
Distal Duplication 5Q
Hypoplasia of the ulna, Hypoplasia of the radius, Short nose, Dextrocardia, Hypospadias, Cryptorc... ORPHA:96097
Distal Triplication 15Q
Abnormality of the kidney, Retrognathia, Hypoplastic aortic arch, Polycystic kidney dysplasia, Mi... ORPHA:314588
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy
Increased variability in muscle fiber diameter, Macroglossia, Skeletal muscle atrophy OMIM:151800
Odontochondrodysplasia
Retrognathia, Short nose, Delayed eruption of teeth, Micromelia, Short palm, Dentinogenesis imper... ORPHA:166272
Autosomal Recessive Omodysplasia
Short nose, Rhizomelia, Anteverted nares, Micromelia, Increased nuchal translucency, Micrognathia... ORPHA:93329
Idiopathic Neonatal Atrial Flutter
Fetal distress, Hydrops fetalis, Maternal diabetes ORPHA:45452
Amyotrophic Lateral Sclerosis 20
Muscular dystrophy, Rimmed vacuoles, Muscle fiber inclusion bodies OMIM:615426
Congenital Anomalies Of Kidney And Urinary Tract 2
Hydroureter, Congenital megaureter, Renal hypoplasia, Ureteropelvic junction obstruction, Hydrone... OMIM:143400
Orofaciodigital Syndrome Xv
Anteverted nares, Hydronephrosis, Wide nasal bridge OMIM:617127
Diamond-Blackfan Anemia 7
Fetal distress, Polyhydramnios, Macrocytic anemia, Increased mean corpuscular volume, Vesicourete... OMIM:612562
Myopathic Ehlers-Danlos Syndrome
Ankle flexion contracture, Weakness of facial musculature, Foot joint contracture, Congenital mus... ORPHA:536516
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect OMIM:209770
Mitochondrial Myopathy And Sideroblastic Anemia
Delayed puberty, Short nose, Micrognathia, Anemia ORPHA:2598
Microcephaly-Capillary Malformation Syndrome
Short nose, Wide nose, Patent foramen ovale, Vesicoureteral reflux, Hypoplasia of the maxilla, Ri... OMIM:614261
Zellweger Syndrome
Hypospadias, Thickened nuchal skin fold, Cryptorchidism, Micrognathia, Hydronephrosis, Premature ... ORPHA:912
Congenital Megacalycosis
Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph... ORPHA:93109
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Aplasia/Hypoplasia of the distal phalanges of the toes, Mandibular prognathia, Ventricular septal... ORPHA:94066
Cardiac Diverticulum
Abnormal coronary artery origin, Aortic valve stenosis, Abnormal heart morphology, Aplasia/Hypopl... ORPHA:1686
Distal 7Q11.23 Microduplication Syndrome
Congenital diaphragmatic hernia ORPHA:261102
Toluene Embryopathy
Short nose, Micrognathia, Hydronephrosis, Abnormal localization of kidney, Hypoplasia of the zygo... ORPHA:1920
Penile Agenesis
Atrial septal defect, Short nose, Hydroureter, Maternal diabetes, Abnormality of the bladder, Bil... ORPHA:49
Hypomandibular Faciocranial Dysostosis
Hypoplasia of the maxilla, Micrognathia, Malar flattening, Choanal stenosis, Patent ductus arteri... OMIM:241310
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Hydrops fetalis, Polyhydramnios, Polycystic kidney dysplasia, Short ribs, Micromelia, Atrial sept... OMIM:616546
Autosomal Dominant Coarctation Of Aorta
Abnormal aortic arch morphology, Aortic arch aneurysm, Patent ductus arteriosus, Ventricular sept... ORPHA:1455
Monosomy 18Q
Pulmonary valve defects, Aortic aneurysm, Dysplastic pulmonary valve, Mandibular prognathia, Abse... ORPHA:1600
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Polyhydramnios, Ascites, Nonimmune hydrops fetalis, Hepatosplenomegaly, Abnormal cardiomyocyte mo... ORPHA:367
Atrial Septal Defect 1
Bicuspid aortic valve, Atrial septal dilatation, Aortic valve stenosis, Tetralogy of Fallot with ... OMIM:108800
Proximal Myopathy With Extrapyramidal Signs
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Centr... ORPHA:401768
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect OMIM:235750
Gaucher Disease Type 3
Delayed puberty, Hydrops fetalis, Hematuria, Anemia, Pancytopenia, Abnormal heart valve morpholog... ORPHA:77261
Genitopatellar Syndrome
Wide nose, Delayed eruption of teeth, Short palm, Micrognathia, Hydronephrosis, Patellar aplasia,... ORPHA:85201
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Short nose, Ureteral duplication, Polyhydramnios, Anteverted nares, Vesicoureteral reflux, Ureter... OMIM:614080
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Congenital diaphragmatic hernia, Abnormality of the diaphragm, Pulmonary hypoplasia OMIM:601163
Combined Oxidative Phosphorylation Deficiency 57
Central diabetes insipidus, Diabetes insipidus, Hypertrophic cardiomyopathy, Nephrogenic diabetes... OMIM:620167
Oculoauriculofrontonasal Syndrome
Wide nose, Bifid nasal tip, Micrognathia, Ventricular septal defect, Underdeveloped nasal alae ORPHA:398156
Periventricular Nodular Heterotopia 7
Short nose, Anteverted nares, Cryptorchidism, Micrognathia, Microretrognathia, Ventricular septal... OMIM:617201
Chromosome 6Q24-Q25 Deletion Syndrome
Atrial septal defect, Persistent fetal circulation, Dysplastic pulmonary valve, Anteverted nares,... OMIM:612863
Combined Oxidative Phosphorylation Deficiency 31
Increased variability in muscle fiber diameter, Left ventricular noncompaction, Increased intramy... OMIM:617228
Galloway-Mowat Syndrome 7
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Nephrotic syndrome, Microg... OMIM:618348
Fadd-Related Immunodeficiency
Ventricular septal defect, Pulmonary artery atresia ORPHA:306550
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Increased variability in muscle fiber diameter, Calf muscle hypertrophy, Pelvic girdle muscle wea... ORPHA:119
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hydrops fetalis, Hypospadias, Polycystic kidney dysplasia, Short ribs, Ascites, Renal cyst, Micro... OMIM:614091
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Increased variability in muscle fiber diameter OMIM:617915
Ullrich Congenital Muscular Dystrophy 1A
Muscular dystrophy, Reduced muscle collagen VI, Torticollis, Recurrent lower respiratory tract in... OMIM:254090
Aorta Coarctation
Perimembranous ventricular septal defect, Cardiomegaly, Hypoplastic aortic arch, Aortic valve atr... ORPHA:1457
Peroxisome Biogenesis Disorder 8A (Zellweger)
Ventricular septal defect OMIM:614876
Respiratory Distress Syndrome In Premature Infants
Pulmonary edema, Atelectasis OMIM:267450
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Polyhydramnios, Hydroureter, Fetal megacystis, Abnormal heart morphology, Hydronephrosis OMIM:619362
Combined Oxidative Phosphorylation Deficiency 42
Anemia, Cardiomyopathy, Premature birth, Nonimmune hydrops fetalis, Decreased circulating cortiso... OMIM:618839
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Single umbilical artery, Hypoplasia of penis, Micromelia, Cryptorchidism, Ventricular septal defe... ORPHA:2772
Mgat2-Cdg
Hydrops fetalis, Impaired lymphocyte transformation with phytohemagglutinin, Low hanging columell... ORPHA:79329
Koolen-De Vries Syndrome
Ureteral duplication, Hypospadias, Abnormal dental enamel morphology, Vesicoureteral reflux, Thic... ORPHA:96169
Combined Oxidative Phosphorylation Deficiency 40
Anemia, Hypertrophic cardiomyopathy, Premature birth, Nonimmune hydrops fetalis, Decreased circul... OMIM:618835
Meacham Syndrome
Situs inversus totalis, Transposition of the great arteries, Hypoplasia of penis, Ventricular sep... ORPHA:3097
Developmental Delay With Or Without Dysmorphic Facies And Autism
Short nose, Supernumerary nipple, Anteverted nares, Patent foramen ovale, Vesicoureteral reflux, ... OMIM:618454
Meacham Syndrome
Single umbilical artery, Enlarged kidney, Transposition of the great arteries, Partial anomalous ... OMIM:608978
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Muscular dystrophy, Atelectasis, Recurrent lower respiratory tract infections, Myositis, Facial p... ORPHA:258
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
Familial Nasal Acilia
Bronchiectasis, Atelectasis, Recurrent upper respiratory tract infections ORPHA:922
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
EMG: myopathic abnormalities, Increased variability in muscle fiber diameter, Fatty replacement o... ORPHA:397744
Mckusick-Kaufman Syndrome
Renal hypoplasia/aplasia, Patent ductus arteriosus, Glandular hypospadias, Urogenital sinus anoma... ORPHA:2473
Seizures, Benign Familial Infantile, 3
Cyanosis OMIM:607745
Mucopolysaccharidosis Type 7
Hydrops fetalis, Arteriovenous malformation, Lymphedema, Ascites, Mucopolysacchariduria, Splenome... ORPHA:584
Intellectual Disability, Buenos-Aires Type
Mandibular prognathia, Hydronephrosis, Dental malocclusion, Wide nasal bridge, Abnormal cardiac s... ORPHA:3079
Intellectual Developmental Disorder, Autosomal Dominant 47
Single umbilical artery, Ventricular septal defect, Increased nuchal translucency, Prominent nasa... OMIM:617635
Criss-Cross Heart
Transposition of the great arteries, Tricuspid stenosis, Pulmonic stenosis, Abnormal mitral valve... ORPHA:1461
Roifman Syndrome
Lymphadenopathy, Noncompaction cardiomyopathy, Anteverted nares, Underdeveloped nasal alae, Short... OMIM:616651
Combined Oxidative Phosphorylation Defect Type 27
Nonimmune hydrops fetalis ORPHA:477774
Adenylosuccinate Lyase Deficiency
Short nose, Anteverted nares ORPHA:46
Vesicoureteral Reflux 3
Polyhydramnios, Hydroureter, Recurrent urinary tract infections, Grade III vesicoureteral reflux,... OMIM:613674
Campomelia, Cumming Type
Hydrops fetalis, Multicystic kidney dysplasia, Lymphedema, Pancreatic cysts, Micromelia, Multiple... ORPHA:1318
Weill-Marchesani Syndrome
Pulmonic stenosis, Short thumb, Ventricular septal defect, Aortic valve stenosis ORPHA:3449
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Cryptorchidism, Hydronephrosis, Delayed eruption of teeth, Patent ductus arteriosus OMIM:619797
Congenital Heart Defects, Multiple Types, 3
Persistent left superior vena cava, Atrial septal defect, Abnormal heart morphology, Tetralogy of... OMIM:614954
Filippi Syndrome
Low hanging columella, Serrated incisors, Cryptorchidism, Ventricular septal defect, Wide nasal b... OMIM:272440
Acrodysostosis 2 With Or Without Hormone Resistance
Short nose, Short metatarsal, Hypospadias, Anteverted nares, Mandibular prognathia, Short metacar... OMIM:614613
Macdermot-Winter Syndrome
Hydronephrosis OMIM:247990
Li-Ghorbani-Weisz-Hubshman Syndrome
Prominent nasal bridge, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect... OMIM:618974
Takenouchi-Kosaki Syndrome
Unilateral renal agenesis, Hypospadias, Flared nostrils, Lymphedema, Cryptorchidism, Pulmonic ste... OMIM:616737
Baller-Gerold Syndrome
Short nose, Aplasia/Hypoplasia of the thumb, Narrow nasal bridge, Aplasia/Hypoplasia of the patel... ORPHA:1225
Seizures, Benign Familial Infantile, 1
Cyanosis OMIM:601764
Pierpont Syndrome
Short finger, Short nose, Wide nose, Short palm, Short toe, Malar flattening, Broad nasal tip, Cr... OMIM:602342
Baraitser-Winter Syndrome 1
Retrognathia, Short nose, Anteverted nares, Aortic valve stenosis, Patent ductus arteriosus, Bicu... OMIM:243310
Greenberg Dysplasia
Retrognathia, Short ribs, Short metacarpal, Bone marrow hypocellularity, Hypoplastic vertebral bo... OMIM:215140
Harel-Yoon Syndrome
Short nose, Mandibular prognathia, Micrognathia, Hypertrophic cardiomyopathy OMIM:617183
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Hypospadias, Low hanging columella, Anteverted nares, Patent foramen ovale, Cryptorchidism, Diabe... ORPHA:500159
Lessel-Kreienkamp Syndrome
Dental malocclusion, Patent foramen ovale, Pulmonic stenosis, Patent ductus arteriosus, Bicuspid ... OMIM:619149
Craniofacial-Deafness-Hand Syndrome
Short nose, Aplasia/Hypoplasia involving the nose, Depressed nasal ridge, Hypoplasia of the maxil... ORPHA:1529
Craniofacioskeletal Syndrome
Hypospadias, Interrupted aortic arch, Choanal atresia, Hypoplastic frontal sinuses, Cryptorchidis... OMIM:300712
10Q22.3Q23.3 Microduplication Syndrome
Tetralogy of Fallot, Hypospadias, Microretrognathia ORPHA:276422
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Perimembranous ventricular septal defect, Transposition of the great arteries, Muscular ventricul... OMIM:612474
Ciliary Dyskinesia, Primary, 20
Situs inversus totalis, Dextrocardia, Aortic valve stenosis, Pulmonary artery stenosis, Recurrent... OMIM:615067
Renal Dysplasia
Enlarged kidney, Renal hypoplasia/aplasia, Abnormal nephron morphology, Urinary incontinence, Ure... ORPHA:93108
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Renal tubular acidosis, Patent foramen ovale, Dehydration, Nephrogenic diabetes insipidus, Oligoh... OMIM:208085
Congenital Myopathy 4A, Autosomal Dominant
Type 1 fibers relatively smaller than type 2 fibers, Centrally nucleated skeletal muscle fibers, ... OMIM:255310
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the thymus, T lymphocyt... OMIM:300400
Interstitial Pneumonitis, Desquamative, Familial
Desquamative interstitial pneumonitis, Recurrent upper respiratory tract infections, Cyanosis, Ty... OMIM:263000
Thakker-Donnai Syndrome
Transposition of the great arteries, Anteverted nares, Hydronephrosis, Tetralogy of Fallot, Ventr... ORPHA:1780
Lowry-Maclean Syndrome
Retrognathia, Short nose, Atrioventricular canal defect, Hypospadias, Talon cusp, Choanal atresia... ORPHA:2409
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Urofacial Syndrome 1
Hydroureter, Urethral obstruction, Recurrent urinary tract infections, Enuresis, Hydronephrosis, ... OMIM:236730
Cenani-Lenz Syndactyly Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Ectopic kidney, Renal agenesis, Renal hypoplasi... OMIM:212780
Weiss-Kruszka Syndrome
Short nose, Anteverted nares, Dextrotransposition of the great arteries, Left ventricular hypertr... OMIM:618619
Yunis-Varon Syndrome
Absent sternal ossification, Short ribs, Cardiomyopathy, Aplasia of the 1st metacarpal, Aplasia/H... ORPHA:3472
Microform Holoprosencephaly
Short nose, Maternal diabetes, Hypoplasia of penis, Narrow nasal bridge, Anteverted nares, Panhyp... ORPHA:280200
16P12.1P12.3 Triplication Syndrome
Retrognathia, Short nose, Decreased response to growth hormone stimulation test, Abnormal tricusp... ORPHA:485405
Wolfram Syndrome 1
Hydroureter, Diabetes insipidus, Neurogenic bladder, Megaloblastic anemia, Cardiomyopathy, Hypoth... OMIM:222300
Chung-Jansen Syndrome
Short nose, Anteverted nares, Meconium stained amniotic fluid, Micrognathia, Cryptorchidism OMIM:617991
Chromosome 5Q12 Deletion Syndrome
Low hanging columella, Patent foramen ovale, Increased nuchal translucency, Micrognathia, Patent ... OMIM:615668
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Hematuria, Micrognathia, Natal tooth, Depressed nasal bridge, Proteinuria, Ventricular septal def... OMIM:616901
Atelis Syndrome 1
Anemia, Hypothyroidism, Carious teeth, Leukopenia, Thrombocytopenia, Prominent nose, Atrial septa... OMIM:620184
Renal And Mullerian Duct Hypoplasia
Short nose, Anteriorly displaced urethral meatus, Renal hypoplasia, Micrognathia, Horseshoe kidne... OMIM:266810
Fraser Syndrome 2
Unilateral renal agenesis, Wide nose, Bilateral renal agenesis, Aplasia of the bladder, Hypoplasi... OMIM:617666
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Renal salt wasting, Polyuria, Hydrops fetalis, Polyhydramnios, Decreased glomerular filtration ra... OMIM:602522
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Increased variability in muscle fiber diameter, Myopathy OMIM:125250
Timothy Syndrome
Single umbilical artery, Patent foramen ovale, Hypothyroidism, Tetralogy of Fallot, Patent ductus... OMIM:601005
Mucopolysaccharidosis, Type Vii
Hydrops fetalis, Abnormal heart valve morphology, Cardiomyopathy, Dermatan sulfate excretion in u... OMIM:253220
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Delayed puberty, 3-Methylglutaconic aciduria, Short nose, Mandibular prognathia, Hypertrophic car... ORPHA:496790
Orofaciodigital Syndrome Xvii
Retrognathia, Renal hypoplasia, Tetralogy of Fallot, Prominent nose, Short middle phalanx of the ... OMIM:617926
Pallister-Hall-Like Syndrome
Short nose, Anterior hypopituitarism, Short ribs, Micromelia, Micrognathia, Renal dysplasia, Micr... OMIM:241800
Farber Disease
Atelectasis, Diffuse reticular or finely nodular infiltrations, Flexion contracture, Skeletal mus... ORPHA:333
Supravalvular Aortic Stenosis
Pulmonic stenosis, Pulmonary artery stenosis, Peripheral arterial stenosis OMIM:185500
Chromosome 19Q13.11 Deletion Syndrome, Distal
Retrognathia, Single umbilical artery, Short nose, Hypospadias, Anteverted nares, Carious teeth, ... OMIM:613026
Weyers Ulnar Ray/Oligodactyly Syndrome
Hypoplasia of the radius, Finger aplasia, Micrognathia, Hydronephrosis, Mesomelia, Absent thumb, ... OMIM:602418
Thiamine-Responsive Megaloblastic Anemia Syndrome
Situs inversus totalis, Stroke, Cardiomyopathy, Cryptorchidism, Sideroblastic anemia, Diabetes me... OMIM:249270
Duane-Radial Ray Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Vascular dilatation, Vesicoureteral reflux, Ven... OMIM:607323
Mosaic Variegated Aneuploidy Syndrome 1
Short nose, Hypospadias, Multicystic kidney dysplasia, Wide nose, Anteverted nares, Leukemia, Ren... OMIM:257300
Lambert Syndrome
Ventricular septal defect, Hypospadias, Malar flattening ORPHA:1296
Cranioectodermal Dysplasia 2
Retrognathia, Hydrops fetalis, Rhizomelia, Polyhydramnios, Patent foramen ovale, Short ribs, Rena... OMIM:613610
Achondrogenesis, Type Ii
Hydrops fetalis, Polyhydramnios, Short ribs, Microretrognathia, Edema OMIM:200610
Pallister-Hall Syndrome
Ectopic kidney, Shortening of all distal phalanges of the fingers, Mesomelia, Decreased circulati... OMIM:146510
9Q21.13 Microdeletion Syndrome
Wide nasal ridge, Hydronephrosis, Abnormal heart morphology, Cryptorchidism ORPHA:531151
X-Linked Intellectual Disability, Schimke Type
Narrow nasal bridge, Hydronephrosis, Vesicoureteral reflux ORPHA:85285
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Anteverted nares, Patent foramen ovale, Prominent nasal tip, Micromelia, Increased nuchal translu... OMIM:618870
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Abnormality of the anterior pituitary, Anteverted nares, Pulmonary artery stenosis, Renal hypopla... ORPHA:75389
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Pulmonary Capillary Hemangiomatosis
Ground-glass opacification, Centrilobular ground-glass opacification on pulmonary HRCT, Pulmonary... ORPHA:199241
Tetraamelia Syndrome 2
Hypoplastic pulmonary veins, Amelia, Absent nipple, Micrognathia, Microretrognathia, Ventricular ... OMIM:618021
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Short nose, Patent foramen ovale, Mandibular prognathia, Cryptorchidism, Abnormal heart morpholog... ORPHA:369891
Intellectual Disability-Strabismus Syndrome
Short nose, Decreased response to growth hormone stimulation test, Polyhydramnios, Decreased seru... ORPHA:363528
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Single umbilical artery, Anteverted nares, Pulmonary artery atresia, Ventricular septal defect, S... OMIM:618164
Tracheobronchopathia Osteochondroplastica
Atelectasis, Bronchitis, Recurrent pneumonia, Pneumonia, Recurrent respiratory infections ORPHA:3348
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Short nose, Perimembranous ventricular septal defect, HbH hemoglobin, Hypochromic microcytic anem... OMIM:301040
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Bicuspid aortic valve, Hydroureter, Valvular pulmonary stenosis, Wide nose, Pelvic kidney, Patent... OMIM:300707
Severe X-Linked Intellectual Disability, Gustavson Type
Short nose, Vesicoureteral reflux, Micrognathia, Recurrent upper respiratory tract infections, Ve... ORPHA:3078
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Patent ductus arteriosus OMIM:617044
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Ventricular septal defect, Ectopic kidney, Cystic renal dysplasia, Cryptorchidism OMIM:613730
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Ureteral triplication, Absent nipple, Hydronephrosis, Mitral valve prolapse, Patent ductus arteri... OMIM:104350
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Bilateral cryptorchidism, Prominent nasal bridge, Patent ductus arteriosus,... OMIM:618652
Acromicric Dysplasia
Short nose, Anteverted nares, Short metacarpal, Short palm, Bulbous nose, Small hand ORPHA:969
Chromosome 15Q14 Deletion Syndrome
Atrial septal defect, Ventricular septal defect, Recurrent viral upper respiratory tract infections OMIM:616898
Keutel Syndrome
Wide nose, Underdeveloped nasal alae, Pulmonary artery stenosis, Recurrent sinusitis, Short dista... ORPHA:85202
Donnai-Barrow Syndrome
Short nose, Ventricular septal defect, Proteinuria, Depressed nasal bridge ORPHA:2143
Czeizel-Losonci Syndrome
Dextrocardia, Congenital megaureter, Hypoplastic nipples, Thickened nuchal skin fold, Micrognathi... ORPHA:2437
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Short nose, Anteverted nares, Short ribs, Limb undergrowth, Patent ductus arteriosus, Depressed n... OMIM:618961
Recurrent Respiratory Papillomatosis
Abnormal lung morphology, Recurrent pneumonia, Atelectasis, Recurrent upper respiratory tract inf... ORPHA:60032
Trigonocephaly With Short Stature And Developmental Delay
Convex nasal ridge, Ventricular septal defect, Wide nasal bridge OMIM:314320
Ciliary Dyskinesia, Primary, 30
Situs inversus totalis, Dextrocardia, Nasal congestion, Nasal polyposis, Ventricular septal defec... OMIM:616037
Urofacial Syndrome 2
Recurrent urinary tract infections, Vesicoureteral reflux, Enuresis, Urinary urgency, Hydronephro... OMIM:615112
Sarcoidosis, Susceptibility To, 2
Pneumothorax, Abnormal pulmonary interstitial morphology, Emphysema, Facial palsy, Pleural effusi... OMIM:612387
Braddock-Carey Syndrome 1
Multicystic kidney dysplasia, Anteverted nares, Enamel hypoplasia, Thrombocytopenia, Ventricular ... OMIM:619980
Alg8-Cdg
Hydrops fetalis, Anemia, Ascites, Premature birth, Thrombocytopenia, Edema, Oligohydramnios ORPHA:79325
Frontoocular Syndrome
Pulmonic stenosis, Atrial septal defect, Micrognathia, Prominent nasal bridge OMIM:605321
Cerebellar-Facial-Dental Syndrome
Anteverted nares, Ascending tubular aorta aneurysm, Cryptorchidism, Micrognathia, Ureteropelvic j... ORPHA:444072
Cap Myopathy
Lower limb amyotrophy, Facial palsy, Increased variability in muscle fiber diameter, Generalized ... ORPHA:171881
Developmental And Epileptic Encephalopathy 73
Short nose, Narrow nasal bridge OMIM:618379
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Coarctation of aorta, Subvalvular aortic stenosis, Complete atrioventricular canal defect OMIM:217085
Lambotte Syndrome
Convex nasal ridge, Retrognathia, Ventricular septal defect OMIM:245552
Axial Mesodermal Dysplasia Spectrum
Renal hypoplasia/aplasia, Renal cyst, Abnormality of the ureter, Missing ribs, Oligohydramnios, M... ORPHA:1834
Wolfram Syndrome, Mitochondrial Form
Hydroureter, Diabetes insipidus, Megaloblastic anemia, Sideroblastic anemia, Hydronephrosis, Thro... OMIM:598500
Schneckenbecken Dysplasia
Short nose, Polyhydramnios, Short ribs, Nonimmune hydrops fetalis, Limb undergrowth, Malar flatte... OMIM:269250
Potocki-Shaffer Syndrome
Short nose, Micropenis, Wide nasal bridge, Underdeveloped nasal alae OMIM:601224
6P22 Microdeletion Syndrome
Hydronephrosis, Patent ductus arteriosus ORPHA:251046
Congenital Disorder Of Glycosylation, Type Ia
Proximal tubulopathy, Cardiomyopathy, Renal cyst, Abnormality of the amniotic fluid, Nephrotic sy... OMIM:212065
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Abnormality of skeletal muscle fiber size, Chylothorax, Nemaline bodies, Joint contracture, Skele... OMIM:620278
Vacterl/Vater Association
Single umbilical artery, Polyhydramnios, Ectopic kidney, Hypospadias, Hypoplasia of penis, Abnorm... ORPHA:887
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Short nose, Anteverted nares, Micrognathia, Cryptorchidism, Wide nasal bridge OMIM:618577
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Increased size of the mandible, Increased mean platelet volume, Hydronephrosis, Thrombocytopenia,... OMIM:300048
Arthrogryposis Multiplex Congenita 6
Increased variability in muscle fiber diameter, Arthrogryposis multiplex congenita, Nemaline bodies OMIM:619334
Mitochondrial Trifunctional Protein Deficiency 1
Myoglobinuria, Dilated cardiomyopathy, Hydrops fetalis, Abnormality of the amniotic fluid OMIM:609015
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Convex nasal ridge, Ventricular septal defect, Wide nasal bridge ORPHA:3369
Coffin-Siris Syndrome 7
Single umbilical artery, Polyhydramnios, Wide nose, Anteverted nares, Patent foramen ovale, Thick... OMIM:618027
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Abnormality of the kidney, Perimembranous ventricular septal defect, Muscular ventricular septal ... ORPHA:363444
Long Qt Syndrome 3
Hydrops fetalis, Nonimmune hydrops fetalis OMIM:603830
Noonan Syndrome 8
Polyhydramnios, Patent ductus arteriosus, Pleural effusion, Hypertrophic cardiomyopathy, Pulmonic... OMIM:615355
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Micrognathia, Ventricular septal defect, Rhizomelia, Wide nasal bridge ORPHA:93267
Joubert Syndrome 35
Recurrent urinary tract infections, Anteverted nares, Renal fibrosis, Hydronephrosis, Multicystic... OMIM:618161
Cardiac Septal Defects With Coarctation Of The Aorta
Perimembranous ventricular septal defect, Secundum atrial septal defect OMIM:212090
Vater/Vacterl Association
Hypoplasia of the radius, Single umbilical artery, Transposition of the great arteries, Ectopic k... OMIM:192350
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Fetal distress, Bilateral fetal pyelectasis, Hydrops fetalis, Breech presentation, Polyhydramnios... OMIM:300868
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Recurrent urinary tract infections, Coarctation of aorta, Leukopenia, Splenomegaly, Lymphopenia, ... OMIM:620210
Myoclonus, Intractable, Neonatal
Increased variability in muscle fiber diameter OMIM:617235
Phocomelia, Schinzel Type
Aplasia/Hypoplasia of the sacrum, Hypoplasia of the radius, Fibular aplasia, Aplasia of the ulna,... ORPHA:2879
Microcephaly 26, Primary, Autosomal Dominant
Short nose, Patent foramen ovale, Hydronephrosis, Prominent nasal bridge, Wide nasal bridge OMIM:619179
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Pulmonic stenosis, Secundum atrial septal defect OMIM:178650
Melnick-Needles Syndrome
Craniofacial hyperostosis, Delayed eruption of teeth, Short clavicles, Vesicoureteral reflux, Mic... ORPHA:2484
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Spinal muscular atrophy, Increased variability in muscle fiber diameter, Muscle fiber atrophy, Ge... OMIM:616866
Phosphoribosylaminoimidazole Carboxylase Deficiency
Short nose, Polyhydramnios, Bilateral choanal atresia, Anteverted nares, Choanal atresia, Missing... OMIM:619859
C Syndrome
Short nose, Renal cortical cysts, Anteverted nares, Short metacarpal, Micromelia, Cryptorchidism,... OMIM:211750
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Hydrops fetalis, Disproportionate shortening of the tibia, Polycystic kidney dysplasia, Short rib... OMIM:263520
Pseudotrisomy 13 Syndrome
Tricuspid atresia, Dextrocardia, 11 pairs of ribs, Adrenal hypoplasia, Cryptorchidism, Renal agen... OMIM:264480
Pulmonary Alveolar Proteinosis, Acquired
Lung abscess, Intraalveolar phospholipid accumulation, Hypoxemia, Pneumonia, Recurrent respirator... OMIM:610910
Noonan Syndrome 9
Hydroureter, Cryptorchidism, Pulmonic stenosis, Coarctation of aorta, Ventricular septal defect OMIM:616559
Developmental Delay, Language Impairment, And Ocular Abnormalities
Pulmonic stenosis, Hydronephrosis OMIM:620141
Seckel Syndrome 9
Polyhydramnios, Recurrent urinary tract infections, Pulmonary artery hypoplasia, Micrognathia, De... OMIM:616777
Rhizomelic Dysplasia, Patterson-Lowry Type
Short nose, Rhizomelia, Wide nose, Mandibular prognathia, Short metacarpal, Depressed nasal ridge... ORPHA:2831
Hypophosphatemic Rickets, Autosomal Recessive, 2
Medullary nephrocalcinosis, Pulmonic stenosis, Hyperphosphaturia, Carious teeth, Hypoplasia of teeth OMIM:613312
Hoxha-Aliu Syndrome
Perimembranous ventricular septal defect, Absent fifth metatarsal, Short fifth metatarsal, Vesico... OMIM:620662
Diaphanospondylodysostosis
Short nose, Enlarged kidney, Nephroblastomatosis, Missing ribs, Increased nuchal translucency, De... OMIM:608022
Creatine Phosphokinase, Elevated Serum
Muscular dystrophy, Inflammatory myopathy, EMG: myopathic abnormalities, Abnormal muscle fiber mo... OMIM:123320
Melanocytic Nevus Syndrome, Congenital
Short nose, Narrow nasal ridge, Anteverted nares, Broad nasal tip, Prominence of the premaxilla OMIM:137550
Noonan Syndrome 6
Single umbilical artery, Juvenile myelomonocytic leukemia, Polyhydramnios, Hypertrophic cardiomyo... OMIM:613224
Mandibulofacial Dysostosis, Guion-Almeida Type
Short nose, Anteverted nares, Choanal atresia, Micrognathia, Malar flattening, Atrial septal defe... OMIM:610536
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Hydrops fetalis, Retinal arterial tortuosity, Splenic cyst, Anteverted nares, Patent foramen oval... OMIM:620371
Noonan Syndrome 3
Short nose, Tricuspid valve prolapse, Polyhydramnios, Juvenile myelomonocytic leukemia, Anteverte... OMIM:609942
Congenital Disorder Of Glycosylation, Type Iie
Retrognathia, Perimembranous ventricular septal defect, Short nose, Wide nose, Neurogenic bladder... OMIM:608779
Joubert Syndrome 18
Retrognathia, Ventricular septal defect, Horseshoe kidney, Renal cyst OMIM:614815
Intellectual Developmental Disorder, Autosomal Dominant 48
Hypospadias, Low hanging columella, Anteverted nares, Echogenic intracardiac focus, Prominent nas... OMIM:617751
Aortic Valve Disease 2
Calcification of the aorta, Aortic aneurysm, Patent foramen ovale, Aortic tortuosity, Pulmonic st... OMIM:614823
Distal Duplication 6P
Renal hypoplasia, Micrognathia, Hydronephrosis, Prominent nasal bridge, Abnormality of the urinar... ORPHA:1745
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Short nose, Mandibular prognathia ORPHA:2429
Cryptogenic Organizing Pneumonia
Ground-glass opacification, Pneumothorax, Parenchymal consolidation, Hypoxemia, Cyanosis ORPHA:1302
Mandibulofacial Dysostosis-Microcephaly Syndrome
Short nose, Hypoplasia of the maxilla, Micrognathia, Malar flattening, Atrial septal defect ORPHA:79113
Charge Syndrome
Delayed puberty, Anosmia, Absent tibia, Pulmonic stenosis, Dysplastic tricuspid valve, Absent rad... OMIM:214800
Trisomy 8P
Retrognathia, Short nose, Annular pancreas, Abnormal left ventricle morphology, Anteverted nares,... ORPHA:264450
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Retrognathia, Short nose, Micrognathia, Patent ductus arteriosus, Atrial septal defect, Ventricul... OMIM:617061
Ciliary Dyskinesia, Primary, 53
Situs inversus totalis, Perimembranous ventricular septal defect, Patent foramen ovale, Right aor... OMIM:620642
Kury-Isidor Syndrome
Anteverted nares, Hydronephrosis, Ventricular septal defect OMIM:619762
Hinman Syndrome
Recurrent urinary tract infections, Vesicoureteral reflux, Enuresis, Hydronephrosis, Renal insuff... ORPHA:84085
Aminopterin/Methotrexate Embryofetopathy
Situs inversus totalis, Aplasia/Hypoplasia of the thumb, Mandibular prognathia, Pulmonary artery ... ORPHA:1908
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cryptorchidism, Tetralogy of Fallot, Hypospadias, Hypoplasia of penis ORPHA:1381
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Abnormality of thyroid physiology, Unilateral breast hypoplasia, Choanal atresia, Prominent nose,... OMIM:300968
Breath-Holding Spells
Cyanosis OMIM:607578
Al-Raqad Syndrome
Short nose, Atrial septal defect OMIM:616459
Kleefstra Syndrome Due To 9Q34 Microdeletion
Short nose, Hypoplasia of penis, Anteverted nares, Vesicoureteral reflux, Abnormal testis morphol... ORPHA:96147
Eosinophilic Fasciitis
Myositis, Muscular edema, Acrocyanosis ORPHA:3165
Fatty Acyl-Coa Reductase 1 Deficiency
Short nose, Depressed nasal bridge ORPHA:438178
Inverted Duplicated Chromosome 15 Syndrome
Unilateral renal agenesis, Cryptorchidism, Precocious puberty, Broad nasal tip, Tetralogy of Fall... ORPHA:3306
Cat-Eye Syndrome
Renal hypoplasia/aplasia, Hydronephrosis, Abnormal localization of kidney ORPHA:195
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Aplasia of the distal phalanx of the 2nd finger, Unilateral renal agenesis, Abnormal cardiac sept... OMIM:308050
High Altitude Pulmonary Edema
Pulmonary edema, Hypoxemia, Cyanosis, Pulmonary opacity ORPHA:330012
Chromosome 6Q11-Q14 Deletion Syndrome
Short nose, Bilateral cryptorchidism, Micrognathia, Prominent nasal bridge, Broad nasal tip OMIM:613544
Oligomeganephronia
Abnormal nephron morphology, Decreased glomerular filtration rate, Unilateral renal agenesis, Abn... ORPHA:2260
Frank-Ter Haar Syndrome
Dental malocclusion, Anteverted nares, Patent foramen ovale, Short palm, Micrognathia, Secundum a... OMIM:249420
Igg4-Related Aortitis
Abnormal aortic arch morphology, Thoracic aortic aneurysm, Ascending tubular aorta aneurysm, Aort... ORPHA:449400
Hypomandibular Faciocranial Dysostosis
Short nose, Polyhydramnios, Anteverted nares, Maxillozygomatic hypoplasia, Choanal stenosis, Pate... ORPHA:1790
Degcags Syndrome
Retrognathia, Breech presentation, Abnormal spleen morphology, Pulmonic stenosis, Premature birth... OMIM:619488
Congenital Heart Defects And Skeletal Malformations Syndrome
Long nose, Short nose, Hypospadias, Aortic root aneurysm, Cryptorchidism, Carious teeth, Coarctat... OMIM:617602
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis ORPHA:71277
Encephalocraniocutaneous Lipomatosis
Pelvic kidney, Cryptorchidism, Hydronephrosis, Atrial septal defect, Ventricular septal defect, P... OMIM:613001
Sarcosinemia
Pulmonic stenosis, Hypersarcosinuria, Hypertrophic cardiomyopathy ORPHA:3129
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Short nose, Vascular dilatation, Wide nose, Anteverted nares, Short ribs, Micromelia, Cardiomegal... OMIM:613320
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Nephroblastoma, Leukemia, Ventricular septal defect, Depressed nasal bridge OMIM:602501
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Ankle flexion contracture, Limb joint contracture, Cyanotic episode, Knee flexion contracture ORPHA:284417
Craniofacial Dyssynostosis With Short Stature
Hypospadias, Cryptorchidism, Malar flattening, Patent ductus arteriosus, Ventricular septal defec... OMIM:218350
Chondrodysplasia Punctata 1, X-Linked Recessive
Short nose, Short nasal septum, Anosmia, Hypogonadism, Short distal phalanx of finger, Depressed ... OMIM:302950
Fg Syndrome 5
Short nose, Anteverted nares, Hypospadias, Depressed nasal bridge OMIM:300581
Holoprosencephaly 13, X-Linked
Patent foramen ovale, Micrognathia, Aplasia of the nose, Patent ductus arteriosus, Double outlet ... OMIM:301043
Craniodigital-Intellectual Disability Syndrome
Short nose, Micrognathia, Narrow nasal bridge ORPHA:1514
Transaldolase Deficiency
Anemia, Pancytopenia, Patent foramen ovale, Coarctation of aorta, Hepatosplenomegaly, Splenomegal... OMIM:606003
17P13.3 Microduplication Syndrome
Short nose, Wide nose, Hypoplasia of penis ORPHA:217385
Hemochromatosis, Neonatal
Oligohydramnios, Nonimmune hydrops fetalis OMIM:231100
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Short nose, Micrognathia ORPHA:1495
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Atrioventricular canal defect, Abnormal bladder morphology, Vesicoureteral reflux, Ascending tubu... ORPHA:453499
Isotretinoin-Like Syndrome
Abnormal aortic arch morphology, Abnormal cardiac ventricle morphology, Anteverted nares, Abnorma... ORPHA:2306
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Anteverted nares, Thickened nuchal skin fold, Renal agenesis, Increased urine alpha-ketoglutarate... OMIM:220500
Congenital Disorder Of Glycosylation, Type Iiaa
Persistent patent ductus venosus, Unilateral renal agenesis, Hydronephrosis, Patent ductus arteri... OMIM:620454
Presynaptic Congenital Myasthenic Syndromes
Distal lower limb muscle weakness, Cyanosis, Frontalis muscle weakness, Distal amyotrophy, EMG: m... ORPHA:98914
Congenital Myasthenic Syndrome
Distal lower limb muscle weakness, Cyanosis, Frontalis muscle weakness, Distal amyotrophy, EMG: m... ORPHA:590
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Ground-glass opacification, Hypersensitivity pneumonitis, Emphysema, Honeycomb lung, Diffuse reti... ORPHA:79127
Char Syndrome
Short middle phalanx of the 5th finger, Depressed nasal ridge, Persistence of primary teeth, Mala... ORPHA:46627
Joubert Syndrome 37
Wide nose, Anteverted nares, Decreased testicular size, Hydronephrosis, Cryptorchidism, Micropeni... OMIM:619185
Galactosialidosis
Nonimmune hydrops fetalis, Cherry red spot of the macula, Hepatosplenomegaly OMIM:256540
Amyotrophic Lateral Sclerosis 21
Distal lower limb muscle weakness, Rimmed vacuoles, Hand muscle weakness, Increased variability i... OMIM:606070
Chronic Pneumonitis Of Infancy
Ground-glass opacification, Diffuse reticular or finely nodular infiltrations, Hypoxemia, Cyanosis ORPHA:91359
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Short nose OMIM:245570
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Ventricular septal defect, Persistence of hemoglobin F, Persistence of primary teeth, Patent duct... OMIM:619769
Treacher-Collins Syndrome
Retrognathia, Abnormality of the adrenal glands, Hypoplasia of penis, Abnormal dental enamel morp... ORPHA:861
Ohdo Syndrome
Short nose, Anteverted nares, Hypoplasia of teeth, Micrognathia, Proteinuria, Cryptorchidism, Wid... OMIM:249620
Femoral-Facial Syndrome
Short nose, Renal hypoplasia/aplasia, Maternal diabetes, Long penis, Polycystic kidney dysplasia,... ORPHA:1988
X-Linked Lissencephaly With Abnormal Genitalia
Hypoplasia of penis, Cryptorchidism, Micrognathia, Patent ductus arteriosus, Ventricular septal d... ORPHA:452
Peho Syndrome
Retrognathia, Short nose, Edema of the dorsum of hands, Edema, Edema of the dorsum of feet OMIM:260565
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Transposition of the great arteries, Duplicated collecting system, Delayed eruption of teeth, Hyp... OMIM:280000
Giant Cell Arteritis
Hematuria, Recurrent pharyngitis, Mediastinal lymphadenopathy, Diabetes insipidus, Vasculitis, Do... ORPHA:397
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
11 pairs of ribs, Narrow nasal bridge, Low hanging columella, Cryptorchidism, Precocious puberty,... OMIM:620073
Combined Immunodeficiency-Enteropathy Spectrum
Autoimmune hemolytic anemia, Polyhydramnios, Abnormal ductus choledochus morphology, Hypoplasia o... ORPHA:436252
Baraitser-Winter Cerebrofrontofacial Syndrome
Retrognathia, Palpebral edema, Long nose, Hydroureter, Wide nose, Transient ischemic attack, Abno... ORPHA:2995
Mosaic Variegated Aneuploidy Syndrome 2
Short nose, Decreased response to growth hormone stimulation test, Rhizomelia, Bulbous nose, Hypo... OMIM:614114
Mesomelia-Synostoses Syndrome
Micromelia, Micrognathia, Hydronephrosis, Mesomelia, Malar flattening, Convex nasal ridge, Bulbou... ORPHA:2496
Multifocal Atrial Tachycardia
Hypertrophic cardiomyopathy, Cryptorchidism, Pulmonic stenosis, Hypothyroidism, Left ventricular ... ORPHA:3282
Pericardial And Diaphragmatic Defect
Congenital diaphragmatic hernia, Pulmonary sequestration, Aplasia of the left hemidiaphragm, Hypo... ORPHA:2847
Trisomy 12P
Short nose, Supernumerary nipple, Thickened nuchal skin fold, Micrognathia, Malar flattening, Abn... ORPHA:1699
ERI1-related disease
Vesicoureteral reflux, Micrognathia, Hydronephrosis, Limb undergrowth, Abnormal heart morphology,... OMIM:608739
Neurofibromatosis-Noonan Syndrome
Pulmonic stenosis, Abnormality of the lymphatic system, Cryptorchidism, Hypertrophic cardiomyopathy ORPHA:638
Snijders Blok-Campeau Syndrome
Perimembranous ventricular septal defect, Pulmonic stenosis, Enamel hypoplasia, Prominent nose, A... OMIM:618205
Anemia, Congenital Dyserythropoietic, Type Ia
Hydrops fetalis, Anemia of inadequate production, Macrocytic dyserythropoietic anemia, Bite cells... OMIM:224120
Diamond-Blackfan Anemia 10
Anemia, Ectopic kidney, Macrocytic anemia, Reticulocytopenia, Choanal atresia, Micrognathia, Rena... OMIM:613309
Phosphoserine Aminotransferase Deficiency
Cyanotic episode OMIM:610992
Tyshchenko Syndrome
Polyhydramnios, Cryptorchidism, Pulmonic stenosis, Premature birth, Atrial septal defect, Ventric... OMIM:615102
Congenital Disorder Of Glycosylation, Type Iig
Hemolytic-uremic syndrome, Hypospadias, Rhizomelia, Giant platelets, Anemia, Anteverted nares, Mi... OMIM:611209
Thiamine-Responsive Megaloblastic Anemia Syndrome
Megaloblastic anemia, Stroke, Diabetes mellitus, Thrombocytopenia, Atrial septal defect, Ventricu... ORPHA:49827
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Retrognathia, Short nose, Anteverted nares, B lymphocytopenia, Recurrent upper respiratory tract ... OMIM:614069
Pearson Syndrome
Cardiomyopathy, Reticulocytosis, Bone marrow hypocellularity, Abnormal heart morphology, Splenome... ORPHA:699
Diamond-Blackfan Anemia 5
Erythroid hypoplasia, Hypospadias, Macrocytic anemia, Reticulocytopenia, Leukopenia, Ventricular ... OMIM:612528
Brachytelephalangic Chondrodysplasia Punctata
Short nose, Short distal phalanx of toe, Vertebral hypoplasia, Nasal congestion, Hypoplasia of th... ORPHA:79345
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Patent foramen ovale, Hydronephrosis, Patent ductus arteriosus, Atrial septal defect, Cryptorchidism OMIM:620327
Otopalatodigital Syndrome Type 2
Fibular aplasia, Short nose, Hypospadias, Short hallux, Abnormal heart valve morphology, Hypoplas... ORPHA:90652
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Short nose, Decreased response to growth hormone stimulation test, Hypospadias, Hypercalciuria, A... OMIM:614732
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Hypospadias, Recurrent urinary tract infections, Neurogenic bladder, Vesicoureteral reflux, Hydro... OMIM:191800
Khan-Khan-Katsanis Syndrome
Short nose, Ureteral duplication, Anemia, Patent foramen ovale, Vesicoureteral reflux, Bilateral ... OMIM:618460
Surfactant Metabolism Dysfunction, Pulmonary, 1
Ground-glass opacification, Intraalveolar phospholipid accumulation, Interlobular septal thickeni... OMIM:265120
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Short nose, Micrognathia, Cryptorchidism, Slender nose OMIM:615419
Developmental And Epileptic Encephalopathy 66
Anemia, Dextrocardia, Cryptorchidism, Macrodontia of permanent maxillary central incisor, Atrial ... OMIM:618067
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Short nose, Abnormal B cell morphology, Hypospadias, Cryptorchidism, Depressed nasal bridge OMIM:616910
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Aplasia/Hypoplasia of the radius, Hypoplastic left heart ORPHA:2476
Robinow Syndrome, Autosomal Recessive 2
Short nose, Anteverted nares, Micrognathia, Mesomelia, Broad nasal tip, Bicuspid aortic valve, Wi... OMIM:618529
Cardiac-Urogenital Syndrome
Enlarged kidney, Mesocardia, Coronary sinus enlargement, Dysplastic tricuspid valve, Accessory sp... OMIM:618280
Microlissencephaly-Micromelia Syndrome
Short nose, Palpebral edema, Polyhydramnios, Abnormal circulating calcium-phosphate regulating ho... ORPHA:50810
Congenital Gerbode Defect
Perimembranous ventricular septal defect, Abnormal tricuspid valve leaflet morphology, Bacterial ... ORPHA:99095
Greig Cephalopolysyndactyly Syndrome
Congenital diaphragmatic hernia ORPHA:380
Chiari Malformation Type Ii
Cyanosis, Limb muscle weakness OMIM:207950
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Short nose, Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentrat... OMIM:613038
3P25.3 Microdeletion Syndrome
Acromesomelia, Coronary artery atherosclerosis, Anteverted nares, Mandibular prognathia, Pulmonic... ORPHA:435638
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Polyhydramnios, Unilateral renal agenesis, Hypospadias, Pelvic kidney, Renal cyst, Cryptorchidism... ORPHA:464311
Au-Kline Syndrome
Retrognathia, Single umbilical artery, Short nose, Breech presentation, Aortic root aneurysm, Ves... OMIM:616580
Leopard Syndrome 1
Delayed puberty, Unilateral renal agenesis, Hypospadias, Hyposmia, Hypoplasia of the ovary, Mandi... OMIM:151100
Basel-Vanagaite-Smirin-Yosef Syndrome
Retrognathia, Hypospadias, Anteverted nares, Hydronephrosis, Atrial septal defect, Ventricular se... OMIM:616449
Eec Syndrome
Decreased response to growth hormone stimulation test, Renal hypoplasia/aplasia, Hypospadias, Ant... ORPHA:1896
Diamond-Blackfan Anemia 12
Elevated red cell adenosine deaminase activity, Normochromic anemia, Macrocytic anemia, Reticuloc... OMIM:615550
Diaphragmatic Hernia 2
Congenital diaphragmatic hernia, Agenesis of the diaphragm OMIM:222400
Chondrodysplasia With Joint Dislocations, Gpapp Type
Short nose, Short metacarpal, Micrognathia, Short toe, Limb undergrowth, Wide nasal bridge, Short... OMIM:614078
Ochoa Syndrome
Urinary incontinence, Urethral obstruction, Recurrent urinary tract infections, Vesicoureteral re... ORPHA:2704
Fixed Subaortic Stenosis
Atrioventricular canal defect, Cardiomegaly, Patent ductus arteriosus, Bacterial endocarditis, As... ORPHA:3092
Developmental And Epileptic Encephalopathy 75
Anteverted nares, Short nose, Cardiomyopathy, Wide nasal bridge OMIM:618437
Pde4D Haploinsufficiency Syndrome
Short nose, Elevated circulating parathyroid hormone level, Short metatarsal, Hypospadias, Upper ... ORPHA:439822
46,Xy Sex Reversal 4
Anteverted nares, Depressed nasal ridge, Prominent nose, Hypergonadotropic hypogonadism, Microgna... OMIM:154230
Micro Syndrome
Delayed puberty, Short nose, Hypoplasia of penis, Anteverted nares, Micrognathia, Hydronephrosis,... ORPHA:2510
Mosaic Trisomy 16
Abnormality of the nose, Single umbilical artery, Large placenta, Maternal diabetes, Hypospadias,... ORPHA:1708
Trisomy X
Renal hypoplasia/aplasia, Precocious puberty, Atrial septal defect, Ventricular septal defect, Mu... ORPHA:3375
Congenital Disorder Of Glycosylation, Type Iil
Retrognathia, Unilateral renal agenesis, Pancytopenia, Proximal tubulopathy, Peau d'orange, Ename... OMIM:614576
Acrocallosal Syndrome
Congenital diaphragmatic hernia ORPHA:36
Congenital Myopathy 22B, Severe Fetal
Retrognathia, Short nose, Polyhydramnios, Breech presentation, Pleural effusion, Ascites, Microgn... OMIM:620369
Marfanoid Habitus With Situs Inversus
Situs inversus totalis, Aortic root aneurysm, Mandibular prognathia, Pulmonic stenosis, Mitral va... OMIM:609008
Intellectual Developmental Disorder, Autosomal Recessive 71
Ventricular septal defect, Micropenis, Unilateral renal agenesis, Cryptorchidism OMIM:618504
Koolen-De Vries Syndrome
Aortic root aneurysm, Recurrent urinary tract infections, Pear-shaped nose, Vesicoureteral reflux... OMIM:610443
Fibrochondrogenesis 2
Short nose, Anteverted nares, Short ribs, Micrognathia, Malar flattening OMIM:614524
Diamond-Blackfan Anemia 8
Short nose, Macrocytic anemia, Increased mean corpuscular volume, Wide nasal bridge, Neutropenia OMIM:612563
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Ventricular septal defect, Elevated urine 2,3-dihydroxy-2-methylbutanoic acid level, Hypertrophic... OMIM:616277
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Short nose, Hypospadias, Anteverted nares, Cardiomyopathy, Short palm, Micrognathia, Patent ductu... OMIM:217980
Fetal Valproate Spectrum Disorder
Short nose, Depressed nasal ridge ORPHA:1906
Pelger-Huet Anomaly
Short 4th metacarpal, Abnormality of neutrophils, Giant platelets, Upper limb undergrowth, Hypose... OMIM:169400
King-Denborough Syndrome
Breech presentation, Low hanging columella, Bilateral cryptorchidism, Cryptorchidism, Broad nasal... OMIM:619542
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome
Short nose, Hypoplasia of the zygomatic bone, Malar flattening, Depressed nasal bridge ORPHA:2835
Microphthalmia, Syndromic 2
Supernumerary tooth, Hypospadias, Hypoplastic aortic arch, Dextrocardia, Delayed eruption of teet... OMIM:300166
Trichothiodystrophy 4, Nonphotosensitive
Retrognathia, Short nose, Anteverted nares, Hypoplasia of teeth, Ventricular septal defect OMIM:234050
Monosomy 13Q34
Pulmonic stenosis, Common atrium, Micrognathia, Fetal pyelectasis, Epistaxis, Broad nasal tip, Pr... ORPHA:96168
Smith-Magenis Syndrome
Decreased fetal movement, Short nose, Delayed puberty, Renal hypoplasia/aplasia, Anteverted nares... ORPHA:819
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Diastasis recti, Polyhydramnios, Abnormal heart morphology, Ventricular septal defect ORPHA:254534
Fanconi Anemia, Complementation Group I
Hypoplasia of the radius, Decreased response to growth hormone stimulation test, Abnormal renal m... OMIM:609053
Teebi Hypertelorism Syndrome 2
Short nose, Hypospadias, Delayed eruption of teeth, Broad nasal tip, Depressed nasal bridge OMIM:619736
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Anemia, Hypospadias, Interrupted aortic arch, Choanal atresia, Overhanging nasal tip, Cryptorchid... ORPHA:163979
Opitz Gbbb Syndrome
Hypospadias, Aortic root aneurysm, Anteverted nares, Patent foramen ovale, Vesicoureteral reflux,... ORPHA:2745
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Ragged-red muscle fibers, Facial palsy, EMG: myopathic abnormalities, Muscle fiber necrosis, Incr... OMIM:258450
Ververi-Brady Syndrome
Single umbilical artery, Transposition of the great arteries, Wide nose, Broad nasal tip, Promine... OMIM:617982
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Short nose, Abnormal heart morphology, Microretrognathia, Renal dysplasia, Bulbous nose, Wide nas... OMIM:618571
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Retrognathia, Ventricular hypertrophy, Pulmonic stenosis, Leukopenia, Lymphopenia, Bicuspid aorti... OMIM:620654
Cardiofaciocutaneous Syndrome 1
Short nose, Polyhydramnios, Dental malocclusion, Anteverted nares, Hypertrophic cardiomyopathy, P... OMIM:115150
Robinow Syndrome, Autosomal Dominant 3
Short nose, Dental malocclusion, Anteverted nares, Patent foramen ovale, Vesicoureteral reflux, P... OMIM:616894
Typical Nemaline Myopathy
Facial diplegia, Facial palsy, Nemaline bodies, Arthrogryposis multiplex congenita, Limb-girdle m... ORPHA:171436
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Short nose, Urinary incontinence, Eruption failure, Aplasia of the 1st metacarpal, Short palm, Mi... ORPHA:476126
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Glomerulopathy, Hydrops fetalis, Hemolytic-uremic syndrome, Neutropenia, Stroke, Megaloblastic an... ORPHA:79282
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Short nose, Anteverted nares, Micrognathia, Bulbous nose, Wide nasal bridge OMIM:613604
Noonan Syndrome 5
Polyhydramnios, Mandibular prognathia, Hypertrophic cardiomyopathy, Pulmonic stenosis, Atrial sep... OMIM:611553
Autosomal Recessive Robinow Syndrome
Supernumerary tooth, Short nose, Abnormal tricuspid valve morphology, Hypoplasia of penis, Anteve... ORPHA:1507
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Abnormality of the endocrine system, Abnormal vena cava morphology, Short metacarpal, Renal cyst,... ORPHA:166035
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
Absent toe, Vesicoureteral reflux, Finger aplasia, Short palm, Micrognathia, Hydronephrosis, Hypo... OMIM:620663
Isotretinoin Embryopathy-Like Syndrome
Micrognathia, Conotruncal defect OMIM:243440
Osteogenesis Imperfecta, Type Ii
Convex nasal ridge, Nonimmune hydrops fetalis, Premature birth, Limb undergrowth OMIM:166210
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Single umbilical artery, Abnormal renal morphology, Patent foramen ovale, Cryptorchidism, Patent ... ORPHA:329224
Congenital Fibrinogen Deficiency
Cyanosis, Right ventricular hypertrophy, Left ventricular hypertrophy, Bruising susceptibility, S... ORPHA:335
Jansen-De Vries Syndrome
Anteverted nares, Bicuspid aortic valve, Ventricular septal defect, Short foot, Small hand OMIM:617450
Rhizomelic Syndrome, Urbach Type
Rhizomelia, Pulmonic stenosis, Micrognathia, Short distal phalanx of finger, Depressed nasal bridge ORPHA:3098
Marden-Walker Syndrome
Epispadias, Abnormality of the kidney, Situs inversus totalis, Renal hypoplasia/aplasia, Hydroure... ORPHA:2461
Desbuquois Syndrome
Anteverted nares, Ventricular septal defect, Depressed nasal bridge, Small hand ORPHA:1425
Tarp Syndrome
Anteverted nares, Extramedullary hematopoiesis, Short sternum, Micrognathia, Hydronephrosis, Tetr... ORPHA:2886
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Short nose, Vesicoureteral reflux, Shortening of all distal phalanges of the fingers, Broad nasal... OMIM:614749
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Arteria lusoria, Anomalous origin of left pulmonary artery from ascending aorta, Transposition of... ORPHA:99050
Isolated Anencephaly
Congenital diaphragmatic hernia ORPHA:563609
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Hypoplasia of the ulna, Short nose, Hydroureter, Hypercalciuria, Anteverted nares, Restrictive ca... OMIM:615398
Filippi Syndrome
Wide nose, Cryptorchidism, Broad columella, Prominent nasal bridge, Ventricular septal defect, Su... ORPHA:3255
Prolidase Deficiency
Short nose, Anemia, Hyperimidodipeptiduria, Micrognathia, Depressed nasal bridge, Splenomegaly, T... OMIM:170100
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Ventricular septal defect ORPHA:357225
Pyruvate Kinase Deficiency Of Red Cells
Chronic hemolytic anemia, Reduced red cell pyruvate kinase level, Cholelithiasis, Reticulocytosis... OMIM:266200
Cardiofaciocutaneous Syndrome
Short nose, Abnormal heart valve morphology, Anteverted nares, Lymphedema, Hypertrophic cardiomyo... ORPHA:1340
Coffin-Siris Syndrome
Short nose, Wide nasal base, Hypospadias, Delayed eruption of teeth, Anteverted nares, Thick nasa... ORPHA:1465
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Short nose, Patent foramen ovale, Mitral valve prolapse OMIM:615539
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Rimmed vacuoles, EMG: myopathic abnormalities, Increased variability in muscle fiber diameter, Ge... ORPHA:52430
S-Adenosylhomocysteine Hydrolase Deficiency
Hydrops fetalis, Cardiomyopathy ORPHA:88618
Fetal Alcohol Syndrome
Anteverted nares, Atrial septal defect, Micrognathia, Short nose ORPHA:1915
Donnai-Barrow Syndrome
Short nose, Short sternum, Non-acidotic proximal tubulopathy, Proteinuria, Malar flattening, Broa... OMIM:222448
Holt-Oram Syndrome
Abnormal coronary artery origin, Pulmonic stenosis, Aplasia of the 1st metacarpal, Short humerus,... OMIM:142900
Craniofaciofrontodigital Syndrome
Persistent fetal circulation, Abnormal cerebral vascular morphology, Dilatation of the cerebral a... ORPHA:363705
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Pulmonic stenosis, Broad nasal tip, Abnormal pulmonary valve morphology, Unilateral cryptorchidism ORPHA:137634
Holt-Oram Syndrome
Atrioventricular canal defect, Abnormal aortic morphology, Ventricular septal defect, Phocomelia,... ORPHA:392
Basel-Vanagaite-Smirin-Yosef Syndrome
Atrial septal defect, Retrognathia, Hypospadias, Cholelithiasis, Anteverted nares, Mandibular pro... ORPHA:464738
15Q11.2 Microdeletion Syndrome
Total anomalous pulmonary venous return, Coarctation of aorta, Abnormal heart morphology, Tetralo... ORPHA:261183
Poikiloderma With Neutropenia
Retrognathia, Short nose, Underdeveloped nasal alae, Carious teeth, Micrognathia, Recurrent sinus... OMIM:604173
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Ground-glass opacification, Abnormal pulmonary interstitial morphology, Atelectasis, Recurrent lo... OMIM:620233
1Q21.1 Microdeletion Syndrome
Interrupted aortic arch, Vesicoureteral reflux, Cryptorchidism, Hydronephrosis, Patent ductus art... ORPHA:250989
Chops Syndrome
Short nose, Anteverted nares, Patent foramen ovale, Vesicoureteral reflux, Anomalous pulmonary ve... OMIM:616368
Facial Paresis, Hereditary Congenital, 3
Anteverted nares, Micrognathia, Short nose, Depressed nasal bridge OMIM:614744
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Increased variability in muscle fiber diameter, Flexion contracture OMIM:619026
Congenital Disorder Of Glycosylation, Type It
Delayed puberty, Coarctation of aorta, Hydronephrosis, Micrognathia, Decreased serum insulin-like... OMIM:614921
Benign Familial Infantile Epilepsy
Cyanosis ORPHA:306
Generalized Arterial Calcification Of Infancy
Calcification of the aorta, Ventricular hypertrophy, Ascites, Nephrocalcinosis, Pancreatic calcif... ORPHA:51608
Teebi-Shaltout Syndrome
Ureteral stenosis, Aortic valve stenosis, Hydronephrosis, Broad nasal tip, Ventricular septal def... OMIM:272950
Musculocontractural Ehlers-Danlos Syndrome
Short nose, Abnormal heart valve morphology, Nephrolithiasis, Functional abnormality of the bladd... ORPHA:2953
Atresia Of Urethra
Hydroureter, Recurrent urinary tract infections, Dilatation of the bladder, Vesicoureteral reflux... ORPHA:105
Absent Eyebrows And Eyelashes With Mental Retardation
Convex nasal ridge, Short nose OMIM:200130
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Short nose, Narrow nasal bridge, Low hanging columella, Anteverted nares, Hypertrophic cardiomyop... OMIM:619383
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Short nose, Abnormal renal collecting system morphology, Proportionate shortening of all digits, ... ORPHA:280633
Brachydactyly, Type B1
Hypoplastic sacrum, Aplasia/Hypoplasia of the distal phalanges of the toes, Short middle phalanx ... OMIM:113000
Frontometaphyseal Dysplasia 1
Hydroureter, Delayed eruption of teeth, Absent frontal sinuses, Persistence of primary teeth, Hyd... OMIM:305620
Gabriele-De Vries Syndrome
Patent foramen ovale, Micrognathia, Ureteropelvic junction obstruction, Hydronephrosis, Malar fla... OMIM:617557
Alkuraya-Kucinskas Syndrome
Short nose, Anteverted nares, Pleural effusion, Pericardial effusion, Micrognathia, Edema, Microp... OMIM:617822
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Small pituitary gland, Thyroid hypoplasia, Decreased fetal movement, Oligohydramnios, Single umbi... OMIM:619503
Hamamy Syndrome
Hypoparathyroidism, Dental malocclusion, Short 2nd finger, Anteverted nares, Enamel hypoplasia, M... OMIM:611174
Baker-Gordon Syndrome
Short nose, Prominent nasal tip OMIM:618218
Floating-Harbor Syndrome
Long nose, Mesocardia, Short metacarpal, Nephrocalcinosis, Congenital posterior urethral valve, S... ORPHA:2044
Immunodeficiency 9
Amelogenesis imperfecta, Hypoplasia of the thymus, Abnormal natural killer cell count, Lymphopenia OMIM:612782
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Generalized abnormality of skin, Recurrent respiratory infections, Atelectasis ORPHA:2314
Renal Agenesis
Unilateral renal agenesis, Aplasia/Hypoplasia of the bladder, Bilateral renal agenesis, Renal age... ORPHA:411709
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Wide nose, Pulmonic stenosis, Micrognathia, Recurrent sinusitis, Eosinophilia, Atrial septal defect OMIM:618282
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Ureteral duplication, Antenatal intracerebral hemorrhage, Cardiomegaly, Long-cha... OMIM:608836
Clark-Baraitser Syndrome
Anteverted nares, Short nose, Depressed nasal bridge, Low hanging columella OMIM:617752
Orotic Aciduria
Oroticaciduria, Hematuria, Hypochromia, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp... OMIM:258900
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Short nose, Abnormal renal morphology, Mandibular prognathia, Abnormal heart morphology, Short to... OMIM:239300
Intellectual Developmental Disorder, X-Linked 21
Short nose, Mandibular prognathia, Macroorchidism OMIM:300143
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Short nose, Microretrognathia ORPHA:1389
Peroxisome Biogenesis Disorder 1A (Zellweger)
Breech presentation, Hypospadias, Anteverted nares, Adrenal hypoplasia, Cryptorchidism, Renal cor... OMIM:214100
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Transposition of the great arteries, Patent foramen ovale, Cryptorchidism, Bulbous nose, Depresse... OMIM:616789
Pentalogy Of Cantrell
Hypospadias, Renal agenesis, Abnormal pericardium morphology, Tetralogy of Fallot, Aplasia/Hypopl... ORPHA:1335
Miller-Dieker Lissencephaly Syndrome
Short nose, Polyhydramnios, Delayed eruption of teeth, Pelvic kidney, Anteverted nares, Micrognat... OMIM:247200
Cardiofaciocutaneous Syndrome 3
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, Hypertrophic cardiomyopathy OMIM:615279
Branchial Arch Syndrome, X-Linked
Pulmonic stenosis, Cryptorchidism OMIM:301950
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Unilateral renal agenesis, Hypospadias, Abnormality of the endocrine system, Flared nostrils, Lym... ORPHA:487796
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Long nose, Narrow nasal bridge, Ascending tubular aorta aneurysm, Hypoplasia of the maxilla, Micr... OMIM:309520
Dyrk1A-Related Intellectual Disability Syndrome
Breast hypoplasia, Unilateral renal agenesis, Hypospadias, Pelvic kidney, Anterior pituitary hypo... ORPHA:464306
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity, Splenomegaly, Lymphopenia, Thyroid c... ORPHA:3261
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Short nose, Anteverted nares, T lymphocytopenia, Sinusitis, Micrognathia, Malar flattening, Reduc... OMIM:242860
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Ureteral duplication, Pancreatic aplasia, Pulmonic stenosis, Oligohydramnios, Hypoplasia of right... ORPHA:2255
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Polyhydramnios, Patent foramen ovale, Notched primary central incisor, Right atrial enlargement, ... OMIM:620519
Chronic Atrial And Intestinal Dysrhythmia
Left atrial enlargement, Bicuspid aortic valve, Pulmonic stenosis OMIM:616201
Hyperphosphatasia-Intellectual Disability Syndrome
Single umbilical artery, Supernumerary nipple, Mandibular prognathia, Shortening of all distal ph... ORPHA:247262
Chromosome 14Q11-Q22 Deletion Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Short nose, Renal tubular acidosi... OMIM:613457
Thrombocytopenia-Absent Radius Syndrome
Abnormality of the kidney, Fibular aplasia, Aplasia/Hypoplasia of the ulna, Aplasia/Hypoplasia of... ORPHA:3320
Chromosome 9P Deletion Syndrome
Retrognathia, Perimembranous ventricular septal defect, Hypospadias, Anteverted nares, Choanal at... OMIM:158170
Simpson-Golabi-Behmel Syndrome
Ureteral duplication, Hypoplasia of penis, Cardiomyopathy, Splenomegaly, Hypospadias, Anteverted ... ORPHA:373
Camptodactyly Syndrome, Guadalajara Type 1
Short nose, Anteverted nares, Mandibular prognathia, Short toe, Short distal phalanx of finger, D... ORPHA:1327
Right Pulmonary Artery, Anomalous Origin Of, Familial
Patent foramen ovale, Anomalous origin of right pulmonary artery from ascending aorta, Coarctatio... OMIM:610338
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Palpebral edema, Abnormal sweat gland morphology, Predominantly lower limb lymphedema, Nonimmune ... OMIM:607823
Encephalopathy Due To Sulfite Oxidase Deficiency
Short nose, Aminoaciduria ORPHA:833
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Abnormal nostril morphology, Short nose, Hypoplasia of penis, Anosmia, Short distal phalanx of fi... ORPHA:1295
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Hypospadias, Renal agenesis, Pulmonary artery stenosis, Congenital pulmonary airway malformation,... OMIM:611812
Congenital Total Pulmonary Venous Return Anomaly
Infracardiac total anomalous pulmonary venous connection, Atrial situs ambiguous, Transposition o... ORPHA:99125
X-Linked Mandibulofacial Dysostosis
Pulmonic stenosis, Abnormal mitral valve morphology, Micrognathia, Prominent nasal bridge, Hypopl... ORPHA:1131
Brain Malformations With Or Without Urinary Tract Defects
Short nose, Anteverted nares, Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis OMIM:613735
Edinburgh Malformation Syndrome
Anteverted nares, Micrognathia, Choanal atresia, Short nose ORPHA:1895
Hydrolethalus Syndrome 1
Midline defect of the nose, Polyhydramnios, Adrenal gland dysgenesis, Hypospadias, Accessory sple... OMIM:236680
Macrocephaly-Intellectual Disability-Autism Syndrome
Short nose, Thyroid carcinoma, Depressed nasal bridge, Penile freckling, Hurthle cell thyroid ade... ORPHA:210548
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Abnormal circulating renin, Nephrolithiasis, Adrenal hyperplasia, Caesar... ORPHA:369929
Sifrim-Hitz-Weiss Syndrome
Renal insufficiency, Short clavicles, Vesicoureteral reflux, Cryptorchidism, Coarctation of aorta... OMIM:617159
Okamoto Syndrome
Short nose, Urinary incontinence, Abnormal left ventricle morphology, Anteverted nares, Primum at... ORPHA:2729
Desmosterolosis
Abnormality of the nose, Retrognathia, Short nose, Renal hypoplasia/aplasia, Micromelia, Renal ag... ORPHA:35107
Congenital Rubella Syndrome
Anemia, Type I diabetes mellitus, Thrombocytopenia, Splenomegaly, Patent ductus arteriosus, Atria... ORPHA:290
Igg4-Related Kidney Disease
Enlarged kidney, Pericarditis, Urinary bladder inflammation, Acute kidney injury, Thyroiditis, Ab... ORPHA:449395
Ataxia-Telangiectasia-Like Disorder 2
Congenital diaphragmatic hernia, Cutaneous telangiectasia, Cutaneous photosensitivity, Conjunctiv... OMIM:615919
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Delayed puberty, Long nose, Short nose, Decreased response to growth hormone stimulation test, De... OMIM:615866
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Retrognathia, Patent foramen ovale, Mandibular prognathia, Pulmonic stenosis, Renal hypoplasia, M... OMIM:618914
Histiocytosis-Lymphadenopathy Plus Syndrome
Atrial septal defect, Retrognathia, Decreased response to growth hormone stimulation test, Lympha... OMIM:602782
Tetrasomy 5P
Recurrent respiratory infections, Cyanosis, Pulmonary hypoplasia, Aplasia/Hypoplasia of the abdom... ORPHA:3309
Cardiofacioneurodevelopmental Syndrome
Atrioventricular canal defect, Cryptorchidism, Pulmonic stenosis, Asplenia, Micrognathia, Ventric... OMIM:619123
Mungan Syndrome
Pulmonic stenosis, Renal hypoplasia, Perimembranous ventricular septal defect, Vesicoureteral reflux OMIM:611376
Kapur-Toriello Syndrome
Hypoplasia of penis, Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus, Bu... ORPHA:2328
Distal Deletion 10Q
Acute kidney injury, Short nose, Short metatarsal, Vesicoureteral reflux, Enuresis, Functional ab... ORPHA:96148
Rere-Related Neurodevelopmental Syndrome
Hypospadias, Anteverted nares, Vesicoureteral reflux, Choanal atresia, Cryptorchidism, Micrognath... ORPHA:494344
Doors Syndrome
Aplasia/Hypoplasia of the phalanges of the 2nd toe, Wide nasal base, Adrenal hyperplasia, Nephroc... ORPHA:79500
Tatton-Brown-Rahman Syndrome
Fetal distress, Anteverted nares, Vesicoureteral reflux, Atrial septal defect, Ventricular septal... OMIM:615879
Chromosome 2P16.1-P15 Deletion Syndrome
Retrognathia, Prominent nasal tip, Decreased testicular size, Hydronephrosis, Hypogonadism, Recur... OMIM:612513
Recombinant 8 Syndrome
Abnormality of the kidney, Anteverted nares, Cryptorchidism, Pulmonary artery stenosis, Micrognat... ORPHA:96167
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Short nose, Anteverted nares, Micrognathia, Abnormal heart morphology, Depressed nasal bridge ORPHA:314655
Holoprosencephaly 14
Proboscis, Aortic valve atresia, Anteverted nares, Double outlet right ventricle, Ventricular sep... OMIM:619895
Fanconi Anemia, Complementation Group B
Aplastic anemia, Single umbilical artery, Hypergonadotropic hypogonadism, Renal agenesis, Bilater... OMIM:300514
Congenital Disorder Of Glycosylation, Type Iu
Short nose, Micrognathia OMIM:615042
Glycogen Storage Disease Vii
Increased muscle glycogen content, Increased variability in muscle fiber diameter, Jaundice OMIM:232800
Multicentric Carpotarsal Osteolysis Syndrome
Congenital diaphragmatic hernia OMIM:166300
Chromosome 17Q12 Deletion Syndrome
Retrognathia, Ovarian cyst, Urethral stenosis, Stage 5 chronic kidney disease, Short palm, Malar ... OMIM:614527
Ciliary Dyskinesia, Primary, 1
Pneumonia, Recurrent bronchitis, Atelectasis, Bronchiectasis OMIM:244400
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Retrognathia, Choanal atresia, Prominent nasal bridge, Patent ductus arteriosus, Ventricular sept... ORPHA:52055
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Short nose, Breech presentation, Micrognathia, Premature birth, Natal tooth, Depressed nasal bridge OMIM:617802
Bor Syndrome
Retrognathia, Renal hypoplasia/aplasia, Renal insufficiency, Vesicoureteral reflux, Ureteropelvic... ORPHA:107
Combined Oxidative Phosphorylation Defect Type 23
Cyanosis, Right ventricular hypertrophy, Left ventricular hypertrophy ORPHA:444013
Pparg-Related Familial Partial Lipodystrophy
Abnormality of skeletal muscle fiber size, Skeletal muscle hypertrophy, Calf muscle pseudohypertr... ORPHA:79083
Schinzel-Giedion Midface Retraction Syndrome
Short nose, Hydroureter, Hypospadias, Anteverted nares, Hypoplastic nipples, Hypoplasia of first ... OMIM:269150
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Long nose, Urinary incontinence, Short 5th finger, Short finger, Hypospadias, Pelvic kidney, Ante... OMIM:619522
Acrodysostosis
Hypoplasia of the ulna, Hypoplasia of the radius, Short nose, Short metatarsal, Delayed eruption ... ORPHA:950
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Nephronophthisis, Short ribs, Splenomegaly, Chronic kidney disease, Ventricular septal defect OMIM:615630
Fryns Syndrome
Ureteral duplication, Polyhydramnios, Hypospadias, Chylothorax, Anteverted nares, Renal cyst, Ect... OMIM:229850
Holoprosencephaly 3
Abnormality of the nose, Central diabetes insipidus, Single naris, Proboscis, Hydronephrosis, Mal... OMIM:142945
Transketolase Deficiency
Increased level of ribose in urine, Patent foramen ovale, Renal cyst, Abnormal coronary artery co... ORPHA:488618
Costello Syndrome
Polyhydramnios, Abnormal dental enamel morphology, Hypertrophic cardiomyopathy, Thickened nuchal ... ORPHA:3071
Webb-Dattani Syndrome
Retrognathia, Decreased response to growth hormone stimulation test, Diabetes insipidus, Hyposthe... OMIM:615926
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Retrognathia, Micrognathia, Thick nasal alae, Short nose ORPHA:163961
Trisomy 18
Short nose, Choanal atresia, Abnormality of the upper urinary tract, Cryptorchidism, Hydronephros... ORPHA:3380
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Renal hypoplasia/aplasia, Hydroureter, Urogenital sinus anomaly, Oligohydramnios, Hydronephrosis,... ORPHA:2973
Feingold Syndrome 1
Decreased fetal movement, Annular pancreas, Tricuspid atresia, Polyhydramnios, Accessory spleen, ... OMIM:164280
Peters Plus Syndrome
Renal hypoplasia/aplasia, Ureteral duplication, Pulmonic stenosis, Decreased fetal movement, Abno... ORPHA:709
Jacobsen Syndrome
Short nose, Annular pancreas, Anteverted nares, Missing ribs, Cryptorchidism, Aortic valve stenos... ORPHA:2308
Pontocerebellar Hypoplasia, Type 17
Secundum atrial septal defect, Ventricular septal defect, Microretrognathia, Patent ductus arteri... OMIM:619909
Viss Syndrome
Retrognathia, Pulmonary artery aneurysm, Iliac artery aneurysm, Arterial tortuosity, Tortuous cer... OMIM:619472
Omodysplasia 1
Short nose, Fibular hypoplasia, Rhizomelia, Short tibia, Cryptorchidism, Pulmonary artery stenosi... OMIM:258315
Kabuki Syndrome 2
Atrioventricular canal defect, Dental malocclusion, Depressed nasal tip, Pulmonic stenosis, Coarc... OMIM:300867
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Hydronephrosis OMIM:235760
Wiskott-Aldrich Syndrome
Acute leukemia, Glomerulopathy, Anemia, Vasculitis, Abnormal eosinophil morphology, Hypoplasia of... ORPHA:906
Sotos Syndrome
Decreased fetal movement, Abnormality of the kidney, Advanced eruption of teeth, Muscular ventric... OMIM:117550
Dermotrichic Syndrome
Short nose, Anemia, Aminoaciduria, Depressed nasal bridge ORPHA:99688
Ogden Syndrome
Cryptorchidism, Pulmonary artery stenosis, Enlarged naris, Microretrognathia, Ventricular septal ... ORPHA:276432
Intellectual Developmental Disorder, X-Linked, Syndromic 35
Short finger, Polyhydramnios, Dilation of Virchow-Robin spaces, Hypospadias, Mandibular prognathi... OMIM:300998
Alagille Syndrome
Hypoplasia of the ulna, Long nose, Delayed puberty, Renal hypoplasia/aplasia, Abnormality of the ... ORPHA:52
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Anteverted nares, Cryptorchidism, Micrognathia, Abnormal heart morphology, Abnormal nasal morphol... ORPHA:404440
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Pulmonic stenosis, Atrial septal defect, Absent thumb OMIM:619239
Congenital Myopathy 22A, Classic
Ragged-red muscle fibers, Scapular winging, Congenital finger flexion contractures, Limb muscle w... OMIM:620351
Omenn Syndrome
Anemia, Lymphadenopathy, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymphocytopenia, T... OMIM:603554
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Retrognathia, Long nose, Patent foramen ovale, Pulmonary artery atresia, Short sternum, Patent du... OMIM:620113
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Fibular hypoplasia, Short ribs, Micrognathia, Natal tooth, Tetralogy of Fallot, Depressed nasal b... OMIM:617925
Autoinflammatory Disease, Systemic, With Vasculitis
Small vessel vasculitis, Hydrops fetalis, Anemia, Congenital hydrocele, Ascending tubular aorta a... OMIM:620376
Paternal Uniparental Disomy Of Chromosome 6
Abnormal placenta morphology, Retrognathia, Dehydration, Prominent nose, Cryptorchidism, Precocio... ORPHA:96191
Apert Syndrome
Delayed eruption of teeth, Mandibular prognathia, Rhizomelic arm shortening, Choanal atresia, Cry... OMIM:101200
Prader-Willi Syndrome Due To Translocation
Abnormality of the kidney, Retrognathia, Short nose, Underdeveloped nasolabial fold, Decreased re... ORPHA:177907
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Thyroid hypoplasia, Aplasia of the thymus, Patent foramen ovale, Choanal atresia, Carious teeth, ... OMIM:620186
Insulin-Like Growth Factor I, Resistance To
Retrognathia, Short finger, Increased circulating insulin-like growth factor 1 concentration, Pat... OMIM:270450
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Unilateral renal agenesis, Polycystic kidney dysplasia, Vesicoureteral reflux... ORPHA:2237
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Renal tubular acidosis, Nephrogenic diabetes insipidus, Glycosuria, Nephrocalcinosis, Proteinuria... OMIM:613404
Glycogen Storage Disease Due To Acid Maltase Deficiency
Glycogen accumulation in muscle fiber lysosomes, Atelectasis, Facial hypotonia, EMG: myopathic ab... ORPHA:365
Pterygium Colli, Isolated
Short nose OMIM:177990
Thrombocytopenia-Absent Radius Syndrome
Ureteral duplication, Bilateral radial aplasia, Absent thumb, Aplasia/hypoplasia of the humerus, ... OMIM:274000
Down Syndrome
Delayed puberty, Short nose, Atrioventricular canal defect, Renal hypoplasia/aplasia, Leukemia, A... ORPHA:870
Pfeiffer Syndrome Type 3
Short nose, Short hallux, Vesicoureteral reflux, Short foot, Choanal atresia, Hydronephrosis, Hor... ORPHA:93260
Trigonocephaly 1
Short nose, Wide nasal bridge, Long penis OMIM:190440
Bartsocas-Papas Syndrome
Short nose, Renal hypoplasia/aplasia, Aplasia/Hypoplasia of the distal phalanges of the toes, Mic... ORPHA:1234
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Retrognathia, Long nose, Atrioventricular canal defect, Polyhydramnios, Thyroid agenesis, Thyroid... ORPHA:3047
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Ankle flexion contracture, Knee flexion contracture, Elbow flexion contracture, Increased variabi... OMIM:619461
Metachondromatosis
Pulmonic stenosis OMIM:156250
Acrofacial Dysostosis, Catania Type
Short nose, Hypospadias, Carious teeth, Short palm, Premature birth, Microretrognathia, Hypoplasi... ORPHA:1786
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Atelectasis, Torticollis, Repeated pneumothoraces, Pulmonary hypoplasia, Bruising susceptibility,... ORPHA:536467
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Short nose, Elevated urinary aminoisobutyric acid, Anteverted nares, Beta-alaninuria, Elevated ur... OMIM:614105
Cerebrofacioarticular Syndrome
Hypospadias, Bilateral choanal atresia/stenosis, Lymphedema, Pulmonic stenosis, Renal hypoplasia,... ORPHA:314679
Radio-Tartaglia Syndrome
Retrognathia, Fetal distress, Anteverted nares, Prominent nasal tip, Precocious puberty, Microgna... OMIM:619312
Gaucher Disease
Delayed puberty, Hydrops fetalis, Hematuria, Anemia, Cholelithiasis, Pancytopenia, Abnormal heart... ORPHA:355
Velocardiofacial Syndrome
Retrognathia, Right aortic arch with mirror image branching, Hypoparathyroidism, Interrupted aort... OMIM:192430
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Short metacarpal, Renal cyst, Micrognathia, Broad columella, Short distal phalanx of finger, Vent... OMIM:250410
15Q Overgrowth Syndrome
Retrognathia, Breech presentation, Abnormal renal morphology, Mandibular prognathia, Micrognathia... ORPHA:314585
Fanconi Anemia, Complementation Group N
Aplastic anemia, Hypoplasia of the radius, Unilateral renal agenesis, Ectopic kidney, Acute myelo... OMIM:610832
Myopathy With Lactic Acidosis, Hereditary
Increased variability in muscle fiber diameter, Rhabdomyolysis, Skeletal muscle atrophy, Increase... OMIM:255125
Mosaic Trisomy 1
Single umbilical artery, Polyhydramnios, Renal cortical cysts, Pulmonary artery atresia, Renal cy... ORPHA:1692
Vitamin K Antagonist Embryofetopathy
Short nose, Anteverted nares, Choanal atresia, Short distal phalanx of finger, Depressed nasal br... ORPHA:1914
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Arteria lusoria, Single umbilical artery, Supernumerary nipple, Hyposmia, Pelvic kidney, Patent f... OMIM:618653
Smith-Lemli-Opitz Syndrome
Renal hypoplasia/aplasia, Hypoplasia of penis, Mesomelia, Advanced eruption of teeth, Rhizomelia,... ORPHA:818
Hand-Foot-Genital Syndrome
Hypospadias, Short first metatarsal, Short hallux, Shortening of all middle phalanges of the fing... ORPHA:2438
Gillessen-Kaesbach-Nishimura Syndrome
Congenital diaphragmatic hernia, Pulmonary hypoplasia, Flexion contracture, Abnormal lung lobation OMIM:263210
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Short nose, Shortening of all distal phalanges of the fingers, Broad nasal tip, Decreased fetal m... OMIM:614207
Weill-Marchesani Syndrome 3
Pulmonic stenosis, Aortic valve stenosis OMIM:614819
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Pulmonic stenosis, Aortic valve stenosis, Abnormal heart morphology, Bicuspid aortic valve, Hypos... ORPHA:353281
7Q11.23 Microduplication Syndrome
Retrognathia, Abnormal columella morphology, Unilateral renal agenesis, Hypospadias, Aortic aneur... ORPHA:96121
Hereditary Elliptocytosis
Hydrops fetalis, Cholelithiasis, Reticulocytosis, Poikilocytosis, Elliptocytosis, Splenomegaly, S... ORPHA:288
Hereditary Methemoglobinemia
Cyanosis ORPHA:621
Pearson Marrow-Pancreas Syndrome
Hydrops fetalis, Refractory sideroblastic anemia, Anemia, Pancytopenia, Hypercalciuria, Dehydrati... OMIM:557000
Specc1L-Related Hypertelorism Syndrome
Short nose, Advanced eruption of teeth, Ectopic kidney, Cryptorchidism, Tetralogy of Fallot, Shor... ORPHA:1519
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Short nose, Polyhydramnios, Mandibular prognathia, Hydrocele testis, Microretrognathia, Intravent... OMIM:613603
Rubinstein-Taybi Syndrome 1
Retrognathia, Premature thelarche, Mitral valve prolapse, Perimembranous ventricular septal defec... OMIM:180849
Kleefstra Syndrome 1
Hypospadias, Abnormal renal morphology, Mandibular prognathia, Anteverted nares, Persistence of p... OMIM:610253
Junctional Epidermolysis Bullosa With Pyloric Atresia
Polyhydramnios, Hematuria, Aplasia of the bladder, Ureterocele, Enamel hypoplasia, Hydronephrosis... ORPHA:79403
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Retrognathia, Anteverted nares, Hypertrophic cardiomyopathy, Cryptorchidism, Patent ductus arteri... OMIM:612938
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Shortening of all distal phalanges of the fingers, Short nose, Broad nasal tip, Wide nasal bridge OMIM:615716
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Renal hypoplasia/aplasia, Abnormality of the ureter, Polycystic ovaries, Ventricular septal defec... ORPHA:1770
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Supernumerary nipple, Short ribs, Cryptorchidism, Congenital hypothyroidism, Patent ductus arteri... ORPHA:2519
Kawasaki Disease
Myocarditis, Recurrent pharyngitis, Vasculitis, Ascending tubular aorta aneurysm, Abnormal heart ... ORPHA:2331
Cenani-Lenz Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Short nose, Renal hypoplasia/aplasia, Abnormal ... ORPHA:3258
Ruvalcaba Syndrome
Delayed puberty, Short nose, Hematuria, Short metacarpal, Micromelia, Abnormal localization of ki... ORPHA:3121
Tonne-Kalscheuer Syndrome
Congenital diaphragmatic hernia, Pulmonary hypoplasia OMIM:300978
Heart And Brain Malformation Syndrome
Polyhydramnios, Interrupted aortic arch, Anteverted nares, Ventricular septal defect, Wide nasal ... OMIM:616920
Nabais Sa-De Vries Syndrome, Type 1
Short nose, Vesicoureteral reflux, Prominent nasal bridge, Bulbous nose, Depressed nasal bridge OMIM:618828
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Hydroureter, Anteverted nares, Bulbous nose, Pulmonic stenosis, Cryptorchidism, Micrognathia, Pro... OMIM:610759
Intellectual Developmental Disorder, Autosomal Dominant 53
Cryptorchidism, Hydronephrosis, Short femur, Ventricular septal defect, Micropenis OMIM:617798
Bainbridge-Ropers Syndrome
Retrognathia, Short nose, Polyhydramnios, Breech presentation, Anteverted nares, Precocious puber... OMIM:615485
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
Increased variability in muscle fiber diameter, Type 2 muscle fiber predominance OMIM:619173
20Q11.2 Microduplication Syndrome
Retrognathia, Palpebral edema, Short nose, Abnormal nasal bridge morphology, Anteverted nares, Sh... ORPHA:363659
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Retrognathia, Cryptorchidism, Prominent nasal bridge, Atrial septal defect, Ventricular septal de... OMIM:617452
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the lungs, Abnormal lung lobation ORPHA:2063
Simpson-Golabi-Behmel Syndrome, Type 1
Enlarged kidney, Short ribs, Cardiomyopathy, Pulmonic stenosis, Splenomegaly, Short distal phalan... OMIM:312870
Focal Dermal Hypoplasia
Renal hypoplasia/aplasia, Narrow nasal bridge, Abnormal dental enamel morphology, Short clavicles... ORPHA:2092
Floating-Harbor Syndrome
Mesocardia, Nephrocalcinosis, Congenital posterior urethral valve, Hypospadias, Carious teeth, Bu... OMIM:136140
Carnitine-Acylcarnitine Translocase Deficiency
Rhabdomyolysis, Cyanosis ORPHA:159
Igg4-Related Retroperitoneal Fibrosis
Acute kidney injury, Renal tubular epithelial necrosis, Large vessel vasculitis, Hematuria, Normo... ORPHA:49041
Schisis Association
Congenital diaphragmatic hernia ORPHA:63862
Hereditary Xanthinuria
Acute kidney injury, Hematuria, Xanthinuria, Recurrent urinary tract infections, Decreased urinar... ORPHA:3467
Pulmonary Alveolar Microlithiasis
Ground-glass opacification, Pneumothorax, Pleural thickening, Cyanosis, Bronchitis, Hypoxemia, In... ORPHA:60025
Contractural Arachnodactyly, Congenital
Knee flexion contracture, Elbow flexion contracture, Wrist flexion contracture, Congenital finger... OMIM:121050
Kapur-Toriello Syndrome
Low hanging columella, Cryptorchidism, Short thumb, Micropenis, Patent ductus arteriosus, Atrial ... OMIM:244300
Trisomy 20P
Abnormality of the kidney, Short nose, Hypospadias, Anteverted nares, Abnormality of the ureter, ... ORPHA:261318
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydronephrosis, Hydroureter OMIM:618240
Familial Partial Lipodystrophy, Dunnigan Type
Skeletal muscle hypertrophy, Abnormality of skeletal muscle fiber size, Myopathy ORPHA:2348
Glutamine Deficiency, Congenital
Short nose, Anteverted nares, Micromelia, Wide nasal bridge, Depressed nasal bridge OMIM:610015
Koolen-De Vries Syndrome Due To A Point Mutation
Cardiomyopathy, Pulmonic stenosis, Abnormal heart morphology, Bicuspid aortic valve, Decreased re... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Cardiomyopathy, Pulmonic stenosis, Abnormal heart morphology, Bicuspid aortic valve, Decreased re... ORPHA:363958
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Short nose, Wide nose, Cryptorchidism, Decreased testicular size, Micrognathia, Prominent nasal b... ORPHA:251028
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Congenital diaphragmatic hernia, Anomalous pulmonary venous return, Aplasia/Hypoplasia of the lun... ORPHA:1120
Stromme Syndrome
Accessory spleen, Micrognathia, Hydronephrosis, Prominent nasal bridge, Bilateral renal hypoplasi... OMIM:243605
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Retrognathia, Short nose, Polyhydramnios, Hypoplasia of penis, Abnormal dental enamel morphology,... ORPHA:1812
Microphthalmia With Limb Anomalies
Retrognathia, Fibular hypoplasia, Short nose, Flared nostrils, Finger aplasia, Unilateral cryptor... OMIM:206920
Robinow Syndrome, Autosomal Recessive 1
Retrognathia, Hypoplastic sacrum, Mesomelic arm shortening, Nephrocalcinosis, Abnormal heart morp... OMIM:268310
Autoimmune Pulmonary Alveolar Proteinosis
Crazy paving pattern, Hypoxemia, Intraalveolar phospholipid accumulation, Cyanosis ORPHA:747
Ileal Neuroendocrine Tumor
Iron deficiency anemia, Lymphadenopathy, Tricuspid stenosis, Small intestine carcinoid, Pulmonic ... ORPHA:100078
Distal Deletion 12Q
Supernumerary tooth, Annular pancreas, Maturity-onset diabetes of the young, Ectopic kidney, Poly... ORPHA:96149
Erdheim-Chester Disease
Abnormal aortic valve morphology, Anemia, Diabetes insipidus, Dysuria, Pleural effusion, Abnormal... ORPHA:35687
Mandibuloacral Dysplasia With Type B Lipodystrophy
Short nose, Hyperinsulinemia, Short clavicles, Narrow nasal ridge, Hypoplasia of teeth, Micrognat... OMIM:608612
Raine Syndrome
Short nose, Hydroureter, Mandibular prognathia, Choanal atresia, Micromelia, Enamel hypoplasia, M... OMIM:259775
Cebalid Syndrome
Congenital diaphragmatic hernia OMIM:618774
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Short nose, Hemiatrophy of upper limb, Anteverted nares, Micrognathia, Oligosacchariduria, Depres... ORPHA:163649
Phaver Syndrome
Hypoplastic aortic arch, Pulmonary artery atresia, Coarctation of aorta, Short thumb, Ventricular... ORPHA:2876
Noonan Syndrome 10
Pleural effusion, Hypertrophic cardiomyopathy, Increased nuchal translucency, Pulmonic stenosis, ... OMIM:616564
Macrocephaly/Autism Syndrome
Short nose, Dilation of Virchow-Robin spaces, Splenomegaly, Lymphopenia, Penile freckling, Depres... OMIM:605309
Ogden Syndrome
Left atrial enlargement, Enlarged kidney, Bifid nasal tip, Decreased fetal movement, Cardiomegaly... OMIM:300855
Xp22.13P22.2 Duplication Syndrome
Congenital diaphragmatic hernia, Recurrent upper respiratory tract infections ORPHA:284180
Delpire-Mcneill Syndrome
Ventricular septal defect OMIM:619083
2P15P16.1 Microdeletion Syndrome
Retrognathia, Polyhydramnios, Supernumerary nipple, Prominent nasal tip, Decreased testicular siz... ORPHA:261349
Endove Syndrome, Limb-Only Type
Fibular hypoplasia, Disproportionate shortening of the tibia, Aplasia of the distal phalanges of ... OMIM:619217
X Small Rings
Aortic root aneurysm, Upper limb undergrowth, Anteverted nares, Mitral stenosis, Fetal pyelectasi... ORPHA:96201
Cooper-Jabs Syndrome
Anteverted nares, Ventricular septal defect, Malar flattening, Missing ribs ORPHA:1488
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion
Convex nasal ridge, Atrial septal defect, Ventricular septal defect, Prominent nasal bridge ORPHA:261190
Neurodevelopmental Disorder With Language Delay And Seizures
Hypothyroidism, Ventricular septal defect, Cryptorchidism OMIM:619908
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Short nose, Rhizomelia, Depressed nasal ridge, Short palm, Micrognathia, Short foot ORPHA:163966
Cutis Laxa, Autosomal Recessive, Type Ia
Congenital diaphragmatic hernia, Emphysema, Poor wound healing, Recurrent respiratory infections,... OMIM:219100
Toriello-Carey Syndrome
Short nose, Cardiomyopathy, Pulmonic stenosis, Coarctation of aorta, Micrognathia, Tetralogy of F... ORPHA:3338
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Delayed puberty, Short nose, Wide nose, Anteverted nares, Hypothyroidism, Hypoplasia of teeth, Mi... ORPHA:391408
Phelan-Mcdermid Syndrome
Abnormality of the kidney, Palpebral edema, Polycystic kidney dysplasia, Vesicoureteral reflux, L... OMIM:606232
X-Linked Intellectual Disability Due To Gria3 Mutations
Mandibular prognathia, Hydronephrosis, Malar flattening, Cryptorchidism, Micropenis, Macrodontia ... ORPHA:364028
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Acrocyanosis, Joint contracture of the 5th finger OMIM:614407
Mosaic Trisomy 8
Wide nose, Anteverted nares, Vesicoureteral reflux, Decreased testicular size, Micrognathia, Hydr... ORPHA:96061
Smith-Lemli-Opitz Syndrome
Breech presentation, Premature birth, Splenomegaly, Decreased fetal movement, Hypospadias, Anteve... OMIM:270400
Intellectual Developmental Disorder, X-Linked 30
Anteverted nares, Short nose, Prominent nasal bridge OMIM:300558
Premature Aging Syndrome, Penttinen Type
Elevated circulating thyroid-stimulating hormone concentration, Retrognathia, Short nose, Delayed... OMIM:601812
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Anteverted nares, Short nose, Depressed nasal bridge OMIM:613443
Kabuki Syndrome
Short columella, Renal hypoplasia/aplasia, Hypospadias, Duplicated collecting system, Hypoplasia ... ORPHA:2322
Intellectual Developmental Disorder, Autosomal Dominant 66
Cerebral cavernous malformation, Secundum atrial septal defect, Transposition of the great arteri... OMIM:619910
Buerger Disease
Livedo reticularis, Acrocyanosis ORPHA:36258
Lethal Congenital Contracture Syndrome 9
Abnormality of the diaphragm, Wrist flexion contracture, Congenital contracture, Arthrogryposis m... OMIM:616503
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Spontaneous neonatal pneumothorax, Abnormal pulmonary interstitial morphology, Pulmonary opacity,... ORPHA:217563
Coffin-Siris Syndrome 4
Short phalanx of the 5th toe, Wide nose, Narrow nasal bridge, Anteverted nares, Pulmonary artery ... OMIM:614609
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Amelia, Short femur, Ventricular septal defect, Foot oligodactyly OMIM:601357
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Perimembranous ventricular septal defect, Short 2nd finger, Coarctation of aorta, Secundum atrial... OMIM:600987
Diaphragmatic Hernia 4, With Cardiovascular Defects
Polyhydramnios, 11 pairs of ribs, Aortic root aneurysm, Aortopulmonary window, Pulmonary artery h... OMIM:620025
19P13.3 Microduplication Syndrome
Unilateral cryptorchidism, Precocious puberty, Micrognathia, Prominent nose, Ventricular septal d... ORPHA:447980
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Retrognathia, Vascular dilatation, Narrow nasal ridge, Pulmonic stenosis, Aortic dissection, Micr... OMIM:618343
Non-Distal Duplication 13Q
Short nose, Micrognathia, Cryptorchidism ORPHA:1702
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Short nose, Rhizomelia, 11 pairs of ribs, Hypoplasia of the calcaneus, Depressed nasal ridge, Dis... OMIM:300863
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Normochromic anemia, Cholelithiasis, Hypertrophic cardiomyopathy, P... OMIM:618775
Aarskog-Scott Syndrome
Delayed puberty, Short nose, Anteverted nares, Testicular atrophy, Bilateral cryptorchidism, Hypo... OMIM:305400
13Q12.3 Microdeletion Syndrome
Congenital diaphragmatic hernia, Recurrent respiratory infections, Camptodactyly ORPHA:412035
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Retrognathia, Precocious puberty, Hydronephrosis, Short toe, Dentinogenesis imperfecta, Prominent... OMIM:619269
Fucosidosis
Decreased muscle mass, Vascular skin abnormality, Acrocyanosis ORPHA:349
Carey-Fineman-Ziter Syndrome
Short nose, Glandular hypospadias, Anteverted nares, Micrognathia, Hydronephrosis ORPHA:1358
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Short nose, Patent foramen ovale, Abnormal heart morphology, Bicuspid aortic valve, Atrial septal... ORPHA:457279
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Hypoplastic sacrum, Ureterocele, Abnormal nasopharynx morphology, Urethral stenosis, Decreased re... OMIM:604292
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Long nose, Short nose, Polyhydramnios, Decreased proportion of CD8-positive T cells, Anteverted n... ORPHA:508533
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hydrops fetalis, Wide nose, Hypoplasia of penis, Short ribs, Renal cyst, Micromelia, Renal hypopl... ORPHA:93271
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Ragged-red muscle fibers, Facial palsy, EMG: myopathic abnormalities, Muscle fiber necrosis, Limb... OMIM:157640
Hardikar Syndrome
Splenomegaly, Hypersplenism, Patent foramen ovale, Pulmonary artery stenosis, Hepatosplenomegaly,... OMIM:301068
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Right ventricul... OMIM:612949
19Q13.11 Microdeletion Syndrome
Retrognathia, Hypospadias, Cryptorchidism, Broad columella, Ventricular septal defect, Supernumer... ORPHA:217346
15q26 overgrowth syndrome
Abnormality of the kidney, Polycystic kidney dysplasia, Mandibular prognathia, Vesicoureteral ref... DECIPHER:81
Myasthenic Syndrome, Congenital, 19
Increased variability in muscle fiber diameter, Facial palsy, Recurrent lower respiratory tract i... OMIM:616720
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Dental malocclusion, Aortic aneurysm, Vesicoureteral reflux, Increased nuchal translucency, Hypot... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Dental malocclusion, Aortic aneurysm, Vesicoureteral reflux, Increased nuchal translucency, Hypot... ORPHA:352665
Chromosome 3Q29 Duplication Syndrome
Short nose, Bulbous nose, Wide nasal bridge OMIM:611936
Multiple Pterygium Syndrome, Escobar Variant
Hydrops fetalis, Hypospadias, Hypoplastic nipples, Micrognathia, Patellar aplasia, Decreased feta... OMIM:265000
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Short nose, Anteverted nares, Tetralogy of Fallot, Short femoral neck, Enamel agenesis, Wide nasa... OMIM:614701
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Polyhydramnios, Short ribs, Pancreatic fibrosis, Ventricular septal defect, Depressed nasal bridge OMIM:615503
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Retrognathia, Choanal atresia, Bilateral cryptorchidism, Prominent nasal bridge, Patent ductus ar... OMIM:300472
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Hypoplasia of the radius, Short ribs, Micromelia, Ventricular septal defect, Depressed nasal bridge OMIM:617895
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormal subclavian artery morphology, Pulmonic stenosis, Aortic valve stenosis, Abnormal heart m... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal subclavian artery morphology, Pulmonic stenosis, Aortic valve stenosis, Abnormal heart m... ORPHA:353277
Genitopatellar Syndrome
Polyhydramnios, Multicystic kidney dysplasia, Delayed eruption of teeth, Wide nose, Cryptorchidis... OMIM:606170
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Short nose, Bulbous nose, Wide nasal bridge OMIM:620292
Tetrasomy 9P
Juxtaductal coarctation of the aorta, Aplasia/Hypoplasia of the clavicles, Abnormal mitral valve ... ORPHA:3310
Eosinophilic Granulomatosis With Polyangiitis
Purpura, Myositis, Urticaria, Cutis marmorata, Abnormal pleura morphology, Acrocyanosis, Recurren... ORPHA:183
Malan Syndrome
Retrognathia, Advanced eruption of teeth, Short nose, Mandibular prognathia, Hyperplasia of the p... OMIM:614753
Cardiofaciocutaneous Syndrome 4
Decreased response to growth hormone stimulation test, Polyhydramnios, Ventricular septal hypertr... OMIM:615280
Cockayne Syndrome Type 3
Hydroureter, Unilateral renal agenesis, Premature coronary artery atherosclerosis, Aortic root an... ORPHA:90324
Foxg1 Syndrome Due To 14Q12 Microdeletion
Short nose, Palpebral edema, Mandibular prognathia, Bulbous nose, Depressed nasal bridge ORPHA:261144
Wiedemann-Rautenstrauch Syndrome
Hypospadias, Increased serum testosterone level, Delayed eruption of teeth, Long penis, Anteverte... OMIM:264090
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Polymicrogyria, Skeletal muscle atrophy, Pachygyria, Knee flexion contracture, Atrial septal defe... OMIM:603387
Opsismodysplasia
Short nose, Polyhydramnios, Rhizomelia, Renal phosphate wasting, Anteverted nares, Short metacarp... OMIM:258480
Oculodentodigital Dysplasia
Abnormality of the nose, Short nose, Short hallux, Narrow nasal bridge, Abnormal dental enamel mo... ORPHA:2710
Obesity-Hypoventilation Syndrome
Cyanosis OMIM:257500
3Q29 Microdeletion Syndrome
Short nose, Horseshoe kidney, Hypospadias, Prominent nasal bridge, Patent ductus arteriosus, Subv... ORPHA:65286
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Retrognathia, Large placenta, Polyhydramnios, Anteverted nares, Hydronephrosis, Depressed nasal b... ORPHA:254528
Dysosteosclerosis
Craniofacial hyperostosis, Delayed eruption of teeth, Abnormal dental enamel morphology, Hypoplas... ORPHA:1782
Bohring-Opitz Syndrome
Retrognathia, Polyhydramnios, Hyperechogenic pancreas, Anteverted nares, Mesomelic/rhizomelic lim... OMIM:605039
Al-Gazali Syndrome
Polyhydramnios, Micrognathia, Hydronephrosis OMIM:609465
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Retrognathia, Abnormality of the endocrine system, Premature thelarche, Aortic valve stenosis, Ab... ORPHA:268261
16P13.11 Microdeletion Syndrome
Short nose, Anteverted nares, Cryptorchidism, Atrial septal defect, Ventricular septal defect, De... ORPHA:261236
Arthrogryposis, Distal, Type 2A
Short nose, Polyhydramnios, Breech presentation, Mandibular prognathia, Malar flattening, Decreas... OMIM:193700
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Retrognathia, Wide nose, Cryptorchidism, Prominent nasal bridge, Atrial septal defect, Ventricula... ORPHA:505237
Congenital Myopathy 17
Polyhydramnios, Mandibular prognathia, Renal hypoplasia, Hydronephrosis, Ureteropelvic junction o... OMIM:618975
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
11 pairs of ribs, Hypospadias, Hypoplasia of penis, Cryptorchidism, Patent ductus arteriosus, Ven... ORPHA:77298
Laryngeal Abductor Paralysis
Cyanosis OMIM:150260
Pfeiffer Syndrome
Short nose, Shortening of all middle phalanges of the fingers, Mandibular prognathia, Short middl... OMIM:101600
Craniofrontonasal Dysplasia
Congenital diaphragmatic hernia, Camptodactyly of finger ORPHA:1520
1Q41Q42 Microdeletion Syndrome
Congenital diaphragmatic hernia, Pulmonary hypoplasia ORPHA:250999
Geleophysic Dysplasia 2
Short nose, Tricuspid stenosis, Aortic valve stenosis, Short palm, Mitral stenosis, Mitral valve ... OMIM:614185
Desmosterolosis
Short nose, Rhizomelia, Anteverted nares, Total anomalous pulmonary venous return, Micrognathia, ... OMIM:602398
Short Stature-Micrognathia Syndrome
Retrognathia, Penoscrotal hypospadias, Rhizomelia, Cryptorchidism, Micrognathia, Ventricular sept... OMIM:617164
Jacobsen Syndrome
Short nose, Annular pancreas, Hypospadias, Anteverted nares, Missing ribs, Cryptorchidism, Microg... OMIM:147791
Lymphangioleiomyomatosis
Pneumothorax, Atelectasis, Emphysema, Recurrent respiratory infections, Chylothorax, Pulmonary ly... ORPHA:538
Alagille Syndrome 1
Long nose, Short distal phalanx of finger, Stage 5 chronic kidney disease, Hypoplasia of the ulna... OMIM:118450
Meier-Gorlin Syndrome 7
Hypospadias, Breast aplasia, Aplasia/Hypoplasia of the patella, Vesicoureteral reflux, Choanal at... OMIM:617063
Ferguson-Bonni Neurodevelopmental Syndrome
Congenital diaphragmatic hernia OMIM:619699
Proteus-Like Syndrome
Venous insufficiency, Anteverted nares, Mandibular prognathia, Splenomegaly, Thymus hyperplasia, ... ORPHA:2969
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Decreased fetal movement, Short nose, Decreased response to growth hormone stimulation test, Poly... OMIM:213980
Perlman Syndrome
Polyhydramnios, Interrupted aortic arch, Nephroblastomatosis, Renal hamartoma, Ascites, Cryptorch... OMIM:267000
Adams-Oliver Syndrome 5
Patent foramen ovale, Right atrial enlargement, Pulmonic stenosis, Splenomegaly, Right ventricula... OMIM:616028
Intellectual Developmental Disorder, X-Linked 98
Long nose, Short nose, Urinary incontinence, Increased fetal movement, Mandibular prognathia, Ant... OMIM:300912
Craniofacial-Deafness-Hand Syndrome
Short nose, Hypoplasia of the maxilla, Malar flattening, Narrow naris, Depressed nasal bridge OMIM:122880
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Patent foramen ovale, Decreased circulating renin level, Ventricular septal defect, Nephrolithias... OMIM:615474
Oculodentodigital Dysplasia
Short nose, Narrow nasal bridge, Low hanging columella, Anteverted nares, Neurogenic bladder, Und... OMIM:164200
Optic Atrophy 11
Increased variability in muscle fiber diameter, Fiber type grouping, Facial diplegia OMIM:617302
Klippel-Feil Syndrome 2, Autosomal Recessive
Ventricular septal defect OMIM:214300
Isolated Klippel-Feil Syndrome
Renal hypoplasia/aplasia, Ventricular septal defect ORPHA:2345
Severe Generalized Junctional Epidermolysis Bullosa
Renal tubular epithelial necrosis, Hydroureter, Anemia, Duplicated collecting system, Abnormality... ORPHA:79404
Mesomelia-Synostoses Syndrome
Short umbilical cord, Polyhydramnios, Short metatarsal, Micromelia, Micrognathia, Hydronephrosis,... OMIM:600383
Phace Association
Vascular dilatation, Aortic aneurysm, Congenital hypothyroidism, Coarctation of aorta, Arterial s... OMIM:606519
Pelvis-Shoulder Dysplasia
Aplasia/hypoplasia of the femur, Aplasia/Hypoplasia of the scapulae, Mesomelic/rhizomelic limb sh... ORPHA:2839
Myasthenic Syndrome, Congenital, 21, Presynaptic
Cyanosis, Weakness of facial musculature, Knee flexion contracture OMIM:617239
Loeys-Dietz Syndrome 2
Retrognathia, Pulmonary artery aneurysm, Arterial tortuosity, Descending thoracic aorta aneurysm,... OMIM:610168
Yunis-Varon Syndrome
Absent sternal ossification, Cardiomyopathy, Hypoplastic facial bones, Absent thumb, Premature bi... OMIM:216340
Aase-Smith Syndrome I
Ventricular septal defect, Flexion contracture OMIM:147800
Atelosteogenesis, Type I
Fibular aplasia, Short finger, Polyhydramnios, Rhizomelia, 11 pairs of ribs, Short metatarsal, Sh... OMIM:108720
Matthew-Wood Syndrome
Congenital diaphragmatic hernia, Abnormal lung morphology, Pulmonary hypoplasia ORPHA:2470
Lujo Hemorrhagic Fever
Ecchymosis, Purpura, Atelectasis ORPHA:319213
Lathosterolosis
Bilobate gallbladder, Short nose, Anisopoikilocytosis, Anteverted nares, Prominent nasal tip, Foa... OMIM:607330
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome
Short nose, Micrognathia ORPHA:1129
Diamond-Blackfan Anemia 1
Retrognathia, Hypoplastic coccygeal vertebrae, Macrocytic anemia, Premature birth, Absent thumb, ... OMIM:105650
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Short nose, Enlarged kidney, Anemia, Patent foramen ovale, Hypertrophic cardiomyopathy, Nephrotic... ORPHA:505248
Chondrodysplasia Punctata 2, X-Linked Dominant
Polyhydramnios, Rhizomelia, Hemiatrophy, Hydronephrosis, Malar flattening, Edema, Concave nasal r... OMIM:302960
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Retrognathia, Short nose, Hypoplasia of teeth, Micrognathia, Wide nasal bridge OMIM:620250
Pyruvate Dehydrogenase E1-Alpha Deficiency
Low APGAR score, Abnormal medullary pyramid morphology, Ventricular septal defect, Limb undergrowth ORPHA:79243
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Edema of the dorsum of feet, Short nose, Edema of the dorsum of hands, Narrow nasal bridge ORPHA:544503
Endove Syndrome, Limb-Brain Type
Recurrent urinary tract infections, Neurogenic bladder, Hydronephrosis, Aplasia of the 3rd finger OMIM:619218
Diarrhea 10, Protein-Losing Enteropathy Type
Elevated circulating thyroid-stimulating hormone concentration, Polyuria, Polyhydramnios, Pleural... OMIM:618183
Proximal 16P11.2 Microduplication Syndrome
Congenital diaphragmatic hernia ORPHA:370079
Melnick-Needles Syndrome
Tricuspid valve prolapse, Delayed eruption of teeth, Obtuse angle of mandible, Short clavicles, U... OMIM:309350
Leukodystrophy, Hypomyelinating, 10
Anteverted nares, Short nose, Bulbous nose, Malar flattening OMIM:616420
Fetal Hydantoin Syndrome
Short nose, Depressed nasal ridge, Thickened nuchal skin fold, Short distal phalanx of finger, Cr... ORPHA:1912
Rabson-Mendenhall Syndrome
Advanced eruption of teeth, Increased serum testosterone level, Wide nose, Long penis, Fasting hy... ORPHA:769
Congenitally Corrected Transposition Of The Great Arteries
Mesocardia, Pulmonic stenosis, Discordant atrioventricular connection, Abnormal heart morphology,... ORPHA:216694
Intellectual Developmental Disorder, Autosomal Dominant 43
Low hanging columella, Anteverted nares, Pulmonic stenosis, Prominent nasal bridge, Wide nasal br... OMIM:616977
Intellectual Developmental Disorder, Autosomal Dominant 1
Retrognathia, Short nose, Mandibular prognathia, Depressed nasal ridge, Short palm, Micrognathia,... OMIM:156200
Chromosome 6Pter-P24 Deletion Syndrome
Patent foramen ovale, Short 2nd toe, Tetralogy of Fallot, Malar flattening, Patent ductus arterio... OMIM:612582
Robinow Syndrome, Autosomal Dominant 2
Short nose, Calvarial osteosclerosis, Anteverted nares, Micrognathia, Mesomelia, Short distal pha... OMIM:616331
Cholestasis, Progressive Familial Intrahepatic, 5
Nonimmune hydrops fetalis, Pleural effusion, Ascites OMIM:617049
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Hypospadias, Cryptorchidism, Coarctation of aorta, Tetralogy of Fallot, Patent ductus arteriosus,... OMIM:600460
Cardiac Valvular Dysplasia 2
Ascending tubular aorta aneurysm, Dysplastic aortic valve, Pulmonic stenosis, Bicuspid aortic val... OMIM:620067
Laubry-Pezzi Syndrome
Perimembranous ventricular septal defect, Patent ductus arteriosus, Subarterial ventricular septa... ORPHA:99094
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Hypoplasia of the maxilla, Short nose, Wide nasal bridge OMIM:218000
Trichohepatoenteric Syndrome 1
Large placenta, Polyhydramnios, Hypospadias, Galactosuria, Wide nose, Thrombocytosis, Anteverted ... OMIM:222470
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Retrognathia, Perimembranous ventricular septal defect, Cholelithiasis, B lymphocytopenia, Pancre... ORPHA:83617
Chromosome 13Q33-Q34 Deletion Syndrome
Penoscrotal transposition, Advanced eruption of teeth, Hypospadias, Delayed eruption of teeth, Lo... OMIM:619148
Short-Rib Thoracic Dysplasia 12
Short finger, Polyhydramnios, Patent foramen ovale, Short ribs, Hypoplastic nipples, Ascites, Hyp... OMIM:269860
Laryngotracheoesophageal Cleft
Recurrent respiratory infections, Cyanosis ORPHA:2004
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Aplasia/hypoplasia of the femur, Short metacarpal, Absent tibia, Aplasia/hypoplasia of the humeru... OMIM:609945
Marshall Syndrome
Short nose, Anteverted nares, Hypoplastic frontal sinuses, Hypoplasia of the maxilla, Micrognathi... ORPHA:560
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Congenital diaphragmatic hernia, Elbow flexion contracture OMIM:618022
Ellis Van Creveld Syndrome
Epispadias, Abnormality of the kidney, Situs inversus totalis, Renal hypoplasia/aplasia, Hydroure... ORPHA:289
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Short nose, Aplasia of the distal phalanx of the 5th toe, Underdeveloped nasal alae, Agenesis of ... ORPHA:364577
Congenital Tricuspid Valve Dysplasia
Hypoxemia, Anomalous pulmonary venous return, Right ventricular hypertrophy, Cyanosis ORPHA:555874
Noonan Syndrome With Multiple Lentigines
Abnormal endocardium morphology, Atrioventricular canal defect, Vascular dilatation, Hypospadias,... ORPHA:500
Benign Familial Neonatal Epilepsy
Circumoral cyanosis ORPHA:1949
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Pulmonic stenosis, Aortic valve stenosis, Testicular torsion, Cryptorchidism, Wide nasal bridge ORPHA:75496
Spondyloepiphyseal Dysplasia, Nishimura Type
Short nose, Elevated circulating parathyroid hormone level, Small hand OMIM:618618
Frontofacionasal Dysplasia
Short nose, Dimple on nasal tip, Bifid nasal tip, Choanal atresia, Depressed nasal ridge, Depress... ORPHA:1791
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Short nose, Hypospadias, Anteverted nares, Micrognathia, Patent ductus arteriosus, Cryptorchidism... ORPHA:2282
Osteoglophonic Dysplasia
Eruption failure, Short metacarpal, Rhizomelia, Hypospadias, Anteverted nares, Nasal congestion, ... OMIM:166250
Kaufman Oculocerebrofacial Syndrome
Short nose, Anteverted nares, Carious teeth, Micrognathia, Coarctation of aorta, Atrial septal de... OMIM:244450
Meckel Syndrome, Type 4
Atrial septal defect, Ventricular septal defect, Renal cyst, Bile duct proliferation OMIM:611134
Arboleda-Tham Syndrome
Short hallux, Peg-shaped maxillary lateral incisors, Recurrent urinary tract infections, Mandibul... OMIM:616268
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Short nose, Micrognathia, Polyhydramnios, Dental malocclusion ORPHA:329178
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Hydronephrosis, Cryptorchidism OMIM:618060
Laryngotracheal Angioma
Cyanosis ORPHA:137935
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Short nose, Micrognathia, Polyhydramnios, Depressed nasal bridge OMIM:619833
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Ureterocele, Abnormal nasopharynx morphology, Decreased response to growth hormone stimulation te... OMIM:129900
Ritscher-Schinzel Syndrome 2
Pulmonary artery hypoplasia, Cryptorchidism, Patent ductus arteriosus, Short distal phalanx of fi... OMIM:300963
Non-Syndromic Posterior Hypospadias
Congenital diaphragmatic hernia ORPHA:95706
19P13.12 Microdeletion Syndrome
Hypospadias, Narrow nasal bridge, Anteverted nares, Cryptorchidism, Hypothyroidism, Short palm, P... ORPHA:254346
16P11.2P12.2 Microdeletion Syndrome
Long nose, Short nose, Anteverted nares, Short palm, Microretrognathia, Bulbous nose, Absent nasa... ORPHA:261211
Combined Oxidative Phosphorylation Deficiency 25
Short nose, Anteverted nares, Reduced circulating growth hormone concentration, Intraventricular ... OMIM:616430
Arterial Tortuosity Syndrome
Abnormal carotid artery morphology, Myocarditis, Short nose, Abnormal zygomatic bone morphology, ... ORPHA:3342
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Anteverted nares, Short nose OMIM:619854
Chromosome 16P13.3 Duplication Syndrome
Short nose, Wide nose, Anteverted nares, Cryptorchidism, Micrognathia, Short toe, Tetralogy of Fa... OMIM:613458
Fanconi Anemia, Complementation Group C
Anemia, Ectopic kidney, Duplicated collecting system, Pancytopenia, Reticulocytopenia, Hypergonad... OMIM:227645
Acrofacial Dysostosis, Cincinnati Type
Retrognathia, Pulmonary artery aneurysm, Cleft anterior mitral valve leaflet, Bicuspid aortic val... OMIM:616462
1P36 Deletion Syndrome
Hypoplasia of penis, Hypogonadism, Abnormal cardiac septum morphology, Abnormality of the kidney,... ORPHA:1606
3Mc Syndrome 1
Hydronephrosis, Patent ductus arteriosus, Short 5th finger, Atrial septal defect, Ventricular sep... OMIM:257920
Whim Syndrome
Atelectasis, Bronchiectasis, Recurrent pneumonia, Respiratory tract infection, Recurrent upper re... ORPHA:51636
Granulomatosis With Polyangiitis
Abnormality of the nose, Glomerulopathy, Hematuria, Diabetes insipidus, Vasculitis, Ureteral sten... ORPHA:900
Tetrasomy 12P
Anteverted nares, Short nose, Delayed eruption of teeth ORPHA:884
Netherton Syndrome
Aminoaciduria, Hydronephrosis, Dehydration, Ectopic kidney ORPHA:634
Bannayan-Riley-Ruvalcaba Syndrome
Short nose, Thyroid carcinoma, Arteriovenous malformation, Wide nose, Aortic aneurysm, Anteverted... ORPHA:109
Trisomy 10P
Abnormality of the nose, Abnormality of the kidney, Retrognathia, Short nose, Anteverted nares, M... ORPHA:171929
5Q14.3 Microdeletion Syndrome
Anteverted nares, Short nose ORPHA:228384
Acrofacial Dysostosis 1, Nager Type
Retrognathia, Hypoplasia of the radius, Unilateral renal agenesis, Aplasia/Hypoplasia of the thum... OMIM:154400
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Increased variability in muscle fiber diameter, Myopathy OMIM:604377
Cardiomyopathy, Dilated, 1S
Single umbilical artery, Perimembranous ventricular septal defect, Ebstein anomaly of the tricusp... OMIM:613426
Campomelic Dysplasia
Fibular hypoplasia, 11 pairs of ribs, Micrognathia, Hydronephrosis, Abnormality of the sense of s... ORPHA:140
Desmoid Tumor
Hydronephrosis, Abnormality of the upper urinary tract ORPHA:873
Oculopharyngodistal Myopathy 1
Distal amyotrophy, Rimmed vacuoles, Facial palsy, Autophagic vacuoles, EMG: myopathic abnormaliti... OMIM:164310
Osteopetrosis With Renal Tubular Acidosis
Retrognathia, Anemia, Renal tubular acidosis, Pancytopenia, Secondary hyperparathyroidism, Nephro... ORPHA:2785
Desbuquois Dysplasia 1
Short nose, Short metatarsal, Concave nasal ridge, Malar flattening, Microretrognathia, Short fem... OMIM:251450
Branchio-Oculo-Facial Syndrome
Renal agenesis, Hydronephrosis, Broad nasal tip, Multicystic kidney dysplasia, Wide nasal bridge ORPHA:1297
Smith-Kingsmore Syndrome
Short nose, Short proximal phalanx of finger, Rhizomelia, Thrombocytopenia, Short distal phalanx ... OMIM:616638
Fetal Akinesia Deformation Sequence 1
Short umbilical cord, Polyhydramnios, Small placenta, Increased nuchal translucency, Depressed na... OMIM:208150
Biliary, Renal, Neurologic, And Skeletal Syndrome
Inlet ventricular septal defect, Ascites, Dark urine, Splenomegaly, Edema, Stage 5 chronic kidney... OMIM:619534
Lateral Meningocele Syndrome
Aortic aneurysm, Neurogenic bladder, Cryptorchidism, Micrognathia, Short nasal bridge, Malar flat... OMIM:130720
Gomez-Lopez-Hernandez Syndrome
Anteverted nares, Short nose, Decreased response to growth hormone stimulation test, Malar flatte... OMIM:601853
White-Kernohan Syndrome
Retrognathia, Short nose, Hydroureter, Anteverted nares, Underdeveloped nasal alae, Hypothyroidis... OMIM:619426
Glycogen Storage Disease Of Heart, Lethal Congenital
Pulmonary edema, Cyanosis, Pleural effusion, Macroglossia, Myopathy OMIM:261740
Keutel Syndrome
Cartilaginous ossification of nose, Short hallux, Pulmonary artery hypoplasia, Pulmonic stenosis,... OMIM:245150
Kabuki Syndrome 1
Autoimmune thrombocytopenia, Depressed nasal tip, Premature thelarche, Congenital hypothyroidism,... OMIM:147920
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Short nose, Anteverted nares, Renal cyst, Multicystic kidney dysplasia, Underdeveloped nasal alae ORPHA:2031
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cyanosis, Limb hypertonia OMIM:619580
Charge Syndrome
Delayed puberty, Anosmia, Abnormal cardiac septum morphology, Choanal atresia, Patent ductus arte... ORPHA:138
Zygomycosis
Pneumothorax, Atelectasis, Acute infectious pneumonia, Pleural effusion, Parenchymal consolidatio... ORPHA:73263
Ataxia-Telangiectasia
Delayed puberty, Hypoplasia of the thymus, T lymphocytopenia, Sinusitis, Female hypogonadism, Acu... OMIM:208900
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Renal artery stenosis, Renal hypoplasia, Micrognathia, Nephrocalcinosis, Hydronephrosis, Splenome... OMIM:617913
Acquired Methemoglobinemia
Hypoxemia, Cyanosis ORPHA:464453
Hsd10 Disease, Infantile Type
Cyanosis ORPHA:391428
Codas Syndrome
Atrioventricular canal defect, Polyhydramnios, Delayed eruption of teeth, Anteverted nares, Short... OMIM:600373
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia
Cephalohematoma, Anteverted nares, Ectopic anterior pituitary gland, Choanal stenosis, Patent duc... OMIM:620558
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Renal hypoplasia/aplasia, Abnormality of the sphenoid sinus, Abnormal renal morphology, Patent fo... ORPHA:363700
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Congenital diaphragmatic hernia OMIM:606164
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Polyhydramnios, Chylothorax, Micrognathia, Decreased fetal movement, Thymus hyperplasia OMIM:619036
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
B lymphocytopenia, Lymphopenia, Eosinophilia, Lymph node hypoplasia, Splenomegaly, Aplasia of the... OMIM:602450
Congenital Tracheal Stenosis
Abnormality of the kidney, Anomalous origin of left pulmonary artery from ascending aorta, Polyhy... ORPHA:141127
Tbck-Related Intellectual Disability Syndrome
Decreased response to growth hormone stimulation test, 11 pairs of ribs, Neurogenic bladder, Mand... ORPHA:488632
X-Linked Dominant Chondrodysplasia Punctata
Abnormality of prenatal development or birth, Hydronephrosis, Hypoplastic cervical vertebrae, Dep... ORPHA:35173
Liver Disease, Severe Congenital
Left atrial enlargement, Lymphocytosis, Narrow nasal ridge, Ascites, Biliary hyperplasia, Leukope... OMIM:619991
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Aortic root aneurysm, Atrial septal defect, Ventricular septal defect, Cryptorchidism OMIM:301039
Native American Myopathy
Abnormality of skeletal muscle fiber size, Camptodactyly, Congenital contracture, Muscle fiber at... ORPHA:168572
Restrictive Dermopathy
Ureteral duplication, Temporomandibular joint ankylosis, Aplasia/Hypoplastia of the eccrine sweat... ORPHA:1662
Schinzel-Giedion Syndrome
Retrognathia, Short nose, Annular pancreas, Hypospadias, Delayed eruption of teeth, Nephrolithias... ORPHA:798
Orofaciodigital Syndrome Type 1
Vascular dilatation, Renal insufficiency, Abnormal dental enamel morphology, Pancreatic cysts, Ch... ORPHA:2750
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Ragged-red muscle fibers, Scapular winging, Muscle fiber necrosis, Increased variability in muscl... OMIM:607459
Cadds
Short nose, Micrognathia, Adrenal hypoplasia ORPHA:369942
Opitz Gbbb Syndrome
Rectourethral fistula, Hypospadias, Anteverted nares, Vesicoureteral reflux, Cryptorchidism, Abno... OMIM:300000
Epidermolysis Bullosa Simplex With Pyloric Atresia
Polyhydramnios, Glomerular sclerosis, Aplasia of the bladder, Ureterocele, Hydronephrosis, Renal ... ORPHA:158684
Cleft Larynx, Posterior
Cyanosis OMIM:215800
Lipodystrophy, Congenital Generalized, Type 4
Muscular dystrophy, Skeletal muscle hypertrophy, Increased variability in muscle fiber diameter, ... OMIM:613327
Marshall-Smith Syndrome
Short mandibular rami, Retrognathia, Short nose, Anteverted nares, Choanal atresia, Dysplastic ao... OMIM:602535
Hepatoerythropoietic Porphyria
Erythrodontia, Red urine, Purple urine, Red-brown urine, Abnormality of the amniotic fluid, Nonim... ORPHA:95159
Hypoadrenocorticism, Familial
Cyanosis OMIM:240200
Frontometaphyseal Dysplasia
Short metatarsal, Short metacarpal, Ureteral obstruction, Hydronephrosis, Abnormal heart morpholo... ORPHA:1826
Combined Oxidative Phosphorylation Deficiency 19
Increased variability in muscle fiber diameter OMIM:615595
Atelis Syndrome 2
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Anemia, Suprava... OMIM:620185
Antley-Bixler Syndrome
Short nose, Abnormal renal morphology, Anteverted nares, Choanal atresia, Hypoplasia of the zygom... ORPHA:83
Myopathy With Extrapyramidal Signs
Anteverted nares, Ventricular septal defect, Leukocytosis, Splenomegaly OMIM:615673
X-Linked Intellectual Disability, Cantagrel Type
Short nose ORPHA:85277
Peho Syndrome
Short nose, Palpebral edema, Anteverted nares, Malar flattening, Peripheral edema, Pedal edema ORPHA:2836
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Retrognathia, Anemia, Abnormality of the endocrine system, Increased circulating prolactin concen... ORPHA:438213
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Duplicated collecting system, Hydronephrosis, Hepatosplenomegaly, Diabetes mellitus, Oligohydramnios ORPHA:541423
Xanthinuria, Type I
Pyelonephritis, Xanthine nephrolithiasis, Xanthinuria, Hydronephrosis OMIM:278300
Williams Syndrome
Abnormal carotid artery morphology, Hypoplasia of penis, Pulmonic stenosis, Nephrocalcinosis, Mul... ORPHA:904
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Oligohydramnios, Megacystis, Hydronephrosis, Hydroureter OMIM:619431
Joubert Syndrome 14
Renal cyst, Prominent nasal bridge, Malar flattening, Intracranial hemorrhage, Ventricular septal... OMIM:614424
Wiedemann-Rautenstrauch Syndrome
Retrognathia, Pulmonic stenosis, Congenital malformation of the left heart, Hypoplastic vertebral... ORPHA:3455
Dravet Syndrome
Cyanotic episode ORPHA:33069
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Abnormality of the kidney, Retrognathia, Aplasia/hypoplasia of the femur, Hydroureter, Long nose,... ORPHA:2636
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Long nose, Recurrent urinary tract infections, B lymphocytopenia, Ch... OMIM:251260
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Short nose, Mandibular prognathia OMIM:618087
Campomelic Dysplasia
Fibular hypoplasia, Polyhydramnios, Shortening of all phalanges of the toes, 11 pairs of ribs, Hy... OMIM:114290
Monosomy 22
Retrognathia, Hypochromic microcytic anemia, Wide nose, Hepatosplenomegaly, Aplasia of the thymus... ORPHA:96123
Mosaic Trisomy 20
Abnormality of the kidney, Retrognathia, Cryptorchidism, Abnormal mitral valve morphology, Microg... ORPHA:1724
Acrocephalopolydactylous Dysplasia
Short nose, Enlarged kidney, Ascites, Polysplenia, Micromelia, Pancreatic fibrosis, Cystic renal ... OMIM:200995
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Increased muscle glycogen content, Weakness of facial musculature, EMG: myopathic abnormalities, ... ORPHA:502423
Rhombencephalosynapsis
Abnormal renal morphology, Short nose, Anteverted nares, Microretrognathia ORPHA:59315
Congenital Erythropoietic Porphyria
Erythrodontia, Increased urinary porphobilinogen, Purple urine, Porphyrinuria, Red-brown urine, A... ORPHA:79277
Diets-Jongmans Syndrome
Polyhydramnios, Breech presentation, Hypospadias, Low hanging columella, Cryptorchidism, Broad na... OMIM:618846
Otopalatodigital Syndrome, Type I
Short 4th metacarpal, Short nose, Short hallux, Absent frontal sinuses, Short 3rd metacarpal, Mal... OMIM:311300
Spondylodysplastic Ehlers-Danlos Syndrome
Short nose, Abnormality of the temporomandibular joint, Abnormal heart valve morphology, Ascendin... ORPHA:536471
Mayer-Rokitansky-Küster-Hauser Syndrome
Abnormality of the kidney, Unilateral renal agenesis, Ectopic kidney, Ectopic ovary, Pulmonic ste... ORPHA:3109
Warsaw Breakage Syndrome
Ventricular septal defect, Tetralogy of Fallot OMIM:613398
Short Stature And Facioauriculothoracic Malformations
Ventricular septal defect OMIM:609654
Complete Atrioventricular Septal Defect
Displacement of the papillary muscles, Primum atrial septal defect, Right ventricular hypertrophy... ORPHA:1329
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Short nose, Carpal bone hypoplasia, Patent foramen ovale, Short metacarpal, Short fourth metatars... ORPHA:457395
Cornelia De Lange Syndrome 6
Short nose, Atrioventricular canal defect, Anteverted nares, Pulmonary artery atresia, Short palm... OMIM:620568
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Short nose ORPHA:289266
Toriello-Lacassie-Droste Syndrome
Epispadias, Short nose, Polyhydramnios, Hypospadias, Abnormality of the bladder, Anteverted nares... ORPHA:3339
Zttk Syndrome
Polyuria, Short nose, Breech presentation, Unilateral renal agenesis, Short foot, Hypoplasia of t... OMIM:617140
Gapo Syndrome
Short nose, Breast hypoplasia, Tubulointerstitial fibrosis, Anteverted nares, Eruption failure, H... OMIM:230740
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Short nose, Low insertion of columella, Anteverted nares, Underdeveloped nasal alae, Decreased he... OMIM:619005
Marshall-Smith Syndrome
Retrognathia, Short nose, Anteverted nares, Choanal atresia ORPHA:561
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Ragged-red muscle fibers, Increased variability in muscle fiber diameter ORPHA:70595
Chromosome 15Q25 Deletion Syndrome
Dextrocardia, Macrocytic anemia, Coronary artery fistula, Dilatation of renal calices, Cryptorchi... OMIM:614294
Waardenburg Syndrome Type 1
Short nose, Mandibular prognathia, Wide nasal bridge, Underdeveloped nasal alae ORPHA:894
Mitochondrial Complex I Deficiency, Nuclear Type 1
Ragged-red muscle fibers, Cyanosis, Skeletal muscle atrophy, Increased intramyocellular lipid dro... OMIM:252010
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Coronary artery fistula, Frontal polymicrogyria, Gray matter heterotopia, Neonatal death, Pachygy... OMIM:620024
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Short nose, Carpal bone hypoplasia, Short metacarpal, Short fourth metatarsal, Malar flattening, ... OMIM:616723
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Short nose, Advanced eruption of teeth, Broad columella, Depressed nasal bridge OMIM:617865
Pallister-Hall Syndrome
Ectopic kidney, Thyroid hypoplasia, Central adrenal insufficiency, Oligohydramnios, Short 4th met... ORPHA:672
Cornelia De Lange Syndrome 1
Ectopic kidney, Abnormal renal morphology, Hypoplasia of the radius, Hypospadias, Anteverted nare... OMIM:122470
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Short nose, Decreased response to growth hormone stimulation test, Breech presentation, Mandibula... OMIM:616007
Acquired Von Willebrand Syndrome
Normocytic anemia, Hematuria, Pulmonic stenosis, Aortic valve stenosis, Hypochromic anemia, Epist... ORPHA:99147
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Short finger, Ventricular septal hypertrophy, Aplasia of the distal phalanx of the 5th toe, Cleft... OMIM:608670
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Short nose, Tricuspid valve prolapse, Nephrotic syndrome, Hydronephrosis, Mitral valve prolapse, ... OMIM:601776
Cohen Syndrome
Delayed puberty, Cryptorchidism, Hypoplasia of the maxilla, Micrognathia, Prominent nasal bridge,... ORPHA:193
Congenital Tracheomalacia
Partial anomalous pulmonary venous return, Right aortic arch, Ventricular septal defect, Recurren... ORPHA:95430
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Short nose, Fibular hypoplasia, Decreased response to growth hormone stimulation test, Hypospadia... ORPHA:444077
Cystic Echinococcosis
Abnormal pulmonary thoracic imaging finding, Abnormality of the diaphragm, Jaundice, Abnormal sub... ORPHA:400
Den Hoed-De Boer-Voisin Syndrome
Amelogenesis imperfecta, Delayed eruption of teeth, Yellow-brown discoloration of the teeth, Recu... OMIM:619229
Marshall Syndrome
Short nose, Absent frontal sinuses, Anteverted nares, Micrognathia, Hypoplastic nasal bone, Malar... OMIM:154780
Glycogen Storage Disease Xii
Muscle fiber splitting, Increased variability in muscle fiber diameter, Jaundice, Myopathy OMIM:611881
Pulmonary Arteriovenous Malformation
Cyanosis, Pleural empyema, Hypoxemia, Pulmonary hemorrhage, Hemothorax, Telangiectasia ORPHA:2038
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Delayed puberty, Wide nasal base, Cardiomyopathy, Cyst of the ductus choledochus, Choanal atresia... ORPHA:480880
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Short distal phalanx of finger, Short nose, Epistaxis, Cerebral hemorrhage OMIM:277450
Bartsocas-Papas Syndrome 1
Short nose, Ectopic kidney, Patent foramen ovale, Short metacarpal, Bilateral cryptorchidism, Hyp... OMIM:263650
Pfeiffer Syndrome Type 1
Short nose, Short hallux, Aplasia/Hypoplasia of the thumb, Short palm, Short foot, Depressed nasa... ORPHA:93258
Pontocerebellar Hypoplasia, Type 8
Anteverted nares, Patent foramen ovale, Ventricular septal defect OMIM:614961
Difference Of Sex Development-Intellectual Disability Syndrome
Short nose, Hypogonadism, Hypoplasia of penis ORPHA:2983
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Delayed puberty, Abnormal ovarian morphology, Abnormal circulating pregnenolone concentration, Sh... ORPHA:95699
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Renal hypoplasia/aplasia, Aplasia/Hypoplasia of... ORPHA:3186
Robinow Syndrome, Autosomal Dominant 1
Retrognathia, Short nose, Rhizomelia, Delayed eruption of teeth, Anteverted nares, Short middle p... OMIM:180700
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Type 1 fibers relatively smaller than type 2 fibers, Facial palsy OMIM:619424
Lathosterolosis
Anisopoikilocytosis, Short nose, Hypoplasia of penis, Anteverted nares, Micrognathia, Abnormal pl... ORPHA:46059
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Polyhydramnios, Prominent nasal bridge, Atrial septal defect, Ventricular septal defect, Wide nas... OMIM:617360
Microphthalmia, Lenz Type
Renal hypoplasia/aplasia, Hydroureter, Hypospadias, Delayed eruption of teeth, Hydronephrosis, Cr... ORPHA:568
Lissencephaly 9 With Complex Brainstem Malformation
Ventricular septal defect, Depressed nasal bridge OMIM:618325
Coffin-Siris Syndrome 1
Retrognathia, Hydroureter, Ectopic kidney, Hypospadias, Delayed eruption of teeth, Aplasia/Hypopl... OMIM:135900
Warburg Micro Syndrome 3
Decreased testicular size, Short nose, Micrognathia, Micropenis OMIM:614222
Dubowitz Syndrome
Hypoparathyroidism, Hypospadias, Anemia, Aplasia/Hypoplasia of the thumb, Delayed eruption of tee... ORPHA:235
Hajdu-Cheney Syndrome
Delayed puberty, Hypospadias, Partial absence of toe, Wide nose, Absent frontal sinuses, Antevert... ORPHA:955
Pontocerebellar Hypoplasia, Type 2E
Short nose, Micrognathia, Wide nose OMIM:615851
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Cardiomegaly, Partial atrioventricular canal defect, Increased nuchal translucency, Coarctation o... OMIM:620066
Temtamy Preaxial Brachydactyly Syndrome
Short nose, Short hallux, Talon cusp, Hypoplasia of the maxilla, Short palm, Micrognathia, Short ... ORPHA:363417
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Bilateral choanal atresia, Supernumerary nipple, Hypospadias, Hypoplasia of the maxilla, Patent d... OMIM:106260
Weill-Marchesani Syndrome 1
Pulmonic stenosis, Hypoplasia of the maxilla, Aortic valve stenosis, Patent ductus arteriosus, Ve... OMIM:277600
Cerebrocostomandibular Syndrome
Polyhydramnios, 10 pairs of ribs, Ectopic kidney, 11 pairs of ribs, Renal cyst, Carious teeth, Mi... OMIM:117650
Granulomatous Disease, Chronic, X-Linked
Air bronchogram, Pleural effusion, Recurrent pneumonia, Atelectasis OMIM:306400
Goldberg-Shprintzen Syndrome
Vesicoureteral reflux, Hypoplasia of the maxilla, Prominent nasal bridge, Ventricular septal defe... OMIM:609460
Meier-Gorlin Syndrome 6
Delayed puberty, Short nose, Decreased response to growth hormone stimulation test, Anteverted na... OMIM:616835
Gabriele-De Vries Syndrome
Breast hypoplasia, Decreased response to growth hormone stimulation test, Patent foramen ovale, E... ORPHA:506358
Restrictive Dermopathy 2
Cyanosis OMIM:619793
Mitochondrial Phosphate Carrier Deficiency
Cyanosis OMIM:610773
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Muscular dystrophy, Increased variability in muscle fiber diameter OMIM:616538
Opsismodysplasia
Short nose, Hypoplastic vertebral bodies, Splenomegaly, Depressed nasal bridge ORPHA:2746
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Short nose, Bulbous nose, Depressed nasal bridge OMIM:618430
Distal 22Q11.2 Microduplication Syndrome
Tricuspid valve prolapse, Palpebral edema, Unilateral renal agenesis, Wide nose, Mandibular progn... ORPHA:261337
Neurodegeneration With Brain Iron Accumulation 2A
Short nose, Micrognathia OMIM:256600
Acrocallosal Syndrome
Short nose, Hypospadias, Pulmonary valve defects, Mandibular prognathia, Persistence of primary t... OMIM:200990
Noonan Syndrome 14
Polyhydramnios, Hypertrophic cardiomyopathy, Pulmonic stenosis, Prominent nasal bridge, Mitral va... OMIM:619745
Ethylmalonic Encephalopathy
Petechiae, Acrocyanosis ORPHA:51188
Osteopathia Striata With Cranial Sclerosis
Fibular aplasia, Fibular hypoplasia, Polyhydramnios, Dental malocclusion, Paranasal sinus hypopla... OMIM:300373
Thauvin-Robinet-Faivre Syndrome
Ventricular septal defect, Renal cyst, Transient neutropenia, Bifid ureter, Mitral valve prolapse... OMIM:617107
Holoprosencephaly
Hypoplasia of penis, Anosmia, Absent nares, Diabetes insipidus, Hyposmia, Anteverted nares, Choan... ORPHA:2162
Choanal Atresia
Recurrent respiratory infections, Cyanosis ORPHA:137914
Helsmoortel-Van Der Aa Syndrome
Short nose, Enlarged kidney, Advanced eruption of teeth, Decreased response to growth hormone sti... OMIM:615873
Bardet-Biedl Syndrome
Retrognathia, Hypoplasia of penis, Hypoplasia of the ovary, Abnormality of the endocrine system, ... ORPHA:110
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Anteverted nares, Cryptorchidism, Micrognathia, Thrombocytopen... ORPHA:261250
15Q24 Microdeletion Syndrome
Congenital diaphragmatic hernia ORPHA:94065
Alzahrani-Kuwahara Syndrome
Hypospadias, Patent foramen ovale, Coronary sinus enlargement, Prominent nose, Micrognathia, Pers... OMIM:619268
Williams-Beuren Syndrome
Abnormal renal morphology, Pulmonic stenosis, Early onset of sexual maturation, Nephrocalcinosis,... OMIM:194050
Limb Body Wall Complex
Abnormality of the kidney, Ectopia cordis, Single umbilical artery, Aplasia/hypoplasia involving ... ORPHA:2369
19P13.13 Microdeletion Syndrome
Short nose, Anteverted nares, Increased nuchal translucency, Malar flattening, Depressed nasal br... ORPHA:357001
Autosomal Recessive Spondylocostal Dysostosis
Congenital diaphragmatic hernia, Camptodactyly of finger, Anomalous pulmonary venous return ORPHA:2311
Tetrasomy 18P
Short nose ORPHA:3307
Dend Syndrome
Short nose, Anteverted nares, Dehydration, Elevated hemoglobin A1c ORPHA:79134
Thoracoabdominal Syndrome
Ectopia cordis, Transposition of the great arteries, Hypospadias, Renal agenesis, Patent ductus a... OMIM:313850
Encephalopathy, Ethylmalonic
Petechiae, Acrocyanosis OMIM:602473
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Anemia, Lymphadenopathy, Accessory spleen, Polysplenia, Premature birth, Splenomegaly, Microretro... OMIM:619418
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Cyanosis OMIM:250800
Hypermethioninemia Due To Adenosine Kinase Deficiency
Pulmonic stenosis, Coarctation of aorta, Secundum atrial septal defect OMIM:614300
Neu-Laxova Syndrome 1
Decreased fetal movement, Short umbilical cord, Transposition of the great arteries, Small placen... OMIM:256520
Renpenning Syndrome 1
Situs inversus totalis, Hypospadias, Low hanging columella, Phimosis, Mandibular prognathia, Decr... OMIM:309500
Cardiospondylocarpofacial Syndrome
Decreased fetal movement, Muscular ventricular septal defect, Hypoplastic nasal tip, Hypoplastic ... OMIM:157800
Cornelia De Lange Syndrome
Delayed puberty, Hypoplasia of penis, Premature birth, Hypospadias, Anteverted nares, Choanal atr... ORPHA:199
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Muscular dystrophy, Skeletal muscle hypertrophy, Congenital contracture, Increased variability in... OMIM:613150
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Short nose, Anteverted nares, Prominent veins on trunk, Carious teeth, Broad nasal tip, Malar fla... ORPHA:357074
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Abnormality of the kidney, Anemia, Hypoplasia of penis, Recurrent urinary tract infections, Antev... ORPHA:847
Hereditary Bullous Dystrophy, Macular Type
Pneumonia, Acrocyanosis ORPHA:1867
Congenital Disorder Of Glycosylation, Type Iiw
Supernumerary tooth, Bilateral choanal atresia, Anemia, Wide nose, Underdeveloped nasal alae, Bil... OMIM:619525
Myopathy, Mitochondrial, And Ataxia
Increased variability in muscle fiber diameter, Distal amyotrophy OMIM:617675
Chromosome 1Q41-Q42 Deletion Syndrome
Anteverted nares, Cryptorchidism, Broad nasal tip, Ventricular septal defect, Supernumerary nippl... OMIM:612530
Neurocardiofaciodigital Syndrome
Retrognathia, Double inlet left ventricle, Vesicoureteral reflux, Tetralogy of Fallot, Patent duc... OMIM:619869
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Polyhydramnios, Hypoplastic aortic arch, Wide nose, Aortic root aneurysm, Patent foramen ovale, H... OMIM:617506
Monosomy 22Q13.3
Palpebral edema, Vesicoureteral reflux, Lymphedema, Hydronephrosis, Recurrent pyelonephritis, Mal... ORPHA:48652
Johanson-Blizzard Syndrome
Hypoplasia of the primary teeth, Primary hypothyroidism, Ascites, Urethrovaginal fistula, Splenom... OMIM:243800
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Short nose, Anteverted nares, Thrombocytopenia, Malar flattening, Dilatation of the cerebral artery OMIM:612394
Cerebellofaciodental Syndrome
Cryptorchidism, Shortening of all distal phalanges of the fingers, Mitral valve prolapse, Dental ... OMIM:616202
Hajdu-Cheney Syndrome
Hypospadias, Wide nose, Absent frontal sinuses, Polycystic kidney dysplasia, Anteverted nares, Re... OMIM:102500
17Q24.2 Microdeletion Syndrome
Upper limb undergrowth, Vesicoureteral reflux, Pulmonic stenosis, Micrognathia, Patent ductus art... ORPHA:529962
Mietens Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Short nose, Wide nose, Wide nasal bridge ORPHA:2557
Niemann-Pick Disease Type C
Hydrops fetalis, Foam cells, Bone-marrow foam cells, Ascites, Hepatosplenomegaly, Splenomegaly, F... ORPHA:646
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Pulmonic stenosis, Enamel hypoplasia, Secundum atrial septal defect, Depressed nasal bridge OMIM:615802
Brain-Lung-Thyroid Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Atrial septal defect, Hypoparathy... ORPHA:209905
Catel-Manzke Syndrome
Dextrocardia, Low insertion of columella, Short metacarpal, Cryptorchidism, Coarctation of aorta,... OMIM:616145
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Single umbilical artery, Short ribs, Missing ribs, Hydronephrosis, Urethral atresia, Oligohydramnios OMIM:271520
Nablus Mask-Like Facial Syndrome
Retrognathia, Short nose, Short hallux, Anteverted nares, Hypoplastic nipples, Hypoplasia of the ... OMIM:608156
Atrial Septal Defect, Ostium Primum Type
Recurrent respiratory infections, Pulmonary artery dilatation, Cyanosis, Left ventricular hypertr... ORPHA:99106
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Retrognathia, Short nose, Polyhydramnios, Short metatarsal, Recurrent urinary tract infections, A... OMIM:617157
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Phocomelia, Aplasia of the thymus ORPHA:3004
Lacrimoauriculodentodigital Syndrome
Hypoplasia of the radius, Abnormal salivary gland morphology, Lacrimal gland aplasia, Abnormal de... ORPHA:2363
Myasthenia Gravis
Myositis, Acrocyanosis ORPHA:589
Stuve-Wiedemann Syndrome 1
Short nose, Wide nasal base, Low hanging columella, Anteverted nares, Carious teeth, Micrognathia... OMIM:601559
Loeys-Dietz Syndrome 1
Retrognathia, Pulmonary artery aneurysm, Dilatation of the cerebral artery, Arterial tortuosity, ... OMIM:609192
Mckusick-Kaufman Syndrome
Hydroureter, Vesicovaginal fistula, Polycystic kidney dysplasia, Hydronephrosis, Edema, Cryptorch... OMIM:236700
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Recurrent respiratory infections, Atelectasis, Pulmonary fibrosis OMIM:618278
Fontaine Progeroid Syndrome
Retrognathia, Short nose, Aortic aneurysm, Mandibular prognathia, Hypoplastic nipples, Absent nip... OMIM:612289
Spondylo-Ocular Syndrome
Ventricular septal defect, Facial hypotonia ORPHA:85194
Orofaciodigital Syndrome Type 4
Retrognathia, Short nose, Renal hypoplasia/aplasia, Wide nose, Monorchism, Choanal atresia, Depre... ORPHA:2753
Congenital Disorder Of Glycosylation, Type Iia
Retrognathia, Low hanging columella, Mandibular prognathia, Prominent nasal bridge, Convex nasal ... OMIM:212066
Ethylene Glycol Poisoning
Pulmonary edema, Cyanosis, Facial palsy ORPHA:31826
Pontocerebellar Hypoplasia, Type 10
Short nose, Low hanging columella, Cryptorchidism, Bulbous nose, Wide nasal bridge, Underdevelope... OMIM:615803
Pfeiffer Syndrome Type 2
Short nose, Short hallux, Choanal atresia, Malar flattening, Short foot, Depressed nasal bridge, ... ORPHA:93259
Rothmund-Thomson Syndrome, Type 2
Supernumerary tooth, Short nose, Annular pancreas, Delayed eruption of teeth, Mandibular prognath... OMIM:268400
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
Cutis Laxa, Autosomal Recessive, Type Iia
Carious teeth, Short nose, Anteverted nares, Malar flattening OMIM:219200
Peters-Plus Syndrome
Bilobate gallbladder, Ureteral duplication, Short metacarpal, Pulmonic stenosis, Agenesis of maxi... OMIM:261540
Geleophysic Dysplasia 1
Short nose, Anteverted nares, Tricuspid stenosis, Aortic valve stenosis, Short palm, Short metaca... OMIM:231050
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Retrognathia, Short nose, Anteverted nares, Choanal atresia, Partial anomalous pulmonary venous r... OMIM:301044
Arterial Tortuosity Syndrome
Congenital diaphragmatic hernia, Pulmonary artery stenosis, Flexion contracture, Bruising suscept... OMIM:208050
Phosphoribosylpyrophosphate Synthetase Superactivity
Short nose, Hypospadias, Renal insufficiency, Uric acid nephrolithiasis, Urolithiasis, Convex nas... OMIM:300661
Acro-Renal-Mandibular Syndrome
Congenital diaphragmatic hernia, Pulmonary hypoplasia, Abnormal lung lobation ORPHA:958
Mandibuloacral Dysplasia With Type B Lipodystrophy
Delayed puberty, Short nose, Aplasia/Hypoplasia of the clavicles, Micrognathia, Short distal phal... ORPHA:90154
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Accessory spleen, Ventricular septal defect, Wide nasal bridge, Depressed nasal tip OMIM:619306
Goodpasture Syndrome
Ground-glass opacification, Cyanosis, Reticular pattern on pulmonary HRCT, Parenchymal consolidat... OMIM:233450
Ring Chromosome 7 Syndrome
Situs inversus totalis, Short nose, Hypospadias, Anteverted nares, Mandibular prognathia, Hydroce... ORPHA:1449
Beck-Fahrner Syndrome
Cardiomegaly, Ventricular septal defect, Facial hypotonia OMIM:618798
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Short nose, Micrognathia, Prominent nasal bridge, Broad nasal tip, Wide nasal bridge OMIM:300749
Genitopalatocardiac Syndrome
Congenital diaphragmatic hernia ORPHA:2075
Isolated Right Ventricular Hypoplasia
Hypoxemia, Cyanosis ORPHA:439
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Short nose, Mandibular prognathia, Prominent nasal tip, Hydronephrosis, Broad nasal tip, Malar fl... OMIM:620330
De Barsy Syndrome
Decreased fetal movement, Hypoplastic aortic arch, Delayed eruption of teeth, Prominent veins on ... ORPHA:2962
Proboscis Lateralis
Abnormal ethmoid bone morphology, Abnormal facial skeleton morphology, Unilateral renal agenesis,... ORPHA:141099
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Cyanosis OMIM:261680
Bardet-Biedl Syndrome 12
Hypogonadism, Hydronephrosis, Hydroureter, Cystic renal dysplasia OMIM:615989
Dermatomyositis
Abnormal pulmonary interstitial morphology, Facial erythema, V-sign, Inflammatory myopathy, Myosi... ORPHA:221
Ulnar-Mammary Syndrome
Delayed puberty, Hypoplasia of penis, Breast aplasia, Hypoplastic nipples, Absent hand, Cryptorch... ORPHA:3138
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Micrognathia, Ventricular septal de... ORPHA:1071
Molybdenum Cofactor Deficiency, Complementation Group A
Short nose, Xanthinuria, Decreased urinary sulfate, Increased urinary taurine, Decreased urinary ... OMIM:252150
Oculocerebrocutaneous Syndrome
Congenital diaphragmatic hernia ORPHA:1647
Lateral Meningocele Syndrome
Craniofacial hyperostosis, Cryptorchidism, Micrognathia, Malar flattening, Ventricular septal defect ORPHA:2789
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Delayed puberty, Deviated nasal septum, Narrow nasal bridge, Patent foramen ovale, Ventricular se... OMIM:300967
Craniorachischisis
Congenital diaphragmatic hernia ORPHA:63260
Autosomal Recessive Spastic Paraplegia Type 20
Abnormal nostril morphology, Dysuria, Hydronephrosis, Prominent nose ORPHA:101000
Oculocerebrorenal Syndrome Of Lowe
Recurrent respiratory infections, Atelectasis ORPHA:534
Peroxisome Biogenesis Disorder 5A (Zellweger)
Fetal distress, Palpebral edema, Hypospadias, Polycystic kidney dysplasia, Hypoplastic nipples, R... OMIM:614866
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hydronephrosis, Oligohydramnios, Duplicated collecting system OMIM:617093
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Short nose, Rhizomelia, Anteverted nares, Mandibular prognathia, Congenital hypothyroidism, Mesom... OMIM:271510
Meckel Syndrome 14
Pneumothorax, Cyanosis, Pulmonary hypoplasia OMIM:619879
Deeah Syndrome
Retrognathia, Short nose, Polyhydramnios, Decreased response to growth hormone stimulation test, ... OMIM:619004
Relapsing Polychondritis
Purpura, Atelectasis, Erythema ORPHA:728
Ctcf-Related Neurodevelopmental Disorder
Fetal distress, Short nose, Anteverted nares, Phimosis, Coarctation of aorta, Broad nasal tip, Pa... ORPHA:363611
Hyperimmunoglobulinemia D With Periodic Fever
Urticaria, Purpura, Erythema, Acrocyanosis ORPHA:343
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Patent foramen ovale, Cryptorchidism, Coarctation of aorta, Tetralogy of Fallot, Ventricular sept... OMIM:618748
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Edema, Short nose, Micrognathia, Congenital hypothyroidism OMIM:617527
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrial septal defect, Patent foramen ovale, Pericardial effusion, Exercise-induced rhabdomyolysis... ORPHA:26793
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, B lymphocytopenia, Adren... OMIM:102700
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Annular pancreas, Hypospadias, Anteverted nares, Patent foramen ovale, Vesicoureteral reflux, Cho... OMIM:616975
Loeys-Dietz Syndrome 5
Retrognathia, Aortic root aneurysm, Patent foramen ovale, Ascending aortic dissection, Prominent ... OMIM:615582
Cousin Syndrome
Fibular aplasia, Rhizomelia, Micrognathia, Hydronephrosis, Mesomelia, Hypoplastic scapulae OMIM:260660
Spinocerebellar Ataxia-Dysmorphism Syndrome
Anteverted nares, Short nose ORPHA:1185
Aicardi-Goutieres Syndrome 1
Purpura, Petechiae, Prolonged neonatal jaundice, Acrocyanosis, Erythema OMIM:225750
Adenylosuccinase Deficiency
Elevated urinary succinylaminoimidazole carboxamide riboside level, Short nose, Anteverted nares OMIM:103050
Sepsis In Premature Infants
Petechiae, Purpura, Jaundice, Cyanosis ORPHA:90051
Plaa-Associated Neurodevelopmental Disorder
Edema of the dorsum of feet, Micrognathia, Edema of the dorsum of hands, Short nose ORPHA:521426
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Hydronephrosis ORPHA:488613
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Urinary incontinence, Pulmonic stenosis, Aortic valve stenosis, Abnormal jaw morphology, Abnormal... ORPHA:261552
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Transposition of the great arteries, Pulmonic stenosis, Myocardial fibrosis, Atrial septal defect... OMIM:253800
Orofaciodigital Syndrome V
Ventricular septal defect, Tetralogy of Fallot, Horseshoe kidney, Unilateral cryptorchidism OMIM:174300
Ayme-Gripp Syndrome
Short nose, Mandibular prognathia, Pericarditis, Malar flattening, Craniofacial asymmetry, Wide n... OMIM:601088
Esophageal Atresia
Polyhydramnios, Maternal diabetes, Choanal atresia, Renal agenesis, Coarctation of aorta, Tetralo... ORPHA:1199
Frontometaphyseal Dysplasia 2
Delayed puberty, Short metatarsal, Neurogenic bladder, Patent foramen ovale, Short metacarpal, Pu... OMIM:617137
Occipital Horn Syndrome
Short clavicles, Ureteral obstruction, Short humerus, Hydronephrosis, Bladder diverticulum, Conve... OMIM:304150
Weill-Marchesani Syndrome 2
Short finger, Short metatarsal, Short metacarpal, Pulmonic stenosis, Aortic valve stenosis, Ascen... OMIM:608328
Acquired Purpura Fulminans
Macular purpura, Acrocyanosis ORPHA:49566
Distal Deletion 9P
Short nose, Wide nasal bridge, Hypospadias ORPHA:1642
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Delayed puberty, Short finger, Polyhydramnios, Hypospadias, Mandibular prognathia, Cryptorchidism... ORPHA:459070
Mowat-Wilson Syndrome
Urinary incontinence, Pulmonic stenosis, Aortic valve stenosis, Abnormal heart morphology, Bicusp... ORPHA:2152
Aymé-Gripp Syndrome
Short nose, Breast hypoplasia, Pericardial effusion, Pericarditis, Proteinuria, Patent ductus art... ORPHA:1272
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Ragged-red muscle fibers, Increased variability in muscle fiber diameter, Rhabdomyolysis, Flexion... ORPHA:17
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Long nose, Short nose, Malar flattening, Depressed nasal bridge OMIM:618590
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Breech presentation, Short metacarpal, Short humerus, Oligohydramnios, Muscular ventricular septa... OMIM:210710
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, T lymphocytopenia, Hepatosplenomegaly, Lymphopenia, Abnormally low T cell ... OMIM:242700
T-Cell Immunodeficiency With Thymic Aplasia
Lymphadenopathy, Recurrent urinary tract infections, Thyroiditis, Decreased proportion of naive T... ORPHA:83471
Oeis Complex
Epispadias, Hydroureter, 11 pairs of ribs, Duplicated collecting system, Vesicovaginal fistula, P... OMIM:258040
Faciodigitogenital Syndrome, Autosomal Recessive
Short nose, Anteverted nares, Pollakisuria, Prominent nasal bridge, Trismus, Dental malocclusion,... OMIM:227330
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Urinary incontinence, Pulmonic stenosis, Aortic valve stenosis, Abnormal heart morphology, Bicusp... ORPHA:261537
Oculocerebral Hypopigmentation Syndrome, Cross Type
Short nose, Anemia, Anteverted nares, Ureteral stenosis, Cryptorchidism, Abnormality of the urina... ORPHA:2719
Adams-Oliver Syndrome 1
Pulmonic stenosis, Pulmonary artery stenosis, Aortic valve stenosis, Tetralogy of Fallot, Bicuspi... OMIM:100300
Warburg Micro Syndrome 2
Short nose, Prominent nasal bridge, Micropenis, Cryptorchidism OMIM:614225
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cyanosis ORPHA:488627
Trichohepatoneurodevelopmental Syndrome
Polyhydramnios, Patent ductus arteriosus, Cholelithiasis, Hypoplastic nipples, Bulbous nose, Hypo... OMIM:618268
Monosomy 9Q22.3
Short nose, Delayed eruption of teeth, Ovarian fibroma, Cardiac fibroma, Nephroblastoma ORPHA:77301
Proximal 16P11.2 Microdeletion Syndrome
Congenital diaphragmatic hernia ORPHA:261197
Otopalatodigital Syndrome, Type Ii
Hypospadias, Short metatarsal, Short hallux, Rudimentary fibula, Short ribs, Short metacarpal, Di... OMIM:304120
2Q37 Microdeletion Syndrome
Congenital diaphragmatic hernia ORPHA:1001
Autosomal Dominant Robinow Syndrome
Epispadias, Retrognathia, Supernumerary tooth, Short nose, Hypospadias, Wide nose, Hypoplasia of ... ORPHA:3107
2Q31.1 Microdeletion Syndrome
Bulbous nose, Abnormality of the hypothalamus-pituitary axis, Short palm, Micrognathia, Cryptorch... ORPHA:251014
Noonan Syndrome 1
Juvenile myelomonocytic leukemia, Hypospadias, Dental malocclusion, Amegakaryocytic thrombocytope... OMIM:163950
Ulnar-Mammary Syndrome
Delayed puberty, Aplasia of the 4th metacarpal, Short humerus, Absent radius, Aplasia of the 3rd ... OMIM:181450
Focal Dermal Hypoplasia
Midclavicular aplasia, Ureteral duplication, Short ribs, Short metacarpal, Midclavicular hypoplas... OMIM:305600
Visceral Myopathy 1
Polyhydramnios, Vesicoureteral reflux, Hydronephrosis, Megacystis, Urinary retention OMIM:155310
Necrotizing Enterocolitis
Cyanosis ORPHA:391673
Chromosome 13Q14 Deletion Syndrome
Supernumerary nipple, Patent foramen ovale, Cryptorchidism, Micrognathia, Ventricular septal defe... OMIM:613884
Eisenmenger Syndrome
Atrioventricular canal defect, Hypochromic microcytic anemia, Iron deficiency anemia, Increased m... ORPHA:97214
Sponastrime Dysplasia
Short nose, Rhizomelia, Hypospadias, Wide nose, Obtuse angle of mandible, Anteverted nares, Mandi... ORPHA:93357
Halperin-Birk Syndrome
Congenital diaphragmatic hernia, Flexion contracture OMIM:618651
3Q29 Microduplication Syndrome
Ventricular septal defect, Wide nasal bridge ORPHA:251038
Costello Syndrome
Lymphangiectasis, Polyhydramnios, Anteverted nares, Hypertrophic cardiomyopathy, Pulmonic stenosi... OMIM:218040
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Hypoplasia of the frontal bone, Hypoplasia of the maxilla, Tetralogy of Fallot, Bifid nose, Aplas... ORPHA:306542
Myhre Syndrome
Short finger, Mandibular prognathia, Cryptorchidism, Aortic valve stenosis, Pericardial effusion,... OMIM:139210
Knobloch Syndrome 1
Duplicated collecting system, Renal duplication, Hydronephrosis, Bifid ureter, Patent ductus arte... OMIM:267750
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Pulmonic stenosis, Reduced circulating growth hormone concentration, Multiple muscular ventricula... OMIM:615508
Osteogenesis Imperfecta, Type Vii
Rhizomelia, Breech presentation, Hypoplastic pulmonary veins, Micromelia, Hydronephrosis, Dentino... OMIM:610682
Witteveen-Kolk Syndrome
Male urethral meatus stenosis, Decreased response to growth hormone stimulation test, Hypospadias... OMIM:613406
Microphthalmia, Syndromic 3
Hypospadias, Anterior pituitary hypoplasia, Vertebral hypoplasia, Missing ribs, Cryptorchidism, P... OMIM:206900
Holoprosencephaly 9
Agenesis of incisor, Short nose, Decreased response to growth hormone stimulation test, Single na... OMIM:610829
Chand Syndrome
Atelectasis ORPHA:1401
Cerebrofaciothoracic Dysplasia
Short nose, Polyhydramnios, Wide nose ORPHA:1394
Monosomy 9P
Short nose, Hypospadias, Anteverted nares, Choanal atresia, Micrognathia, Ureteropelvic junction ... ORPHA:261112
C Syndrome
Short nose, Renal hypoplasia/aplasia, Polyhydramnios, Anteverted nares, Micromelia, Micrognathia,... ORPHA:1308
Sotos Syndrome
Ureteral duplication, Abnormal heart morphology, Congenital posterior urethral valve, Abnormality... ORPHA:821
Molybdenum Cofactor Deficiency, Complementation Group B
Short nose, Xanthinuria, Increased urinary taurine, Decreased urinary urate, Increased urinary hy... OMIM:252160
Jaberi-Elahi Syndrome
Short nose, Depressed nasal bridge OMIM:617988
Legius Syndrome
Ovarian neoplasm, Acute monocytic leukemia, Nephrolithiasis, Pulmonic stenosis, Mitral valve prol... ORPHA:137605
Wiedemann-Steiner Syndrome
Short nose, Decreased response to growth hormone stimulation test, Rhizomelia, Dilatation of rena... ORPHA:319182
Roberts-Sc Phocomelia Syndrome
Short humerus, Absent thumb, Narrow naris, Absent radius, Tetraphocomelia, Hypoplasia of the ulna... OMIM:268300
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Enlarged kidney, Abnormal right ventricle morphology, Chronic neutropenia, Ventricular septal def... ORPHA:500095
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Polyhydramnios, Duplicated collecting system, Hypertrophic cardiomyopathy, Cryptorchidism, Pulmon... OMIM:607721
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Delayed puberty, Abnormal left ventricle morphology, Narrow nasal bridge, Patent foramen ovale, A... ORPHA:466791
Carpenter Syndrome 2
Situs inversus totalis, Retrognathia, Transposition of the great arteries, Supernumerary nipple, ... OMIM:614976
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Retrognathia, Abnormal aortic arch morphology, Short ribs, Premature birth, Large placenta, Antev... ORPHA:96334
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Elbow flexion contracture, Camptodactyly, Arthrogryposis multiplex congenita, Hip contracture, Kn... OMIM:178110
Spondylocarpotarsal Synostosis Syndrome
Short nose, Anteverted nares, Short metacarpal, Renal cyst, Enamel hypoplasia, Hypoplasia of the ... OMIM:272460
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Ischemic stroke, Fetal distress, Short nose, Unilateral renal agenesis, Horseshoe kidney, Transie... ORPHA:500150
Nicolaides-Baraitser Syndrome
Short nose, Wide nasal base, Short metatarsal, Narrow nasal bridge, Low hanging columella, Anteve... OMIM:601358
Aneurysm-Osteoarthritis Syndrome
Retrognathia, Dilatation of the cerebral artery, Vascular dilatation, Arterial tortuosity, Patent... ORPHA:284984
Larsen Syndrome
Short metatarsal, Aortic aneurysm, Short metacarpal, Cryptorchidism, Malar flattening, Atrial sep... OMIM:150250
Cerebrocostomandibular Syndrome
Micrognathia, Ventricular septal defect, Multicystic kidney dysplasia ORPHA:1393
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Renal tubular acidosis, Caesarian section, Ventricular septal defect, Peripheral pulmonary artery... OMIM:619575
Trichothiodystrophy 1, Photosensitive
Retrognathia, Short nose, Hypogonadism OMIM:601675
Orofaciodigital Syndrome Xiv
Epispadias, Supernumerary tooth, Short ribs, Cryptorchidism, Micrognathia, Natal tooth, Microretr... OMIM:615948
Holoprosencephaly 7
Short nose, Midline defect of the nose, Hypoplastic nasal septum, Panhypopituitarism, Depressed n... OMIM:610828
White-Sutton Syndrome
Congenital diaphragmatic hernia, Facial hypotonia OMIM:616364
Neurofibromatosis-Noonan Syndrome
Pulmonic stenosis, Secundum atrial septal defect, Malar flattening, Cryptorchidism, Prominent nas... OMIM:601321
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Short nose, Atrial septal defect, Prominent nasal tip ORPHA:522077
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Abnormal placenta morphology, Short nose, Palpebral edema, Delayed puberty, Hematuria, Hypospadia... OMIM:619475
Leigh Syndrome
3-Methylglutaconic aciduria, Anemia, Neutropenia, Generalized aminoaciduria, Renal tubular acidos... ORPHA:506
Stickler Syndrome
Short nose, Advanced eruption of teeth, Abnormal dental enamel morphology, Anteverted nares, Depr... ORPHA:828
Trichothiodystrophy
Retrognathia, Anemia, Increased mean corpuscular hemoglobin concentration, Cardiomyopathy, Crypto... ORPHA:33364
Linear Skin Defects With Multiple Congenital Anomalies 1
Hypospadias, Histiocytoid cardiomyopathy, Chordee, Overriding aorta, Atrial septal defect, Ventri... OMIM:309801
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Short nose, Underdeveloped nasal alae, Hypoplastic nipples, Absent nipple, Aplasia/Hypoplastia of... OMIM:305100
Early Infantile Epileptic Encephalopathy
Short finger, Anteverted nares, Ureterocele, Precocious puberty, Renal dysplasia, Ventricular sep... ORPHA:1934
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development
Short nose, Breast hypoplasia, Malar flattening, Cryptorchidism, Depressed nasal bridge OMIM:601353
Pitt-Hopkins-Like Syndrome 2
Pulmonic stenosis OMIM:614325
Denys-Drash Syndrome
Congenital diaphragmatic hernia, Posterolateral diaphragmatic hernia OMIM:194080
Pagod Syndrome
Congenital diaphragmatic hernia, Pulmonary hypoplasia, Abnormality of the pulmonary artery, Pulmo... ORPHA:991
Loeys-Dietz Syndrome 3
Retrognathia, Arterial tortuosity, Ventricular hypertrophy, Tortuous cerebral arteries, Aortic to... OMIM:613795
Autosomal Recessive Faciodigitogenital Syndrome
Short nose, Anteverted nares, Micrognathia, Prominent nasal bridge, Short foot ORPHA:1974
Cutis Laxa, Autosomal Dominant 1
Convex nasal ridge, Ventricular septal defect, Peripheral pulmonary artery stenosis OMIM:123700
Acromesomelic Dysplasia 1
Hypoplasia of the radius, Short nose, Short metatarsal, Short metacarpal, Short toe, Acromesomelia OMIM:602875
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Anteverted nares, Right aortic arch, Prominent nasal tip, Micrognathia, Depressed nasal bridge, P... ORPHA:513456
Poems Syndrome
Plethora, Pleural effusion, Acrocyanosis ORPHA:2905
Atrial Septal Defect, Coronary Sinus Type
Pneumonia, Anomalous pulmonary venous return, Cyanosis ORPHA:99104
Peroxisome Biogenesis Disorder 4B
Ureterocele, Short nose, Adrenal insufficiency OMIM:614863
1P21.3 Microdeletion Syndrome
Short nose, Micrognathia, Broad nasal tip ORPHA:293948
Mowat-Wilson Syndrome
Abnormality of the kidney, Hypospadias, Delayed eruption of teeth, Low hanging columella, Promine... OMIM:235730
White-Sutton Syndrome
Congenital diaphragmatic hernia, Facial hypotonia ORPHA:468678
Chromosome 1P36 Deletion Syndrome, Distal
Ectopic kidney, Bicuspid aortic valve, Short 5th finger, Hypospadias, Patent foramen ovale, Crypt... OMIM:607872
Frontofacionasal Dysplasia
Short nose, Midline defect of the nose, Hypoplasia of the frontal bone, Bifid nose, Malar flatten... OMIM:229400
Pallister-Killian Syndrome
Aortic valve stenosis, Edema of the dorsum of feet, Rhizomelia, Hypospadias, Anteverted nares, Cr... OMIM:601803
Familial Dysautonomia
Recurrent respiratory infections, Abnormal pleura morphology, Acrocyanosis ORPHA:1764
Genitourinary And/Or Brain Malformation Syndrome
Short nose, Hypospadias, Urogenital sinus anomaly, Cryptorchidism, Aplasia of the nasal bone, Cho... OMIM:618820
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Short nose, Hypospadias, Cryptorchidism, Micrognathia, Broad nasal tip, Bulbous nose, Micropenis,... OMIM:309590
Multiple Mitochondrial Dysfunctions Syndrome 7
Cyanosis OMIM:620423
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Short finger, Short nose, Short ribs, Short metacarpal, Depressed nasal ridge, Micromelia, Short ... OMIM:271665
Orofaciodigital Syndrome Type 14
Epispadias, Supernumerary tooth, Bilateral cryptorchidism, Microretrognathia, Patent ductus arter... ORPHA:434179
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Ventricular septal defect, Cryptorchidism, Precocious puberty, Cerebral hemorrhage, Proteinuria, ... OMIM:616682
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Congenital diaphragmatic hernia, Elbow flexion contracture, Left ventricular hypertrophy OMIM:245600
Histiocytoid Cardiomyopathy
Pulmonary edema, Renal cyst, Stroke-like episode, Cardiomegaly, Polycystic ovaries, Ventricular s... ORPHA:137675
Cerebrooculonasal Syndrome
Short nose, Proboscis, Anteverted nares, Prominent nasal bridge, Malar flattening OMIM:605627
Combined Oxidative Phosphorylation Deficiency 15
Ventricular septal hypertrophy, Ventricular septal defect, Small hand OMIM:614947
Townes-Brocks Syndrome 1
Hypospadias, Short metatarsal, Renal insufficiency, Vesicoureteral reflux, Choanal atresia, Crypt... OMIM:107480
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Acrocyanosis, Recurrent infections due to aspiration OMIM:223900
Cardiogenic Shock
Hypoxemia, Cyanosis ORPHA:97292
Intellectual Developmental Disorder, Autosomal Dominant 42
Ureteropelvic junction obstruction, Neurogenic bladder, Hydronephrosis, Congenital hypothyroidism OMIM:616973
Proteus Syndrome
Enlarged kidney, Arteriovenous malformation, Venous malformation, Ovarian neoplasm, Long penis, D... ORPHA:744
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
11 pairs of ribs, Hydromyelia, Decreased testicular size, Hydronephrosis, Micropenis, Multicystic... OMIM:615287
Loeys-Dietz Syndrome 6
Congenital diaphragmatic hernia, Bruising susceptibility, Camptodactyly, Spontaneous pneumothorax OMIM:619656
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Hypoplasia of the ulna, Rhizomelia, Breech presentation, Delayed eruption of teeth, Ventricular h... OMIM:143095
Acrorenal-Mandibular Syndrome
Congenital diaphragmatic hernia, Elbow flexion contracture, Pulmonary hypoplasia OMIM:200980
Tetraamelia Syndrome 1
Congenital diaphragmatic hernia, Pulmonary hypoplasia, Peripheral pulmonary vessel aplasia OMIM:273395
Aicardi-Goutières Syndrome
Myositis, Prolonged neonatal jaundice, Cutis marmorata, Acrocyanosis, Multiple joint contractures ORPHA:51
Telangiectasia, Hereditary Hemorrhagic, Type 1
Tongue telangiectasia, Nail bed telangiectasia, Cyanosis, Palate telangiectasia, Lip telangiectas... OMIM:187300
Menke-Hennekam Syndrome 1
Short nose, Narrow nasal bridge, Anteverted nares, Underdeveloped nasal alae, Depressed nasal rid... OMIM:618332
Wolf-Hirschhorn Syndrome
Hypospadias, Short hallux, Accessory spleen, Cryptorchidism, Precocious puberty, Micrognathia, Sh... OMIM:194190
Telangiectasia, Hereditary Hemorrhagic, Type 2
Tongue telangiectasia, Oral cavity telangiectasia, Nail bed telangiectasia, Lip telangiectasia, G... OMIM:600376
Unilateral Polymicrogyria
Cyanosis, Pulmonary arteriovenous malformation ORPHA:268943
Craniofrontonasal Syndrome
Congenital diaphragmatic hernia OMIM:304110
Telangiectasia, Hereditary Hemorrhagic, Type 4
Tongue telangiectasia, Lip telangiectasia, Nasal mucosa telangiectasia, Conjunctival telangiectas... OMIM:610655
Atrial Septal Defect, Ostium Secundum Type
Pneumonia, Cyanosis ORPHA:99103
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Ventricular septal defect, Breech presentation OMIM:614653
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Cyanosis, Recurrent lower respiratory tract infections OMIM:618426
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
11 pairs of ribs, Short metacarpal, Micrognathia, Malar flattening, Short femoral neck, Bicuspid ... OMIM:271640
Craniotubular Dysplasia, Ikegawa Type
Short palm, Anteverted nares, Ventricular septal defect, Wide nasal bridge OMIM:619727
Coffin-Lowry Syndrome
Short nose, Wide nose, Anteverted nares, Mandibular prognathia, Thick nasal alae, Short metacarpa... OMIM:303600
Craniofacial Microsomia 1
Ectopic kidney, Right aortic arch, Vesicoureteral reflux, Maxillozygomatic hypoplasia, Vertebral ... OMIM:164210
Watson Syndrome
Pulmonic stenosis OMIM:193520
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Short nose, Hypoplasia of the ovary, Leukocytosis, Decreased testicular size, Renal hypoplasia, C... OMIM:619321
Cutis Laxa, Autosomal Recessive, Type Ib
Congenital diaphragmatic hernia, Pulmonary artery aneurysm, Emphysema, Hypoplasia of the diaphrag... OMIM:614437
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Abnormality of the kidney, Hydroureter, Abnormal dental enamel morphology, Choanal atresia, Abnor... ORPHA:2273
Aspartylglucosaminuria
Short nose, Mandibular prognathia, Carious teeth, Splenomegaly, Macroorchidism, Aspartylglucosami... ORPHA:93
Lipodystrophy, Familial Partial, Type 7
Polyuria, Short nose, Narrow nasal ridge, Pleural effusion, Type I diabetes mellitus, Pulmonary a... OMIM:606721
17Q11 Microdeletion Syndrome
Delayed puberty, Elevated circulating parathyroid hormone level, Abnormality of the sphenoid sinu... ORPHA:97685
Wolf-Hirschhorn Syndrome
Congenital diaphragmatic hernia, Recurrent respiratory infections, Aplasia/Hypoplasia of the lungs ORPHA:280
Iniencephaly
Congenital diaphragmatic hernia, Arthrogryposis multiplex congenita ORPHA:63259
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Cyanosis, Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections ORPHA:293987
Postinfectious Vasculitis
Palpable purpura, Vasculitis in the skin, Recurrent streptococcus pneumoniae infections, Cutis ma... ORPHA:48435
Mullegama-Klein-Martinez Syndrome
Congenital diaphragmatic hernia, Facial palsy OMIM:301022
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
Generalized abnormality of skin, Prominent superficial blood vessels, Cyanosis, Premature skin wr... ORPHA:740
Microphthalmia With Linear Skin Defects Syndrome
Congenital diaphragmatic hernia, Erythema ORPHA:2556
Hyperoxaluria, Primary, Type I
Cutis marmorata, Acrocyanosis OMIM:259900
Primary Hyperoxaluria
Cutis marmorata, Acrocyanosis ORPHA:416
Poland Syndrome
Congenital diaphragmatic hernia, Aplasia of the pectoralis major muscle ORPHA:2911
Hypermobile Ehlers-Danlos Syndrome
Tendon rupture, Bruising susceptibility, Acrocyanosis, Aplasia/Hypoplasia of the abdominal wall m... ORPHA:285
Classical Ehlers-Danlos Syndrome
Prematurely aged appearance, Fragile skin, Ecchymosis, Acrocyanosis, Bruising susceptibility, Poo... ORPHA:287
Beckwith-Wiedemann Syndrome
Congenital diaphragmatic hernia, Rhabdomyosarcoma, Leiomyosarcoma, Diastasis recti, 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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